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POU2AF1 POU class 2 homeobox associating factor 1 [ Homo sapiens (human) ]

Gene ID: 5450, updated on 15-Apr-2019

Summary

Official Symbol
POU2AF1provided by HGNC
Official Full Name
POU class 2 homeobox associating factor 1provided by HGNC
Primary source
HGNC:HGNC:9211
See related
Ensembl:ENSG00000110777 MIM:601206
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
BOB1; OBF1; OCAB; OBF-1
Expression
Biased expression in lymph node (RPKM 29.3), appendix (RPKM 16.6) and 9 other tissues See more
Orthologs

Genomic context

See POU2AF1 in Genome Data Viewer
Location:
11q23.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (111352251..111379671, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111222976..111250348, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369491 Neighboring gene microRNA 4491 Neighboring gene RNA, U2 small nuclear 60, pseudogene Neighboring gene BTG anti-proliferation factor 4 Neighboring gene uncharacterized LOC100132078

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
POU domain class 2-associating factor 1
Names
B-cell-specific coactivator OBF-1
BOB-1
OCA-B
OCT-binding factor 1
POU class 2 associating factor 1

NCBI Reference Sequences (RefSeq)

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_006235.3NP_006226.2  POU domain class 2-associating factor 1

    See identical proteins and their annotated locations for NP_006226.2

    Status: VALIDATED

    Source sequence(s)
    AP002451, X83504, Z49194
    Consensus CDS
    CCDS31675.1
    UniProtKB/Swiss-Prot
    Q16633
    Related
    ENSP00000376786.3, ENST00000393067.8
    Conserved Domains (1) summary
    pfam09310
    Location:7255
    PD-C2-AF1; POU domain, class 2, associating factor 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    111352251..111379671 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718860.4XP_006718923.1  POU domain class 2-associating factor 1 isoform X3

    Conserved Domains (1) summary
    pfam09310
    Location:54199
    PD-C2-AF1; POU domain, class 2, associating factor 1
  2. XM_005271593.2XP_005271650.1  POU domain class 2-associating factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005271650.1

    Conserved Domains (1) summary
    pfam09310
    Location:54302
    PD-C2-AF1; POU domain, class 2, associating factor 1
  3. XM_017017932.1XP_016873421.1  POU domain class 2-associating factor 1 isoform X4

  4. XM_005271594.3XP_005271651.1  POU domain class 2-associating factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005271651.1

    Conserved Domains (1) summary
    pfam09310
    Location:54302
    PD-C2-AF1; POU domain, class 2, associating factor 1
  5. XM_006718859.1XP_006718922.1  POU domain class 2-associating factor 1 isoform X2

    Conserved Domains (1) summary
    pfam09310
    Location:27275
    PD-C2-AF1; POU domain, class 2, associating factor 1
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