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

    Gene ID: 120376, updated on 2-Nov-2024

    Summary

    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
    Enables DNA binding activity and transcription coactivator activity. Predicted to be involved in positive regulation of DNA-templated transcription. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in stomach (RPKM 2.9), duodenum (RPKM 2.1) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POU2AF3 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111298546..111308735)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111308735..111318916)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001136105.3NP_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_001271457.2NP_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_001271458.2NP_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_001370484.1NP_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_2024_08

    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_017017196.3XP_016872685.1  POU class 2 homeobox associating factor 3 isoform X1

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

      UniProtKB/Swiss-Prot
      A8K830
    3. XM_047426365.1XP_047282321.1  POU class 2 homeobox associating factor 3 isoform X3

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

      UniProtKB/Swiss-Prot
      A8K830
    5. XM_047426364.1XP_047282320.1  POU class 2 homeobox associating factor 3 isoform X3

    6. XM_017017197.2XP_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_054367657.1XP_054223632.1  POU class 2 homeobox associating factor 3 isoform X1

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

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

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

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

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