POU2AF2 POU class 2 homeobox associating factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: POU2AF2provided by HGNC
Official Full Name: POU class 2 homeobox associating factor 2provided by HGNC
Primary source: HGNC:HGNC:30527
See related: Ensembl:ENSG00000150750 MIM:620671; AllianceGenome:HGNC:30527
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OCAT1; OCA-T1; C11orf53
Summary: Enables sequence-specific DNA binding activity and transcription coactivator activity. Predicted to be involved in positive regulation of DNA-templated transcription. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis (RPKM 1.3), colon (RPKM 0.7) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (111245725..111286401)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (111255953..111296584)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (111116450..111157126)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

COLCA2 (POU2AF3) and likely C11orf53 (POU2AF2) function as transcriptional co-activators of POU2F3 in tuft cell-like small cell lung cancer.
Title: Selective regulation of tuft cell-like small cell lung cancer by novel transcriptional co-activators C11orf53 and COLCA2.
OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage.
Title: OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables POU domain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: POU domain class 2-associating factor 2

Names: oct coactivator from tuft cells 1; protein POU2AF2; uncharacterized protein C11orf53

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_198498.3 → NP_940900.2 POU domain class 2-associating factor 2

Status: VALIDATED

Source sequence(s)

AP002448

Consensus CDS

CCDS31674.2

UniProtKB/Swiss-Prot

A0A1C7CYV6, Q8IXP5

Related

ENSP00000280325.6, ENST00000280325.7

Conserved Domains (1) summary

pfam17721
Location:55 → 288

DUF5566; Family of unknown function (DUF5566)