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  2. POU6F2 - POU class 6 homeobox 2 Gene

POU6F2 - POU class 6 homeobox 2 Gene

Homo sapiens

Also known as WT5; WTSL; RPF-1

Gene ID: 11281 | Gene type: protein coding

About POU6F2

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:38,977,909-39,468,601 (from NCBI)

This gene has 12 transcripts (splice variants), 218 orthologues, 17 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

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]

POU6F2 Products(3)

mRNA Protein Name
NM_001166018.2 NP_001159490.1 POU domain, class 6, transcription factor 2 isoform 2
NM_001370959.1 NP_001357888.1 POU domain, class 6, transcription factor 2 isoform 3
NM_007252.4 NP_009183.3 POU domain, class 6, transcription factor 2 isoform 1

POU6F2 Protein Structure

Pou

Pou: Pou domain - N-terminal to homeobox domain (478 - 525)

Pou

Pou: Pou domain - N-terminal to homeobox domain (560 - 586)

Homeobox

Homeobox: Homeobox domain (608 - 663)

  • 0
  • 200
  • 400
  • 600
  • 691 a.a.
Protein Preferred Names Protein Names

POU domain, class 6, transcription factor 2

Wilms tumor suppressor locus

Related Diseases

Diseases Alias
Wilms Tumor 5

Wilms Tumor

WT5

Wilms Tumor Susceptibility-5

Wilms Tumor And Radial Bilateral Aplasia

Nephroblastoma

Wilms' Tumor

Wilms Tumor, Susceptibility To

Wtsl

Bilateral Radial Aplasia With Wilms Tumor

Embryonal Adenosarcoma

Embryonal Nephroma

Kidney Wilms Tumor

Kidney, Adenomyosarcoma, Embryonal

Kidney, Carcinosarcoma, Embryonal

Kidney, Embryoma

Kidney, Embryonal Mixed Tumor

Nephroma

Renal Adenosarcoma

Renal Cancer, Wilms

Renal Wilms Tumor

Tumor, Wilms

Hereditary Susceptibility To Wilms Tumor 5

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Syndromic Intellectual Disability
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta POU6F2 VGNC VGNC:76093
Rattus norvegicus POU6F2 RGD RGD:1584652
Felis catus POU6F2 VGNC VGNC:102664
Mus musculus POU6F2 MGD MGI:2443631