Gene Gene information from NCBI Gene database.
Entrez ID 120376
Gene name POU class 2 homeobox associating factor 3
Gene symbol POU2AF3
Synonyms (NCBI Gene)
C11orf93CASC13COLCA2LOH11CR1GOCA-T2
Chromosome 11
Chromosome location 11q23.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IDA 35576971
GO:0003677 Function DNA binding IEA
GO:0003713 Function Transcription coactivator activity IDA 35576971
GO:0005515 Function Protein binding IPI 35576971
GO:0005634 Component Nucleus IDA 35576971
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615694 26978 ENSG00000214290
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A8K830
Protein name POU class 2 homeobox associating factor 3 (Cancer susceptibility candidate protein 13) (Colorectal cancer-associated protein 2) (Protein OCA-T2)
Protein function Transcriptional coactivator that specifically associates with POU2F3 (PubMed:35576971). This complex drives the development of tuft cells, a rare a rare chemosensory cells that coordinate immune and neural functions within mucosal epithelial tis
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in many cell types of epithelial, mesenchymal and hematopoietic origins (PubMed:24154973). Expressed in tufs cells (PubMed:35576971). {ECO:0000269|PubMed:24154973, ECO:0000269|PubMed:35576971}.
Sequence
MHPEPLLNSTQSAPHHFPDSFQATPFCFNQSLIPGSPSNSSILSGSLDYSYSPVQLPSYA
PENYNSPASLDTRTCGYPPEDHSYQHLSSHAQYSCFSSATTSICYCASCEAEDLDALQAA
EYFYPSTDCVDFAPSAAATSDFYKRETNCDICYS
Sequence length 154
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 18372901, 21761138, 23266556, 24836286, 26151821, 26965516, 28960316, 29917119, 30529582
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 24154973, 25569741
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASDB_DG 18372901, 19011631, 21761138, 23266556, 24836286
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 18372901, 21761138, 23266556, 24836286, 26151821, 26965516, 28960316, 29917119, 30529582
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24146276, 24256810, 25766683, 26302849
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 18372901, 21761138, 23266556, 24836286, 26151821, 26965516, 28960316, 29917119, 30529582
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 18372901, 20501757, 20648012, 20659471, 21071539, 21119214, 21314996, 22367214, 22457859, 22999960, 23434150, 24066093, 24146276, 24154973, 24253443
View all (10 more)
Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24146276 Stimulate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35812248 Inhibit
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 26078566 Associate
★☆☆☆☆
Found in Text Mining only