POU3F2 POU class 3 homeobox 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: POU3F2provided by HGNC
Official Full Name: POU class 3 homeobox 2provided by HGNC
Primary source: HGNC:HGNC:9215
See related: Ensembl:ENSG00000184486 MIM:600494
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: BRN2; OCT7; OTF7; OTF-7; POUF3; brn-2; oct-7; N-Oct3
Summary: This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]
Orthologs: mouse all
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Genomic context

Location:: 6q16.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	6	NC_000006.12 (98834574..98839458)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (99282450..99287334)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BRN2 is a non-canonical melanoma tumor-suppressor.
Title: BRN2 is a non-canonical melanoma tumor-suppressor.
Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder.
Title: Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder.
Unexpected High Levels of BRN2/POU3F2 Expression in Human Dermal Melanocytic Nevi.
Title: Unexpected High Levels of BRN2/POU3F2 Expression in Human Dermal Melanocytic Nevi.
BRN4 Is a Novel Driver of Neuroendocrine Differentiation in Castration-Resistant Prostate Cancer and Is Selectively Released in Extracellular Vesicles with BRN2.
Title: <i>BRN4</i> Is a Novel Driver of Neuroendocrine Differentiation in Castration-Resistant Prostate Cancer and Is Selectively Released in Extracellular Vesicles with <i>BRN2</i>.
Study investigated super-enhancer profiles in lung squamous cell carcinoma (LUSC) and identified a novel subtype in which SOX2 and a neural transcription factor BRN2 have key roles in determining its distinctive differentiation state. BRN2 serves as an interacting partner for SOX2 in this novel subtype, instead of p63 in the classical subtype of LUSC.
Title: Epigenomic Profiling Discovers Trans-lineage SOX2 Partnerships Driving Tumor Heterogeneity in Lung Squamous Cell Carcinoma.
POU3F2 may be a key regulator of gene expression in this disease-associated gene coexpression module.
Title: The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders.
These results suggest that the proliferative population within melanoma tumors express MITF, and both MITF and BRN2 are important for metastatic growth in vivo. This finding highlights the importance of BRN2 and MITF expression in development of melanoma metastasis.
Title: MITF and BRN2 contribute to metastatic growth after dissemination of melanoma.
CDKN2A suppresses the initiation of melanoma invasion through inhibition of BRN2.
Title: Bi-allelic Loss of CDKN2A Initiates Melanoma Invasion via BRN2 Activation.
BRN2 also suppresses an apoptosis-associated gene expression program to protect against UVB-, chemotherapy- and vemurafenib-induced apoptosis. Remarkably, BRN2 expression also correlates with a high single-nucleotide variation prevalence in human melanomas
Title: BRN2 suppresses apoptosis, reprograms DNA damage repair, and is associated with a high somatic mutation burden in melanoma.
NTF3 is a novel target gene of POU3F2 and that the POU3F2/NTF3 pathway plays a role in the process of neuronal differentiation.
Title: NTF3 Is a Novel Target Gene of the Transcription Factor POU3F2 and Is Required for Neuronal Differentiation.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. GeneReviews: Not available
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval. GeneReviews: Not available
Genome-wide association study reveals two new risk loci for bipolar disorder. GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93009 (e-PCR)
- UniSTS:85249

WI-22176 (e-PCR)
- UniSTS:21304

D6S1231E (e-PCR)
- UniSTS:151103

POU3F2__1213 (e-PCR)
- UniSTS:277597

POU3F2__v334 (e-PCR)
- UniSTS:277597

RH12297 (e-PCR)
- UniSTS:44898

WI-19206 (e-PCR)
- UniSTS:48794

PMC196070P1 (e-PCR)
- UniSTS:271795

POU3F2 (e-PCR)
- UniSTS:266184

D6S2053 (e-PCR)
- UniSTS:1498

Homology

Homologs of the POU3F2 gene: The POU3F2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 383 organisms have orthologs with human gene POU3F2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in astrocyte development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to organic substance	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex radially oriented cell migration	IEA Inferred from Electronic Annotation more info
involved_in epidermis development	IEA Inferred from Electronic Annotation more info
involved_in forebrain ventricular zone progenitor cell division	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in myelination in peripheral nervous system	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neurohypophysis development	IEA Inferred from Electronic Annotation more info
involved_in neuron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron fate specification	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: POU domain, class 3, transcription factor 2

Names: brain-2; brain-specific homeobox/POU domain protein 2; nervous system-specific octamer-binding transcription factor N-Oct-3; octamer-binding protein 7; octamer-binding transcription factor 7

NCBI Reference Sequences (RefSeq)

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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.