{ "uniprot_canonical_ac": "P07320-1", "uniprot_ac": "P07320", "uniprot_id": "CRGD_HUMAN", "mass": { "chemical_mass": 20738.0, "monoisotopic_mass": 20738.0 }, "refseq": { "ac": "NP_008822", "name": "gamma-crystallin D", "summary": "Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" }, "gene_names": [ { "name": "CRYGD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07320", "id": "P07320" }, { "name": "CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4; PCC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822", "id": "NP_008822" }, { "name": "CRYG4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07320", "id": "P07320" }, { "name": "CRYGD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822", "id": "NP_008822" } ], "protein_names": [ { "name": "Gamma-crystallin D", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07320" }, { "name": "Gamma-D-crystallin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07320" }, { "name": "Gamma-crystallin 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07320" }, { "name": "gamma crystallin 4; gamma-D-crystallin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822", "id": "NP_008822" }, { "name": "gamma-crystallin D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822", "id": "NP_008822" } ], "function": [ { "annotation": "Assessing the Structures and Interactions of gammaD-Crystallin Deamidation Variants.", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" }, { "database": "PubMed", "id": "33264606", "url": "https://glygen.org/publication/PubMed/33264606" } ] }, { "annotation": "Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" }, { "database": "PubMed", "id": "37480084", "url": "https://glygen.org/publication/PubMed/37480084" } ] }, { "annotation": "Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" } ] }, { "annotation": "Crystallins are the dominant structural components of the vertebrate eye lens.", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320#function" } ] }, { "annotation": "Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" }, { "database": "PubMed", "id": "33460241", "url": "https://glygen.org/publication/PubMed/33460241" } ] }, { "annotation": "Insights to Human gammaD-Crystallin Unfolding by NMR Spectroscopy and Molecular Dynamics Simulations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" }, { "database": "PubMed", "id": "35163513", "url": "https://glygen.org/publication/PubMed/35163513" } ] }, { "annotation": "Surface Exposed Free Cysteine Suppresses Crystallization of Human gammaD-Crystallin.", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" }, { "database": "PubMed", "id": "34537240", "url": "https://glygen.org/publication/PubMed/34537240" } ] } ], "disease": [ { "disease_id": "DOID:0110234", "recommended_name": { "id": "DOID:0110234", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110234", "name": "cataract 4 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33." }, "synonyms": [ { "id": "DOID:0110234", "resource": "Disease 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(disease) caused by mutation in CRYGD", "description": "" }, { "id": "MONDO:0007281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007281", "name": "cataract 4 multiple types with or without microcornea", "description": "" }, { "id": "MONDO:0007281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007281", "name": "CCA3", "description": "" }, { "id": "MONDO:0007281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007281", "name": "congenital cataract cerulean type 3", "description": "" }, { "id": "MONDO:0007281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007281", "name": "cataract 4, multiple types", "description": "" }, { "id": "MONDO:0007281", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007281", "name": "cataract 4, multiple types, with or without microcornea", "description": "" }, { "id": "MONDO:0007281", "resource": "MONDO", "url": 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"end_pos": 24, "sequence_org": "P", "sequence_mut": "TP", "comment": "No effect on solubility.", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" }, { "database": "PubMed", "id": "15709761", "url": "https://glygen.org/publication/PubMed/15709761" } ] }, { "start_pos": 24, "end_pos": 24, "sequence_org": "P", "sequence_mut": "V", "comment": "Slightly reduces solubility.", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" }, { "database": "PubMed", "id": "15709761", "url": "https://glygen.org/publication/PubMed/15709761" } ] }, { "start_pos": 24, "end_pos": 25, "sequence_org": "PN", "sequence_mut": "TK", "comment": "No effect on solubility.", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": 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{ "database": "Bgee", "id": "ENSG00000118231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118231" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "49.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118231" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000118231", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118231" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118231", "url": 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"" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": 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}, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07320", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07320" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P07320", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07320" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07320", "url": 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"categories": [ "3D Structure" ] }, { "id": "PF00030", "url": "http://pfam.xfam.org/family/PF00030", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P07320", "url": "https://pharos.nih.gov/targets/P07320", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P07320", "url": "http://purl.obolibrary.org/obo/PR_P07320", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07320-1", "url": "https://www.uniprot.org/uniprot/P07320-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRRGDYADHQQWMGLSDSVRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNEIHSLNVLEGSWVLYELSNYRGRQYLLMPGDYRRYQDWGATNARVGSLRRVIDFS", "length": 174, "header": "sp|P07320-1|CRGD_HUMAN Isoform 1 of Gamma-crystallin D OS=Homo sapiens OX=9606 GN=CRYGD PE=1 SV=3 CANONICAL=P07320-1" }, "isoforms": [ { "isoform_ac": "P07320-1", "url": "", "sequence": { "sequence": "MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRRGDYADHQQWMGLSDSVRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNEIHSLNVLEGSWVLYELSNYRGRQYLLMPGDYRRYQDWGATNARVGSLRRVIDFS", "length": 174, "header": "sp|P07320-1|CRGD_HUMAN Isoform 1 of Gamma-crystallin D OS=Homo sapiens OX=9606 GN=CRYGD PE=1 SV=3 CANONICAL=P07320-1" }, "locus": { "chromosome": "2", "start_pos": 208124473, "end_pos": 208121676, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264376.5", "url": "https://www.ensembl.org/id/ENST00000264376.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000264376.4", "url": "https://www.ensembl.org/id/ENSP00000264376.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The gamma-crystallins and human cataracts: a puzzle made clearer.", "journal": "American journal of human genetics", "date": "1999", "authors": "Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "10521291", "url": "https://glygen.org/publication/PubMed/10521291" } ] }, { "title": "Molecular basis of a progressive juvenile-onset hereditary cataract.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Pande A, Pande J, Asherie N, Lomakin A, Ogun O, King JA, Lubsen NH, Walton D, Benedek GB", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "10688888", "url": "https://glygen.org/publication/PubMed/10688888" } ] }, { "title": "Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.", "journal": "Human molecular genetics", "date": "2000", "authors": "Kmoch S, Brynda J, Asfaw B, Bezouska K, Novak P, Rezacova P, Ondrova L, Filipec M, Sedlacek J, Elleder M", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "10915766", "url": "https://glygen.org/publication/PubMed/10915766" } ] }, { "title": "Crystal cataracts: human genetic cataract caused by protein crystallization.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Pande A, Pande J, Asherie N, Lomakin A, Ogun O, King J, Benedek GB", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "11371638", "url": "https://glygen.org/publication/PubMed/11371638" } ] }, { "title": "Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.", "journal": "Journal of medical genetics", "date": "2002", "authors": "Santhiya ST, Shyam Manohar M, Rawlley D, Vijayalakshmi P, Namperumalsamy P, Gopinath PM, Loster J, Graw J", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "12011157", "url": "https://glygen.org/publication/PubMed/12011157" } ] }, { "title": "Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2003", "authors": "Salim A, Zaidi ZH", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "12507494", "url": "https://glygen.org/publication/PubMed/12507494" } ] }, { "title": "Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.", "journal": "Journal of medical genetics", "date": "2003", "authors": "Nandrot E, Slingsby C, Basak A, Cherif-Chefchaouni M, Benazzouz B, Hajaji Y, Boutayeb S, Gribouval O, Arbogast L, Berraho A, Abitbol M, Hilal L", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "12676897", "url": "https://glygen.org/publication/PubMed/12676897" } ] }, { "title": "High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract.", "journal": "Journal of molecular biology", "date": "2003", "authors": "Basak A, Bateman O, Slingsby C, Pande A, Asherie N, Ogun O, Benedek GB, Pande J", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "12729747", "url": "https://glygen.org/publication/PubMed/12729747" } ] }, { "title": "Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.", "journal": "Biochemistry", "date": "2005", "authors": "Pande A, Annunziata O, Asherie N, Ogun O, Benedek GB, Pande J", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "15709761", "url": "https://glygen.org/publication/PubMed/15709761" } ] }, { "title": "Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.", "journal": "Molecular vision", "date": "2006", "authors": "Messina-Baas OM, Gonzalez-Huerta LM, Cuevas-Covarrubias SA", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "16943771", "url": "https://glygen.org/publication/PubMed/16943771" } ] }, { "title": "Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.", "journal": "American journal of human genetics", "date": "2007", "authors": "Plotnikova OV, Kondrashov FA, Vlasov PK, Grigorenko AP, Ginter EK, Rogaev EI", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "17564961", "url": "https://glygen.org/publication/PubMed/17564961" } ] }, { "title": "Crystallin gene mutations in Indian families with inherited pediatric cataract.", "journal": "Molecular vision", "date": "2008", "authors": "Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "18587492", "url": "https://glygen.org/publication/PubMed/18587492" } ] }, { "title": "Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.", "journal": "Molecular vision", "date": "2009", "authors": "Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "19390652", "url": "https://glygen.org/publication/PubMed/19390652" } ] }, { "title": "A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.", "journal": "Human mutation", "date": "2011", "authors": "Wang B, Yu C, Xi YB, Cai HC, Wang J, Zhou S, Zhou S, Wu Y, Yan YB, Ma X, Xie L", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "21031598", "url": "https://glygen.org/publication/PubMed/21031598" } ] }, { "title": "Mutation analysis of 12 genes in Chinese families with congenital cataracts.", "journal": "Molecular vision", "date": "2011", "authors": "Sun W, Xiao X, Li S, Guo X, Zhang Q", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "21866213", "url": "https://glygen.org/publication/PubMed/21866213" } ] }, { "title": "Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.", "journal": "Orphanet journal of rare diseases", "date": "2018", "authors": "Li J, Leng Y, Han S, Yan L, Lu C, Luo Y, Zhang X, Cao L", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "29914532", "url": "https://glygen.org/publication/PubMed/29914532" } ] }, { "title": "Mutation screening of crystallin genes in Chinese families with congenital cataracts.", "journal": "Molecular vision", "date": "2019", "authors": "Zhuang J, Cao Z, Zhu Y, Liu L, Tong Y, Chen X, Wang Y, Lu C, Ma X, Yang J", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "31523120", "url": "https://glygen.org/publication/PubMed/31523120" } ] }, { "title": "The genetic landscape of crystallins in congenital cataract.", "journal": "Orphanet journal of rare diseases", "date": "2020", "authors": "Berry V, Ionides A, Pontikos N, Georgiou M, Yu J, Ocaka LA, Moore AT, Quinlan RA, Michaelides M", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "33243271", "url": "https://glygen.org/publication/PubMed/33243271" } ] }, { "title": "Assessing the Structures and Interactions of gammaD-Crystallin Deamidation Variants.", "journal": "Structure (London, England : 1993)", "date": "2021", "authors": "Guseman AJ, Whitley MJ, Gonzalez JJ, Rathi N, Ambarian M, Gronenborn AM", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" } ], "reference": [ { "type": "PubMed", "id": "33264606", "url": "https://glygen.org/publication/PubMed/33264606" } ] }, { "title": "Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.", "journal": "Molecular genetics & genomic medicine", "date": "2020", "authors": "Lin M, Jin Y, Chen X, Sui Y, Li Y, Li H, Ni X, Zhao N, Lu Y, Jiang M", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" } ], "reference": [ { "type": "PubMed", "id": "33460241", "url": "https://glygen.org/publication/PubMed/33460241" } ] }, { "title": "Surface Exposed Free Cysteine Suppresses Crystallization of Human gammaD-Crystallin.", "journal": "Journal of molecular biology", "date": "2021", "authors": "Strofaldi A, Khan AR, McManus JJ", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" } ], "reference": [ { "type": "PubMed", "id": "34537240", "url": "https://glygen.org/publication/PubMed/34537240" } ] }, { "title": "Insights to Human gammaD-Crystallin Unfolding by NMR Spectroscopy and Molecular Dynamics Simulations.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Hsueh SS, Wang SS, Chen SH, Wang CL, Wu WJ, Lin TH", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" } ], "reference": [ { "type": "PubMed", "id": "35163513", "url": "https://glygen.org/publication/PubMed/35163513" } ] }, { "title": "Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.", "journal": "Orphanet journal of rare diseases", "date": "2023-07-21", "authors": "Wang Kai-Jie, Wang Jue-Xue, Wang Jin-Da, Li Meng, Zhang Jing-Shang, Mao Ying-Yan, Wan Xiu-Hua", "evidence": [ { "database": "RefSeq", "id": "NP_008822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008822" } ], "reference": [ { "type": "PubMed", "id": "37480084", "url": "https://glygen.org/publication/PubMed/37480084" } ] }, { "title": "Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.", "journal": "Mol. Cell. Biol.", "date": "1985", "authors": "Meakin SO, Breitman ML, Tsui LC", "evidence": [ { "database": "UniProtKB", "id": "P07320", "url": "https://www.uniprot.org/uniprot/P07320" } ], "reference": [ { "type": "PubMed", "id": "4033658", "url": "https://glygen.org/publication/PubMed/4033658" } ] }, { "title": "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.", "journal": "J. Biol. 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