POU2F3 - POU class 2 homeobox 3 Gene

Also Known as PLA1; OCT11; PLA-1; Epoc-1; OCT-11; OTF-11; Skn-1a

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25833

About POU2F3

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:120,236,638-120,319,945 (from NCBI)

This gene has 7 transcripts (splice variants), 205 orthologues and 17 paralogues. Biased expression in skin (RPKM 16.5) and lung (RPKM 0.4).

Summary

This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical Cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

POU2F3 Products (2)

mRNA Protein Name
NM_001244682.2 NP_001231611.1 POU domain, class 2, transcription factor 3 isoform 2
NM_014352.4 NP_055167.2 POU domain, class 2, transcription factor 3 isoform 1
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
12624109 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
IMP: Inferred from mutant phenotype
12624109 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
12624109 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12624109 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9242494 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in keratinocyte differentiation IDA
IDA: Inferred from direct assay
11329378 GOA
involved in negative regulation by host of viral transcription IDA
IDA: Inferred from direct assay
14645924 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12624109 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
9242494 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POU2F3 Protein Structure

Pou

Pou: Pou domain - N-terminal to homeobox domain (184 - 257)

Homeobox

Homeobox: Homeobox domain (282 - 338)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 436 a.a.
Protein Preferred Names Protein Names

POU domain, class 2, transcription factor 3

  • POU domain transcription factor OCT11a

Related Diseases

Diseases Alias
Coronary Thrombosis
  • Coronary Artery Thrombosis

Ngly1-Deficiency
  • Deficiency Of N-Glycanase 1

  • Ngly1-Cddg

  • Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome

  • Ngly1 Deficiency

  • Congenital Disorder Of Deglycosylation

  • Congenital Disorder Of Glycosylation Type Iv

  • Congenital Disorder Of Deglycosylation

  • Cddg

  • Congenital Disorder Of Glycosylation Type Iv

  • Cdg1v

Cervical Cancer
  • Cervical Cancer, Somatic

  • Neoplasm Of Uterine Cervix

  • Cervix Cancer

  • Uterine Cervical Neoplasm

  • Cervical Neoplasm

  • Cervix Uteri Cancer

  • Tumor Of The Cervix Uteri

  • CERCA

  • Uterine Cervical Cancer

  • Neoplasms Cervical

  • Uterine Cervical Neoplasms

  • Cervical Cancers

  • Cancer, Cervical, Somatic

  • Malignant Tumor Of Cervix

  • Cervix Carcinoma

Prothrombin Thrombophilia
  • Prothrombin G20210a Thrombophilia

  • Hyperprothrombinemia

Thrombocytopenia
  • Low Platelet Count

  • Low Platelets

  • Decreased Platelets

  • Platelet Dysfunction Nos

Thymic Dysplasia
Glanzmann Thrombasthenia 1
  • Glanzmann Thrombasthenia

  • Thrombasthenia Of Glanzmann And Naegeli

  • Glanzmann'S Thrombasthenia

  • Bdplt2

  • Platelet Glycoprotein Iib-Iiia Deficiency

  • Deficiency Of Platelet Fibrinogen Receptor

  • GT1

  • Gt

  • Platelet Fibrinogen Receptor Deficiency

  • Glycoprotein Complex Iib-Iiia Deficiency

  • Deficiency Of Glycoprotein Complex Iib-Iiia

  • Glycoprotein Iib/Iiia Defect

  • Glanzmann Thrombasthenia, Type A

  • Thrombasthenia

  • Bleeding Disorder, Platelet-Type, 2

  • Gp Iib-Iiia Complex Deficiency

  • Deficiency Of Gp Iib-Iiia Complex

  • Platelet-Type Bleeding Disorder 2

  • Thrombocytasthenia

  • Deficiency Of Gp 2b 3a Complex

  • Diacyclothrombopathia 2b 3a

  • Glanzmann Thrombasthenia Type A

  • Platelet Fibrinogen Receptor, Deficiency Of

  • Platelet Glycoprotein 2b 3a Deficiency

  • Glanzmann Disease

  • Glanzmann-Naegeli Disorder

  • Hereditary Hemorrhagic Thrombasthenia

  • Hereditary Thrombasthenia

  • Bleeding Disorder Platelet-Type 2

Hemorrhagic Disease
  • Hemorrhagic Disorders

  • Hemorrhagic Diathesis

  • Hemorrhagic Diseases

  • Bleeding Tendency

  • Acquired Coagulation Factor Inhibitor Disorder

  • Acquired Inhibitor Of Coagulation

  • Antithrombinaemia

  • Antithromboplastinogenaemia

  • Circulating Anticoagulant Disorder

  • Haemorrhagic Disorder Due To Antithrombinaemia

  • Haemorrhagic Disorder Due To Excess Administered Heparin

  • Antithromboplastinaemia

  • Haemorrhagic Disorder Due To Hyperheparinemia

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
Bos taurus POU2F3 VGNC VGNC:33175
Macaca mulatta POU2F3 VGNC VGNC:76078
Felis catus POU2F3 VGNC VGNC:64305
Rattus norvegicus POU2F3 RGD RGD:621691
Canis familiaris POU2F3 VGNC VGNC:44828
Mus musculus POU2F3 MGD MGI:102565
Others POU2F3 NCBI