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POU2AF3 POU class 2 homeobox associating factor 3 [ Homo sapiens (human) ]

Gene ID: 120376, updated on 5-Mar-2024

Summary

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Official Symbol
POU2AF3provided by HGNC
Official Full Name
POU class 2 homeobox associating factor 3provided by HGNC
Primary source
HGNC:HGNC:26978
See related
Ensembl:ENSG00000214290 MIM:615694; AllianceGenome:HGNC:26978
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
CASC13; COLCA2; OCA-T2; C11orf93; LOH11CR1G
Summary
Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in stomach (RPKM 2.9), duodenum (RPKM 2.1) and 22 other tissues See more
Orthologs
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Genomic context

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See POU2AF3 in Genome Data Viewer
Location:
11q23.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111298546..111308735)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111308735..111318916)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111169271..111179460)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723966 Neighboring gene ribosomal protein S17 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5504 Neighboring gene POU class 2 homeobox associating factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3894 Neighboring gene colorectal cancer associated 1 Neighboring gene uncharacterized LOC105369491 Neighboring gene uncharacterized LOC124902755

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis. Hitomi Y, et al. Sci Rep, 2021 Feb 25. PMID 33633225, Free PMC Article
  2. Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants. Peltekova VD, et al. Int J Cancer, 2014 May 15. PMID 24154973, Free PMC Article
  3. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Pittman AM, et al. Hum Mol Genet, 2008 Dec 1. PMID 18753146
  4. OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage. Wu XS, et al. Nature, 2022 Jul. PMID 35576971, Free PMC Article
  5. Genetic association of PLCE1, C11orf92-C11orf93, and NOC3L with colorectal cancer risk in the Han population. Duan X, et al. Tumour Biol, 2014 Mar. PMID 24146276

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.
    Title: rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.
  4. We found PLCE1, C11orf92-C11orf93, and NOC3L associated with colorectal cancer susceptibility
    Title: Genetic association of PLCE1, C11orf92-C11orf93, and NOC3L with colorectal cancer risk in the Han population.
  5. Data implicate COLCA1 and COLCA2 in the pathogenesis of colon cancer.
    Title: Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.
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

EBI GWAS Catalog

Description
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
EBI GWAS Catalog
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
EBI GWAS Catalog
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
EBI GWAS Catalog
Meta-analysis of new genome-wide association studies of colorectal cancer risk.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables POU domain binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
POU class 2 homeobox associating factor 3
Names
cancer susceptibility candidate 13
cancer susceptibility candidate protein 13
colorectal cancer associated 2
colorectal cancer associated two
colorectal cancer-associated protein 2

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)

  1. NM_001136105.3 → NP_001129577.1  POU class 2 homeobox associating factor 3 isoform 2

    See identical proteins and their annotated locations for NP_001129577.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents an alternate 5' UTR exon. Variants 2 and 3 encode the same protein which is N-terminally truncated compared to isoform 1.
    Source sequence(s)
    AK292195, AP002448, BC042557, DA307321
    Consensus CDS
    CCDS44728.1
    UniProtKB/Swiss-Prot
    A8K830
    Related
    ENSP00000381115.2, ENST00000398035.6

  2. NM_001271457.2 → NP_001258386.1  POU class 2 homeobox associating factor 3 isoform 2

    See identical proteins and their annotated locations for NP_001258386.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents an alternate 5' UTR exon. Variants 2 and 3 encode the same protein which is N-terminally truncated compared to isoform 1.
    Source sequence(s)
    AP002448, BC042557, BQ893717
    Consensus CDS
    CCDS44728.1
    UniProtKB/Swiss-Prot
    A8K830
    Related
    ENSP00000481028.2, ENST00000614153.4

  3. NM_001271458.2 → NP_001258387.1  POU class 2 homeobox associating factor 3 isoform 1

    See identical proteins and their annotated locations for NP_001258387.1

    Status: VALIDATED

    Source sequence(s)
    AP002448
    Consensus CDS
    CCDS73378.1
    UniProtKB/Swiss-Prot
    A8K830, E9PMJ8, Q2TBJ3, V5LD62, V5LDI3, V5LDV1, V5LE09, V5LEU3
    Related
    ENSP00000484135.1, ENST00000610738.6

  4. NM_001370484.1 → NP_001357413.1  POU class 2 homeobox associating factor 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.
    Source sequence(s)
    AP002448
    Consensus CDS
    CCDS44728.1
    Related
    ENSP00000434519.1, ENST00000526216.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    111298546..111308735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017196.3 → XP_016872685.1  POU class 2 homeobox associating factor 3 isoform X1

  2. XM_017017199.2 → XP_016872688.1  POU class 2 homeobox associating factor 3 isoform X3

    UniProtKB/Swiss-Prot
    A8K830

  3. XM_047426365.1 → XP_047282321.1  POU class 2 homeobox associating factor 3 isoform X3

  4. XM_017017200.2 → XP_016872689.1  POU class 2 homeobox associating factor 3 isoform X3

    UniProtKB/Swiss-Prot
    A8K830

  5. XM_047426364.1 → XP_047282320.1  POU class 2 homeobox associating factor 3 isoform X3

  6. XM_017017197.2 → XP_016872686.2  POU class 2 homeobox associating factor 3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    111308735..111318916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367657.1 → XP_054223632.1  POU class 2 homeobox associating factor 3 isoform X1

  2. XM_054367660.1 → XP_054223635.1  POU class 2 homeobox associating factor 3 isoform X3

  3. XM_054367661.1 → XP_054223636.1  POU class 2 homeobox associating factor 3 isoform X3

  4. XM_054367659.1 → XP_054223634.1  POU class 2 homeobox associating factor 3 isoform X3

  5. XM_054367662.1 → XP_054223637.1  POU class 2 homeobox associating factor 3 isoform X3

  6. XM_054367658.1 → XP_054223633.1  POU class 2 homeobox associating factor 3 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A8K830.2 GenPept UniProtKB/Swiss-Prot:A8K830

Gene LinkOut

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