POU2AF2 (POU class 2 homeobox associating factor 2)

Gene

• Entrez ID: 341032
• Gene name: POU class 2 homeobox associating factor 2
• Gene symbol: POU2AF2
• Synonyms (NCBI Gene): C11orf53, OCA-T1, OCAT1
• Chromosome: 11
• Chromosome location: 11q23.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT829969	hsa-miR-1228	CLIP-seq
MIRT829970	hsa-miR-1587	CLIP-seq
MIRT829971	hsa-miR-1910	CLIP-seq
MIRT829972	hsa-miR-3140-5p	CLIP-seq
MIRT829973	hsa-miR-329	CLIP-seq
MIRT829974	hsa-miR-362-3p	CLIP-seq
MIRT829975	hsa-miR-4492	CLIP-seq
MIRT829976	hsa-miR-4498	CLIP-seq
MIRT829977	hsa-miR-4656	CLIP-seq
MIRT829978	hsa-miR-4675	CLIP-seq
MIRT829979	hsa-miR-4741	CLIP-seq
MIRT829980	hsa-miR-4790-3p	CLIP-seq
MIRT829981	hsa-miR-642b	CLIP-seq
MIRT829982	hsa-miR-762	CLIP-seq
MIRT2435836	hsa-miR-4778-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	35576971
GO:0005515	Function	Protein binding	IPI	35576971
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	35576971
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0043565	Function	Sequence-specific DNA binding	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	35576971
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0070974	Function	POU domain binding	IEA

Other IDs

• MIM: 620671
• HGNC: 30527
• e!Ensembl: ENSG00000150750

Protein

• UniProt ID: Q8IXP5
• Protein name: POU domain class 2-associating factor 2 (Oct coactivator from tuft cells 1) (Protein OCA-T1) (POU class 2 homeobox-associating factor 2)
• Protein function: Transcriptional coactivator of POU2F3 (PubMed:35576971, PubMed:36197978). This complex drives the development of tuft cells, a rare chemosensory cells that coordinate immune and neural functions within mucosal epithelial tissues (PubMed:35576971
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17721	DUF5566	3 → 236	Family of unknown function (DUF5566)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in tuft cells of colon mucosa, as well as in small intestine and thymus (PubMed:35576971). {ECO:0000269|PubMed:25048349, ECO:0000269|PubMed:35576971}.
• Sequence:

  MPGSPVTSGYYGVRRSFLSDSDFHNSKQFSNDVYTSSVGKPFPCESSAGQSHAALLEPYF
  PQEPYGDYRPPALTPNAGSLFSASPLPPLLPPPFPGDPAHFLFRDSWEQTLPDGLSQPDP
  VSADALLTLPPSTSCLSQLESGSIAQHRGSSWGSSLAGAQSYSLHALEDLHHTPGYPTPP
  PYPFTPFMTVSNDLPPKVGPLSPDEEADTGSLHDPSPWVKEDGSIAWGSYECRRAY

• Sequence length: 236

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35637633	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	19011631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24256810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241, 31089142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22879968, 24256810, 24760461, 35812248	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	36197978	Associate	★☆☆☆☆ Found in Text Mining only