POU2AF3 (POU class 2 homeobox associating factor 3)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
120376
Gene name Gene Name - the full gene name approved by the HGNC.
POU class 2 homeobox associating factor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POU2AF3
Synonyms (NCBI Gene) Gene synonyms aliases
C11orf93, CASC13, COLCA2, LOH11CR1G, OCA-T2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615694 26978 ENSG00000214290
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Celiac disease Celiac disease N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS