{ "uniprot_canonical_ac": "Q9Y2V3-1", "uniprot_ac": "Q9Y2V3", "uniprot_id": "RX_HUMAN", "mass": { "chemical_mass": 36676.0, "monoisotopic_mass": 36676.0 }, "refseq": { "ac": "NP_038463", "name": "retinal homeobox protein Rx", "summary": "This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" }, "gene_names": [ { "name": "RAX", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9Y2V3", "id": "Q9Y2V3" }, { "name": "MCOP3; MCOPS16; RAX1; RX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463", "id": "NP_038463" }, { "name": "RAX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463", "id": "NP_038463" }, { "name": "RX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9Y2V3", "id": "Q9Y2V3" } ], "protein_names": [ { "name": "Retinal homeobox protein Rx", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9Y2V3" }, { "name": "Retina and anterior neural fold homeobox protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9Y2V3" }, { "name": "retina and anterior neural fold homeobox protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463", "id": "NP_038463" }, { "name": "retinal homeobox protein Rx", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463", "id": "NP_038463" } ], "function": [ { "annotation": "Combination of WES and homozygosity mapping identified a novel homozygous RAX mutation in a consanguineous family segregating with rarely reported asymmetrical coloboma. Clinical findings and genetic results support that RAX mutation is responsible for eye malformations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" }, { "database": "PubMed", "id": "28831107", "url": "https://glygen.org/publication/PubMed/28831107" } ] }, { "annotation": "Construction and characterization of EGFP reporter plasmid harboring putative human RAX promoter for in vitro monitoring of retinal progenitor cells identity. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" }, { "database": "PubMed", "id": "34348662", "url": "https://glygen.org/publication/PubMed/34348662" } ] }, { "annotation": "Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation.", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" }, { "database": "PubMed", "id": "22558175", "url": "https://glygen.org/publication/PubMed/22558175" } ] }, { "annotation": "Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3#function" } ] }, { "annotation": "The three consanguineous Egyptian anophthalmia patients carry a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX.", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" }, { "database": "PubMed", "id": "22736936", "url": "https://glygen.org/publication/PubMed/22736936" } ] }, { "annotation": "This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" } ] } ], "disease": [ { "disease_id": "DOID:0060842", "recommended_name": { "id": "DOID:0060842", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060842", "name": "isolated microphthalmia 3", "description": "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21." }, "synonyms": [ { "id": "DOID:0060842", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060842", "name": "MCOP3", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "isolated microphthalmia 3", "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene." }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "MCOP3", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "RAX isolated microphthalmia", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "isolated microphthalmia 3", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "isolated microphthalmia caused by mutation in RAX", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "isolated microphthalmia caused by mutation in rax", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "isolated microphthalmia type 3", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "microphthalmia, isolated type 3", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "rax isolated microphthalmia", "description": "" }, { "id": "MONDO:0012604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012604", "name": "microphthalmia, isolated 3", "description": "" }, { "id": "MIM:611038", "resource": "MIM", "url": "https://www.omim.org/entry/611038", "name": "Microphthalmia, syndromic 16", "description": "Microphthalmia, syndromic 16" } ], "evidence": [ { "id": "611038", "database": "MIM", "url": "https://www.omim.org/entry/611038" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "46.69", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.59", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "32.68", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "32.02", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "29.22", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "23.89", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "24.85", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000134438", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000134438" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9Y2V3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y2V3" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "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": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "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": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"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", 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"MONDO", "url": "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", 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"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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y2V3" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q9Y2V3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9Y2V3" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"https://www.uniprot.org/uniprot/G3V2C8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2C8-1", "url": "https://www.uniprot.org/uniprot/G3V2C8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y2V3-1", "url": "https://www.uniprot.org/uniprot/Q9Y2V3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9Y2V3-2", "url": "https://www.uniprot.org/uniprot/Q9Y2V3-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGAKERDRRLGARPACPKAPEEGSEPSPPPAPAPAPEYEAPRPYCPKEPGEARPSPGLPVGPATGEAKLSEEEQPKKKHRRNRTTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSATLSPLGAGPGSGGGPAGGALPLESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTPPPPPPPFLNSPPLGPGLQPLAPPPPSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKEHIQAIGKPWQAL", "length": 346, "header": "sp|Q9Y2V3-1|RX_HUMAN Isoform 1 of Retinal homeobox protein Rx OS=Homo sapiens OX=9606 GN=RAX PE=1 SV=2 CANONICAL=Q9Y2V3-1" }, "isoforms": [ { "isoform_ac": "G3V2C8-1", "url": "", "sequence": { "sequence": "MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGAKERDRRLGARPACP", "length": 74, "header": "tr|G3V2C8-1|RX_HUMAN Computationally mapped isoform of Retinal homeobox protein Rx OS=Homo sapiens OX=9606 GN=RAX PE=1 SV=1 CANONICAL=Q9Y2V3-1" }, "locus": { "chromosome": "18", "start_pos": 59273206, "end_pos": 59272985, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555288.1", "url": "https://www.ensembl.org/id/ENST00000555288.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450583.1", "url": "https://www.ensembl.org/id/ENSP00000450583.1" } ] } }, { "isoform_ac": "Q9Y2V3-1", "url": "", "sequence": { "sequence": "MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGAKERDRRLGARPACPKAPEEGSEPSPPPAPAPAPEYEAPRPYCPKEPGEARPSPGLPVGPATGEAKLSEEEQPKKKHRRNRTTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSATLSPLGAGPGSGGGPAGGALPLESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTPPPPPPPFLNSPPLGPGLQPLAPPPPSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKEHIQAIGKPWQAL", "length": 346, "header": "sp|Q9Y2V3-1|RX_HUMAN Isoform 1 of Retinal homeobox protein Rx OS=Homo sapiens OX=9606 GN=RAX PE=1 SV=2 CANONICAL=Q9Y2V3-1" }, "locus": { "chromosome": "18", "start_pos": 59273206, "end_pos": 59269007, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000334889.4", "url": "https://www.ensembl.org/id/ENST00000334889.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000334813.3", "url": "https://www.ensembl.org/id/ENSP00000334813.3" } ] } }, { "isoform_ac": "Q9Y2V3-2", "url": "", "sequence": { "sequence": "MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGAKERDRRLGARPACPKAPEEGSEPSPPPAPAPAPEYEGVVPEPTG", "length": 104, "header": "sp|Q9Y2V3-2|RX_HUMAN Isoform 2 of Retinal homeobox protein Rx OS=Homo sapiens OX=9606 GN=RAX PE=1 SV=2 CANONICAL=Q9Y2V3-1" }, "locus": { "chromosome": "18", "start_pos": 59273206, "end_pos": 59269479, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000256852.7", "url": "https://www.ensembl.org/id/ENST00000256852.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000256852.7", "url": "https://www.ensembl.org/id/ENSP00000256852.7" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Kimura A, Singh D, Wawrousek EF, Kikuchi M, Nakamura M, Shinohara T", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "reference": [ { "type": "PubMed", "id": "10625658", "url": "https://glygen.org/publication/PubMed/10625658" } ] }, { "title": "Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.", "journal": "Hum. Mol. Genet.", "date": "2004", "authors": "Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "reference": [ { "type": "PubMed", "id": "14662654", "url": "https://glygen.org/publication/PubMed/14662654" } ] }, { "title": "Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2011", "authors": "Kato S., Toyama S., Ikegami T., Fuchida Y., Matsubara M., Ohtoko K., Oshikawa M., Tsutsui C., Usami R.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "reference": [ { "type": "PubMed", "id": "21697133", "url": "https://glygen.org/publication/PubMed/21697133" } ] }, { "title": "Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD.", "journal": "PloS one", "date": "2012", "authors": "Seko Y, Azuma N, Kaneda M, Nakatani K, Miyagawa Y, Noshiro Y, Kurokawa R, Okano H, Umezawa A", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" } ], "reference": [ { "type": "PubMed", "id": "22558175", "url": "https://glygen.org/publication/PubMed/22558175" } ] }, { "title": "RAX and anophthalmia in humans: evidence of brain anomalies.", "journal": "Molecular vision", "date": "2012", "authors": "Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" } ], "reference": [ { "type": "PubMed", "id": "22736936", "url": "https://glygen.org/publication/PubMed/22736936" } ] }, { "title": "Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.", "journal": "Clin. Genet.", "date": "2014", "authors": "Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "reference": [ { "type": "PubMed", "id": "24033328", "url": "https://glygen.org/publication/PubMed/24033328" } ] }, { "title": "Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.", "journal": "Scientific reports", "date": "2017", "authors": "Huang XF, Huang ZQ, Lin D, Dai ML, Wang QF, Chen ZJ, Jin ZB, Wang Y", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" } ], "reference": [ { "type": "PubMed", "id": "28831107", "url": "https://glygen.org/publication/PubMed/28831107" } ] }, { "title": "Construction and characterization of EGFP reporter plasmid harboring putative human RAX promoter for in vitro monitoring of retinal progenitor cells identity.", "journal": "BMC molecular and cell biology", "date": "2021", "authors": "Atefi A, Kojouri PS, Karamali F, Irani S, Nasr-Esfahani MH", "evidence": [ { "database": "RefSeq", "id": "NP_038463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038463" } ], "reference": [ { "type": "PubMed", "id": "34348662", "url": "https://glygen.org/publication/PubMed/34348662" } ] } ], "pathway": [ { "id": "hsa:30062", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:30062", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O35602-1", "protein_name": "Retinal homeobox protein Rx", "gene_name": "Rax", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKEDGILDTFPAERSSRSSKERDPRLGAQPACPKAPAGGSESSPPAAPGFVPEYEATRPCYPKEQGEARPSPGLSVGPAAGDSKLSEEEPPKKKHRRNRTTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSSALAPLGTGPGSGSGPPGSALPLEPWLGPPLPGGGATALQSLPGFGPPGQGLPASYTPPPPFLNSAPLGPGLQQLGPPPAYPCAPAFGDKFSLEEAYPRNSSIAALRLKAKEHIQAIGKPWQAL", "length": 342 }, "evidence": [ { "id": "45224174", "url": "http://www.informatics.jax.org/homology/45224174", "database": "MGI" }, { "id": "Q9Y2V3", "url": "https://omabrowser.org/oma/group/Q9Y2V3/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9JLT7-1", "protein_name": "Retinal homeobox protein Rx", "gene_name": "Rax", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MHLPGCPPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKEDGILDTFPAERSSRGSKERDPRLGARSACPKAPAGGSESSPPAAPGLVPEFEATRPCYPKEQGEARPSPGLPVGPAAGDSKLSEEEEPPKKKHRRNRTTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLLSFSRSPPSSALAPLGGPGSGSGPPGSALPLEPWLGPPLPGGGATALQSLPGFGPPGQGLPASYTPPPPFLNSAPLGPGLQQLGPPPAYPCAPAFGDKFSLEEAYPRNSSIAALRLKAKEHIQAIGKPWQAL", "length": 342 }, "evidence": [ { "id": "45224174", "url": "http://www.informatics.jax.org/homology/45224174", "database": "MGI" }, { "id": "Q9Y2V3", "url": "https://omabrowser.org/oma/group/Q9Y2V3/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "pmid": "" }, { 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"evidence": [ { "database": "UniProtKB", "id": "Q9Y2V3", "url": "https://www.uniprot.org/uniprot/Q9Y2V3" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 139, "end_pos": 141, "annotation": "n_glycosylation_sequon" }, { "start_pos": 322, "end_pos": 324, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", 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