Format

Send to:

Choose Destination

POU6F2 POU class 6 homeobox 2 [ Homo sapiens (human) ]

Gene ID: 11281, updated on 12-Aug-2018

Summary

Official Symbol
POU6F2provided by HGNC
Official Full Name
POU class 6 homeobox 2provided by HGNC
Primary source
HGNC:HGNC:21694
See related
Ensembl:ENSG00000106536 MIM:609062; Vega:OTTHUMG00000150803
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WT5; WTSL; RPF-1
Summary
This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See POU6F2 in Genome Data Viewer
Location:
7p14.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (38977878..39468601)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (39017609..39504390)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene acyloxyacyl hydrolase (neutrophil) Neighboring gene VPS41, HOPS complex subunit Neighboring gene POU6F2 antisense RNA 2 Neighboring gene uncharacterized LOC105375239 Neighboring gene small nucleolar RNA, H/ACA box 20B Neighboring gene uncharacterized LOC105375238 Neighboring gene POU6F2 antisense RNA 1 Neighboring gene uncharacterized LOC105375237 Neighboring gene uncharacterized LOC105375240

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Wilms tumor and radial bilateral aplasia
MedGen: C1832099 OMIM: 601583 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
ganglion mother cell fate determination TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
POU domain, class 6, transcription factor 2
Names
Wilms tumor suppressor locus
retina-derived POU-domain 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.

Genomic

  1. NG_016022.2 RefSeqGene

    Range
    5132..491914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166018.1NP_001159490.1  POU domain, class 6, transcription factor 2 isoform 2

    See identical proteins and their annotated locations for NP_001159490.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the 3' coding region, as compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC005483, DN991890, U91935
    Consensus CDS
    CCDS55103.1
    UniProtKB/Swiss-Prot
    P78424
    Related
    ENSP00000430514.2, OTTHUMP00000198531, ENST00000518318.6, OTTHUMT00000320145
    Conserved Domains (2) summary
    pfam00046
    Location:574627
    Homeobox; Homeobox domain
    cl22952
    Location:477550
    Pou; Pou domain - N-terminal to homeobox domain
  2. NM_007252.3NP_009183.3  POU domain, class 6, transcription factor 2 isoform 1

    See identical proteins and their annotated locations for NP_009183.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC005483, DN991890, U91935
    Consensus CDS
    CCDS34620.2
    UniProtKB/Swiss-Prot
    P78424
    Related
    ENSP00000384004.1, OTTHUMP00000198532, ENST00000403058.5, OTTHUMT00000320146
    Conserved Domains (2) summary
    pfam00046
    Location:610663
    Homeobox; Homeobox domain
    cl22952
    Location:477586
    Pou; Pou domain - N-terminal to homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    38977878..39468601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515113.2XP_011513415.1  POU domain, class 6, transcription factor 2 isoform X1

    Conserved Domains (2) summary
    pfam00046
    Location:639692
    Homeobox; Homeobox domain
    cl22952
    Location:506615
    Pou; Pou domain - N-terminal to homeobox domain
Support Center