{ "uniprot_canonical_ac": "A2AJN7-1", "ptm_annotation": [ { "annotation": "Glycosylated.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A2AJN7-1|S4A11_MOUSE Isoform 1 of Sodium bicarbonate transporter-like protein 11 OS=Mus musculus OX=10090 GN=Slc4a11 PE=2 SV=1 CANONICAL=A2AJN7-1", "length": 862, "sequence": "MSQNEHCQDSGEYFSAGTQGYFKNNMEDNLEVREDSLGDEVFDTVNSSIVSGESIRFFVNVNLEVQPSKSDLEAATGGCVLLHTSRKYLKLKNFEEEVRAHRDLDGFLAQASIILNETATSLDDVLRTMLNRFALDPNHAEPDCDLDLLMAKLFTDAGAPMESKVHLLSDTIQGVTATVRGVQYEQSWLCIICTMKTLQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDITFRQKLLKTRTEEEFKEALVHQRQLLTMMMPRAAGHSMSSLHTHRHPQPPKCKDFFPFGKGIWMDIMRRFPVYPMDFTDGIIGKSKSVGKYVTTTLFLYFACLLPTIAFGSLNDENTNGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLAIYTQVIRVICDDYNLDFNAFYAWTGLWNSFFLALYAFLNLSLLMNLFKRSTEEIIALFISITFVLDAVKGMVKIFGKYYYGHHYHTKRTSSLVSLLGIGRSPNSSLHTALNASLLASPVEMATTSSPGSTHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVRETLSDCALPIAVLSFSLIGSYGFQEIEMSKFRYNPSESLFEVAQIHSLSFKAIGSAMGLGFLLSLLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYETIVDVKETRLTALGASVLVGLSLLLLPFPLQWIPKPVLYGLFLYIALTSLDGNQLFSRVALLLKEQTSYPPTHYIRRVPQRKIHYFTGLQILQLLLLCAFGMSSLPYMKMVFPLIMIAMIPIRYNLLPRIIEAKYLDVMDAEHRP" }, "uniprot_id": "", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005452", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "inorganic anion exchanger activity", "id": "GO:0005452" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "transmembrane transporter activity", "id": "GO:0022857" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "protein dimerization activity", "id": "GO:0046983" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015293", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "symporter activity", "id": "GO:0015293" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005272", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "sodium channel activity", "id": "GO:0005272" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015252", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "proton channel activity", "id": "GO:0015252" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015301", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "anion:anion antiporter activity", "id": "GO:0015301" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046715", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "active borate transmembrane transporter activity", "id": "GO:0046715" } ], "total": 9, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "basolateral plasma membrane", "id": "GO:0016323" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "apical plasma membrane", "id": "GO:0016324" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "vesicle membrane", "id": "GO:0012506" } ], "total": 6, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "transmembrane transport", "id": "GO:0055085" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050801", "pmid": "20185830", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "ion homeostasis", "id": "GO:0050801" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042044", "pmid": "20185830", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "fluid transport", "id": "GO:0042044" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "sodium ion transport", "id": "GO:0006814" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015701", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "bicarbonate transport", "id": "GO:0015701" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030003", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "cellular cation homeostasis", "id": "GO:0030003" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046713", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "borate transport", "id": "GO:0046713" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902600", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" } ], "name": "proton transmembrane transport", "id": "GO:1902600" } ], "total": 8, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19586905", "type": "PubMed", "id": "19586905" } ], "title": "Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Lopez IA, Rosenblatt MI, Kim C, Galbraith GC, Jones SM, Kao L, Newman D, Liu W, Yeh S, Pushkin A, Abuladze N, Kurtz I", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20185830", "type": "PubMed", "id": "20185830" } ], "title": "SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Braun T., Boettger T., Maier H., Kostin S., Frohlich H., Groger N., Olbrich A.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23813972", "type": "PubMed", "id": "23813972" } ], "title": "Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases.", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Vilas GL, Loganathan SK, Liu J, Riau AK, Young JD, Mehta JS, Vithana EN, Casey JR", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23942972", "type": "PubMed", "id": "23942972" } ], "title": "Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy.", "journal": "Investigative ophthalmology & visual science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Han SB, Ang HP, Poh R, Chaurasia SS, Peh G, Liu J, Tan DT, Vithana EN, Mehta JS", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25123669", "type": "PubMed", "id": "25123669" } ], "title": "Bicarbonate transport inhibitor SITS modulates pH homeostasis triggering apoptosis of Dalton's lymphoma: implication of novel molecular mechanisms.", "journal": "Molecular and cellular biochemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Kant S, Kumar A, Singh SM", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28934248", "type": "PubMed", "id": "28934248" } ], "title": "Vps35-deficiency impairs SLC4A11 trafficking and promotes corneal dystrophy.", "journal": "PloS one", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Liu W, Tang FL, Lin S, Zhao K, Mei L, Ye J, Xiong WC", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31124301", "type": "PubMed", "id": "31124301" } ], "title": "Expression of SLC4A11 protein in mouse and rat medulla: a candidate transporter involved in outer medullary ammonia recycling.", "journal": "Physiological reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Gee MT, Kurtz I, Pannabecker TL", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31833218", "type": "PubMed", "id": "31833218" } ], "title": "Slc4a11 disruption causes duct cell loss and impairs NaCl reabsorption in female mouse submandibular glands.", "journal": "Physiological reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Yang NY, Mukaibo T, Gao X, Kurtz I, Melvin JE", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/32520610", "type": "PubMed", "id": "32520610" } ], "title": "pH dependence of the Slc4a11-mediated H(+) conductance is influenced by intracellular lysine residues and modified by disease-linked mutations.", "journal": "American journal of physiology. Cell physiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ], "authors": "Quade BN, Marshall A, Parker MD", "date": "2020" } ], "uniprot_ac": "A2AJN7", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AJN7", "type": "synonym", "resource": "RefSeq", "name": "AI503023; BTR1; NaBC1" }, { "url": "https://www.uniprot.org/uniprot/A2AJN7", "type": "synonym", "resource": "UniProtKB", "name": "BTR1" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AJN7", "type": "synonym", "resource": "RefSeq", "name": "Slc4a11" }, { "url": "https://www.uniprot.org/uniprot/A2AJN7", "type": "recommended", "resource": "UniProtKB", "name": "Slc4a11" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#A2AJN7-1", "isoform_ac": "A2AJN7-1", "locus": { "end_pos": 130684437, "strand": "+", "start_pos": 130696086, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000099362", "id": "ENSMUST00000099362", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000096963", "id": "ENSMUSP00000096963", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AJN7-1|S4A11_MOUSE Isoform 1 of Sodium bicarbonate transporter-like protein 11 OS=Mus musculus OX=10090 GN=Slc4a11 PE=2 SV=1 CANONICAL=A2AJN7-1", "length": 862, "sequence": "MSQNEHCQDSGEYFSAGTQGYFKNNMEDNLEVREDSLGDEVFDTVNSSIVSGESIRFFVNVNLEVQPSKSDLEAATGGCVLLHTSRKYLKLKNFEEEVRAHRDLDGFLAQASIILNETATSLDDVLRTMLNRFALDPNHAEPDCDLDLLMAKLFTDAGAPMESKVHLLSDTIQGVTATVRGVQYEQSWLCIICTMKTLQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDITFRQKLLKTRTEEEFKEALVHQRQLLTMMMPRAAGHSMSSLHTHRHPQPPKCKDFFPFGKGIWMDIMRRFPVYPMDFTDGIIGKSKSVGKYVTTTLFLYFACLLPTIAFGSLNDENTNGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLAIYTQVIRVICDDYNLDFNAFYAWTGLWNSFFLALYAFLNLSLLMNLFKRSTEEIIALFISITFVLDAVKGMVKIFGKYYYGHHYHTKRTSSLVSLLGIGRSPNSSLHTALNASLLASPVEMATTSSPGSTHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVRETLSDCALPIAVLSFSLIGSYGFQEIEMSKFRYNPSESLFEVAQIHSLSFKAIGSAMGLGFLLSLLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYETIVDVKETRLTALGASVLVGLSLLLLPFPLQWIPKPVLYGLFLYIALTSLDGNQLFSRVALLLKEQTSYPPTHYIRRVPQRKIHYFTGLQILQLLLLCAFGMSSLPYMKMVFPLIMIAMIPIRYNLLPRIIEAKYLDVMDAEHRP" } }, { "url": "https://www.uniprot.org/uniprot/A2AJN7#A2AJN8-1", "isoform_ac": "A2AJN8-1", "locus": { "end_pos": 130691550, "strand": "+", "start_pos": 130696086, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000127397", "id": "ENSMUST00000127397", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000117976", "id": "ENSMUSP00000117976", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A2AJN8-1|S4A11_MOUSE Computationally mapped isoform of Sodium bicarbonate transporter-like protein 11 OS=Mus musculus OX=10090 GN=Slc4a11 PE=2 SV=1 CANONICAL=A2AJN7-1", "length": 164, "sequence": "MSQNEHCQDSGEYFSAGTQGYFKNNMEDNLEVREDSLGDEVFDTVNSSIVSGESIRFFVNVNLEVQPSKSDLEAATGGCVLLHTSRKYLKLKNFEEEVRAHRDLDGFLAQASIILNETATSLDDVLRTMLNRFALDPNHAEPDCDLDLLMAKLFTDAGAPMESK" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:269356", "resource": "KEGG Pathway", "id": "mmu:269356", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Data shows that the function of SLCA11 is to facilitate the movement of water across the basolateral corneal epithelium.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Loss of SLC4A11 leads to morphological changes in the fibrocytes and deafness.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "PH dependence of the Slc4a11-mediated H(+) conductance is influenced by intracellular lysine residues and modified by disease-linked mutations.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Results demonstrate the importance of NaBC1 in the audio-vestibular system and provide support for the hypothesis that SLC4A11 should be considered a potential candidate gene in patients with isolated sensorineural vestibular hearing abnormalities.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Results provide evidence for a critical role of Vps35 in mouse corneal dystrophy; suggest that SLC4A11 appears to be a Vps35/retromer cargo, and Vps35-regulation of SLC4A11 trafficking may underlie Vps35/retromer regulation of corneal dystrophy. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "SLC4A11 is expressed relatively more abundantly in collecting ducts of the lower inner medulla where it is involved in ammonia recycling.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Slc4a11 disruption causes duct cell loss and impairs NaCl reabsorption in female mouse submandibular glands.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "Successful knockout of the Slc4a11 gene was confirmed by immunohistochemistry and RT-PCR. Slit-lamp photography and AS-OCT showed progressive corneal edema. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "annotation": "The declined tumor cell survival following inhibition of BCT could be the consequence of interplay of several inter-connected regulatory molecular events.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2AJN7#function", "annotation": "Transporter which plays an important role in sodium-mediated fluid transport in different organs. Prevents severe morphological changes of the cornea caused by increased sodium chloride concentrations in the stroma. In the inner ear, is involved in transport of potassium through the fibrocyte layer to the stria vascularis and is essential for the generation of the endocochlear potential but not for regulation of potassium concentrations in the endolymph. In the kidney, is essential for urinary concentration, mediates a sodium flux into the thin descending limb of Henle loop to allow countercurrent multiplication by osmotic equilibration. Involved in borate homeostasis. In the absence of borate, it functions as a Na(+) and OH(-)(H(+)) channel. In the presence of borate functions as an electrogenic Na(+) coupled borate cotransporter.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#function", "id": "A2AJN7", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZVP9-1", "protein_name": "Solute carrier family 4 member 11", "sequence": { "length": 862, "sequence": "MSQNEHCQDSGEYFSAATLGYFKNDTDDNPDVREDSLGDEVFDTVNSSIVSGESIRFFVNVNLEVQPSKSDIEAATGGCVLLHTSRKYLKLKNFEEEVRAHRDLDGFLAQASIILNETATSLDDVLRTMLNRFAQDPNHAEPDCDLDLLMAKLFTDAGGPMESKVHLLSDTIQGVTATVRGLQYEQSWLCIVCTMKSLQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDITFRQKLLKTRTEEEFKEALVHQRQLLTMMMPRAAGHSMSSLHTHRHPRPPKCKDFFPFGKGIWVDIMRRFPVYPLDFTDGIIGKGKTVGKYVTTTLFLYFACLLPTIAFGSLNDENTNGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLAIYTQVIRVICDDYNLDFNAFYAWTGLWNSFFLALYAFLNLSLLMNLFKRSTEEIIALFISITFVLDAVKGMVKIFWKYYYGHHYHTKRTSSLASLLGISRSPNTSLHTALNTSFLASPIEMTTASSPISTHSNQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVRETLSDCALPIAVLSFSLISSYGFQEIEMSKFRYNPSESLFEVAQIHSLSFKAISSAMGLGFLLSLLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYETIVNVKETRLTALGASVLVGLSLLLLPFPLQWIPKPVLYGLFLYIALTSLDGNQLFSRVALLLKEQTSYPPTHYIRRVPQRKIHYFTGLQILQLLLLCAFGMSSLPYMKMVFPLIMIAMIPIRYNLLPRIIEAKYLDVMDAEHRP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12931", "id": "12931", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2AJN7/", "id": "A2AJN7", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Slc4a11", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8NBS3-1", "protein_name": "Sodium bicarbonate transporter-like protein 11", "sequence": { "length": 891, "sequence": "MSQVGGRGDRCTQEVQGLVHGAGDLSASLAENSPTMSQNGYFEDSSYYKCDTDDTFEAREEILGDEAFDTANSSIVSGESIRFFVNVNLEMQATNTENEATSGGCVLLHTSRKYLKLKNFKEEIRAHRDLDGFLAQASIVLNETATSLDNVLRTMLRRFARDPDNNEPNCNLDLLMAMLFTDAGAPMRGKVHLLSDTIQGVTATVTGVRYQQSWLCIICTMKALQKRHVCISRLVRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIAFRQKLLETRTEEEFKEALVHQRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEPPKCKDFVPFGKGIREDIARRFPLYPLDFTDGIIGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQKTIAGQSIGGLLYALFSGQPLVILLTTAPLALYIQVIRVICDDYDLDFNSFYAWTGLWNSFFLALYAFFNLSLVMSLFKRSTEEIIALFISITFVLDAVKGTVKIFWKYYYGHYLDDYHTKRTSSLVSLSGLGASLNASLHTALNASFLASPTELPSATHSGQATAVLSLLIMLGTLWLGYTLYQFKKSPYLHPCVREILSDCALPIAVLAFSLISSHGFREIEMSKFRYNPSESPFAMAQIQSLSLRAVSGAMGLGFLLSMLFFIEQNLVAALVNAPENRLVKGTAYHWDLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYDTIVNVKETRLTSLGASVLVGLSLLLLPVPLQWIPKPVLYGLFLYIALTSLDGNQLVQRVALLLKEQTAYPPTHYIRRVPQRKIHYFTGLQVLQLLLLCAFGMSSLPYMKMIFPLIMIAMIPIRYILLPRIIEAKYLDVMDAEHRP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12931", "id": "12931", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "SLC4A11", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "ac": "NP_001074631.1", "name": "sodium bicarbonate transporter-like protein 11", "summary": "" }, "reaction_enzymes": [], "site_annotation": [ { "end_pos": 118, "annotation": "n_glycosylation_sequon", "start_pos": 116 }, { "end_pos": 449, "annotation": "n_glycosylation_sequon", "start_pos": 447 }, { "end_pos": 48, "annotation": "n_glycosylation_sequon", "start_pos": 46 }, { "end_pos": 513, "annotation": "n_glycosylation_sequon", "start_pos": 511 }, { "end_pos": 521, "annotation": "n_glycosylation_sequon", "start_pos": 519 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000074796", "id": "ENSMUSG00000074796", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/269356", "id": "269356", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003020", "id": "IPR003020", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011531", "id": "IPR011531", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016152", "id": "IPR016152", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:269356", "id": "mmu:269356", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:2138987", "id": "2138987", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/YDHNVSS/", "id": "YDHNVSS", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=265068at2759", "id": "265068at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453", "id": "PTHR11453", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF00955", "id": "PF00955", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2AJN7", "id": "PR_A2AJN7", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631", "id": "NP_001074631", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074631.1", "id": "NP_001074631.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AJN7", "id": "A2AJN7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2AJN7-1", "id": "A2AJN7-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2AJN8", "id": "A2AJN8", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2AJN8-1", "id": "A2AJN8-1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [ { "residue": "Asn", "site_category": "predicted", "end_pos": 511, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#ptm_processing", "id": "A2AJN7", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "start_pos": 511, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "site_category": "predicted", "end_pos": 519, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#ptm_processing", "id": "A2AJN7", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "start_pos": 519, "glytoucan_ac": "", "type": "N-linked" } ], "mutagenesis": [], "disease": [ { "disease_id": "DOID:0060649", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0060649", "resource": "Disease Ontology", "description": "", "name": "CHED", "id": "DOID:0060649" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.", "name": "congenital hereditary endothelial dystrophy of cornea", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "autosomal recessive CHED", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "congenital hereditary endothelial dystrophy of cornea", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "corneal endothelial dystrophy type 2", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "autosomal recessive congenital hereditary endothelial dystrophy", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "congenital hereditary endothelial dystrophy type II", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "congenital hereditary endothelial dystrophy of the cornea", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "corneal endothelial dystrophy 2, autosomal recessive", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "CHEDII", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "corneal endothelial dystrophy; CHED", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "infantile hereditary endothelial dystrophy", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "CHED", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "Maumenee corneal dystrophy", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "CHED2", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "corneal endothelial dystrophy 2, autosomal recessive, formerly", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "congenital hereditary endothelial dystrophy type 2", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "corneal endothelial dystrophy", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "corneal endothelial dystrophy 2, autosomal recessive; CHED2", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "corneal dystrophy, congenital hereditary endothelial", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "corneal endothelial dystrophy 2", "id": "MONDO:0009019" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009019", "resource": "MONDO", "description": "", "name": "CHED2, formerly", "id": "MONDO:0009019" }, { "url": "https://www.omim.org/entry/217700", "resource": "MIM", "description": "Corneal endothelial dystrophy", "name": "Corneal endothelial dystrophy", "id": "MIM:217700" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0060649", "resource": "Disease Ontology", "description": "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.", "name": "congenital hereditary endothelial dystrophy of cornea", "id": "DOID:0060649" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060649#disease-associations", "id": "0060649", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:0111620", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0111620", "resource": "Disease Ontology", "description": "", "name": "CDPD", "id": "DOID:0111620" }, { "url": "http://disease-ontology.org/term/DOID:0111620", "resource": "Disease Ontology", "description": "", "name": "corneal dystrophy with progressive deafness", "id": "DOID:0111620" }, { "url": "http://disease-ontology.org/term/DOID:0111620", "resource": "Disease Ontology", "description": "", "name": "corneal endothelial dystrophy and perceptive deafness", "id": "DOID:0111620" }, { "url": "http://disease-ontology.org/term/DOID:0111620", "resource": "Disease Ontology", "description": "", "name": "Harboyan syndrome", "id": "DOID:0111620" }, { "url": "http://disease-ontology.org/term/DOID:0111620", "resource": "Disease Ontology", "description": "", "name": "corneal dystrophy and perceptive deafness", "id": "DOID:0111620" }, { "url": "http://disease-ontology.org/term/DOID:0111620", "resource": "Disease Ontology", "description": "", "name": "CDPD1", "id": "DOID:0111620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.", "name": "corneal dystrophy-perceptive deafness syndrome", "id": "MONDO:0009015" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "", "name": "CDPD", "id": "MONDO:0009015" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "", "name": "corneal dystrophy and perceptive deafness; CDPD", "id": "MONDO:0009015" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "", "name": "corneal dystrophy with progressive deafness", "id": "MONDO:0009015" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "", "name": "congenital corneal dystrophy, progressive sensorineural deafness", "id": "MONDO:0009015" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "", "name": "Harboyan syndrome", "id": "MONDO:0009015" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "", "name": "corneal dystrophy and perceptive deafness", "id": "MONDO:0009015" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "", "name": "Cdpd1", "id": "MONDO:0009015" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009015", "resource": "MONDO", "description": "", "name": "corneal dystrophy and sensorineural deafness", "id": "MONDO:0009015" }, { "url": "https://www.omim.org/entry/217400", "resource": "MIM", "description": "Corneal dystrophy and perceptive deafness", "name": "Corneal dystrophy and perceptive deafness", "id": "MIM:217400" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0111620", "resource": "Disease Ontology", "description": "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLC4A11 on chromosome 20p13.", "name": "corneal dystrophy-perceptive deafness syndrome", "id": "DOID:0111620" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111620#disease-associations", "id": "0111620", "database": "Alliance of Genome Resources" } ] }, { "disease_id": "DOID:11555", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11555", "resource": "Disease Ontology", "description": "", "name": "FCED", "id": "DOID:11555" }, { "url": "http://disease-ontology.org/term/DOID:11555", "resource": "Disease Ontology", "description": "", "name": "Fuchs' endothelial corneal dystrophy", "id": "DOID:11555" }, { "url": "http://disease-ontology.org/term/DOID:11555", "resource": "Disease Ontology", "description": "", "name": "Fuchs' corneal dystrophy", "id": "DOID:11555" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013207", "resource": "MONDO", "description": "", "name": "FECD7", "id": "MONDO:0013207" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013207", "resource": "MONDO", "description": "", "name": "FECD7", "id": "MONDO:0013207" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013207", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 7", "id": "MONDO:0013207" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013207", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, late-onset", "id": "MONDO:0013207" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013207", "resource": "MONDO", "description": "", "name": "Fcd4 locus", "id": "MONDO:0013207" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013207", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 7; FECD7", "id": "MONDO:0013207" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013206", "resource": "MONDO", "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.", "name": "corneal dystrophy, Fuchs endothelial, 6", "id": "MONDO:0013206" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013206", "resource": "MONDO", "description": "", "name": "Fuchs' endothelial dystrophy caused by mutation in ZEB1", "id": "MONDO:0013206" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013206", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 6", "id": "MONDO:0013206" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013206", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 6; FECD6", "id": "MONDO:0013206" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013206", "resource": "MONDO", "description": "", "name": "FECD6", "id": "MONDO:0013206" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013206", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, type 6", "id": "MONDO:0013206" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013206", "resource": "MONDO", "description": "", "name": "ZEB1 Fuchs' endothelial dystrophy", "id": "MONDO:0013206" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013206", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, late-onset", "id": "MONDO:0013206" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014228", "resource": "MONDO", "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.", "name": "corneal dystrophy, Fuchs endothelial, 8", "id": "MONDO:0014228" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014228", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 8; FECD8", "id": "MONDO:0014228" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014228", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 8", "id": "MONDO:0014228" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014228", "resource": "MONDO", "description": "", "name": "Fuchs' endothelial dystrophy caused by mutation in AGBL1", "id": "MONDO:0014228" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014228", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, type 8", "id": "MONDO:0014228" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014228", "resource": "MONDO", "description": "", "name": "AGBL1 Fuchs' endothelial dystrophy", "id": "MONDO:0014228" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014228", "resource": "MONDO", "description": "", "name": "FECD8", "id": "MONDO:0014228" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012425", "resource": "MONDO", "description": "", "name": "FECD2", "id": "MONDO:0012425" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012425", "resource": "MONDO", "description": "", "name": "Fcd1 locus", "id": "MONDO:0012425" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012425", "resource": "MONDO", "description": "", "name": "FECD2", "id": "MONDO:0012425" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012425", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, late-onset", "id": "MONDO:0012425" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012425", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 2; FECD2", "id": "MONDO:0012425" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012425", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 2", "id": "MONDO:0012425" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007637", "resource": "MONDO", "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.", "name": "corneal dystrophy, Fuchs endothelial, 1", "id": "MONDO:0007637" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007637", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, early-onset", "id": "MONDO:0007637" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007637", "resource": "MONDO", "description": "", "name": "COL8A2 Fuchs' endothelial dystrophy", "id": "MONDO:0007637" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007637", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 1", "id": "MONDO:0007637" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007637", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 1; FECD1", "id": "MONDO:0007637" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007637", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, type 1", "id": "MONDO:0007637" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007637", "resource": "MONDO", "description": "", "name": "FECD1", "id": "MONDO:0007637" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007637", "resource": "MONDO", "description": "", "name": "Fuchs' endothelial dystrophy caused by mutation in COL8A2", "id": "MONDO:0007637" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.", "name": "corneal dystrophy, Fuchs endothelial, 3", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "", "name": "Fuchs' endothelial dystrophy caused by mutation in TCF4", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "", "name": "TCF4 Fuchs' endothelial dystrophy", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "", "name": "Fcd2 locus", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 3", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, type 3", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "", "name": "FECD3", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, late-onset", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013203", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 3; FECD3", "id": "MONDO:0013203" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013204", "resource": "MONDO", "description": "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.", "name": "corneal dystrophy, Fuchs endothelial, 4", "id": "MONDO:0013204" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013204", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 4", "id": "MONDO:0013204" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013204", "resource": "MONDO", "description": "", "name": "SLC4A11 Fuchs' endothelial dystrophy", "id": "MONDO:0013204" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013204", "resource": "MONDO", "description": "", "name": "Fuchs' endothelial dystrophy caused by mutation in SLC4A11", "id": "MONDO:0013204" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013204", "resource": "MONDO", "description": "", "name": "FECD4", "id": "MONDO:0013204" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013204", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 4; FECD4", "id": "MONDO:0013204" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013204", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, type 4", "id": "MONDO:0013204" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013204", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, late-onset", "id": "MONDO:0013204" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013205", "resource": "MONDO", "description": "", "name": "FECD5", "id": "MONDO:0013205" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013205", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 5", "id": "MONDO:0013205" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013205", "resource": "MONDO", "description": "", "name": "FECD5", "id": "MONDO:0013205" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013205", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, 5; FECD5", "id": "MONDO:0013205" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013205", "resource": "MONDO", "description": "", "name": "corneal dystrophy, Fuchs endothelial, late-onset", "id": "MONDO:0013205" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013205", "resource": "MONDO", "description": "", "name": "Fcd3 locus", "id": "MONDO:0013205" }, { "url": "https://www.omim.org/entry/613270", "resource": "MIM", "description": "Corneal dystrophy, Fuchs endothelial, 6", "name": "Corneal dystrophy, Fuchs endothelial, 6", "id": "MIM:613270" }, { "url": "https://www.omim.org/entry/615523", "resource": "MIM", "description": "Corneal dystrophy, Fuchs endothelial, 8", "name": "Corneal dystrophy, Fuchs endothelial, 8", "id": "MIM:615523" }, { "url": "https://www.omim.org/entry/136800", "resource": "MIM", "description": "Corneal dystrophy, Fuchs endothelial, 1", "name": "Corneal dystrophy, Fuchs endothelial, 1", "id": "MIM:136800" }, { "url": "https://www.omim.org/entry/613267", "resource": "MIM", "description": "Corneal dystrophy, Fuchs endothelial, 3", "name": "Corneal dystrophy, Fuchs endothelial, 3", "id": "MIM:613267" }, { "url": "https://www.omim.org/entry/613268", "resource": "MIM", "description": "Corneal dystrophy, Fuchs endothelial, 4", "name": "Corneal dystrophy, Fuchs endothelial, 4", "id": "MIM:613268" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11555", "resource": "Disease Ontology", "description": "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.", "name": "Fuchs' endothelial dystrophy", "id": "DOID:11555" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/11555#disease-associations", "id": "11555", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 96751.0, "chemical_mass": 96751.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7", "name": "Slc4a11", "locus": { "end_pos": 130684113, "strand": "-", "start_pos": 130697519, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000074796", "id": "ENSMUSG00000074796", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2AJN7#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Bicarbonate transporter-related protein 1" }, { "url": "https://www.uniprot.org/uniprot/A2AJN7#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "NaBC1" }, { "url": "https://www.uniprot.org/uniprot/A2AJN7#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Sodium bicarbonate transporter-like protein 11" }, { "url": "https://www.uniprot.org/uniprot/A2AJN7#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Sodium borate cotransporter 1" }, { "url": "https://www.uniprot.org/uniprot/A2AJN7#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Solute carrier family 4 member 11" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AJN7", "type": "synonym", "resource": "RefSeq", "name": "sodium bicarbonate transporter-like protein 11" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AJN7", "type": "synonym", "resource": "RefSeq", "name": "sodium borate cotransporter 1; bicarbonate transporter-related protein 1" } ] }