Homo sapiens Protein: POU6F2
Summary
InnateDB Protein IDBP-478354.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POU6F2
Protein Name POU class 6 homeobox 2
Synonyms RPF-1; WT5; WTSL;
Species Homo sapiens
Ensembl Protein ENSP00000430514
InnateDB Gene IDBG-13142 (POU6F2)
Protein Structure
UniProt Annotation
Function Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations Hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]: Pediatric malignancy of kidney and one of the most common solid cancers in childhood. {ECO:0000269PubMed:11284034}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed only within the CNS, where its expression is restricted to the medical habenulla, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina. {ECO:0000269PubMed:8601806}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007402 ganglion mother cell fate determination
GO:0007417 central nervous system development
GO:0007601 visual perception
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR000327 POU-specific
IPR001356 Homeobox domain
IPR009057 Homeodomain-like
IPR010982 Lambda repressor-like, DNA-binding domain
IPR013847 POU domain
PFAM PF00157
PF00046
PF13413
PRINTS PR00028
PIRSF
SMART SM00352
SM00389
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P78424
PhosphoSite PhosphoSite-P78424
TrEMBL H0YL15
UniProt Splice Variant
Entrez Gene 11281
UniGene Hs.633354
RefSeq NP_001159490
HUGO HGNC:21694
OMIM 609062
CCDS CCDS55103
HPRD 10162
IMGT
EMBL AC005483 AC011290 AC011292 AC073345 AC092174 CH236951 U91934 U91935
GenPept AAB49727 AAB49728 AAC83404 AAP21873 AAS07475 EAL23992