Homo sapiens Protein: POU6F2 | |||||||||||
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Summary | |||||||||||
InnateDB Protein | IDBP-294192.5 | ||||||||||
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 | ENSP00000384004 | ||||||||||
InnateDB Gene | IDBG-13142 (POU6F2) | ||||||||||
Protein Structure |
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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.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00157
PF00046 PF13413 |
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PRINTS |
PR00028
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PIRSF | |||||||||||
SMART |
SM00352
SM00389 |
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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_009183 | ||||||||||
HUGO | HGNC:21694 | ||||||||||
OMIM | 609062 | ||||||||||
CCDS | CCDS34620 | ||||||||||
HPRD | 10162 | ||||||||||
IMGT | |||||||||||
EMBL | AC005483 AC011290 AC011292 AC073345 AC092174 CH236951 U91934 U91935 | ||||||||||
GenPept | AAB49727 AAB49728 AAC83404 AAP21873 AAS07475 EAL23992 | ||||||||||