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

Genomic context

Location:: 6q16.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	6	NC_000006.12 (98834574..98839458)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (99282580..99286666)

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 FunctionsWhat's a GeneRIF?

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.
Re4sults show that BRN2 is: directly transcriptionally repressed by AR, required for the expression of terminal neuroendocrine markers and aggressive growth of castration-resistant prostate cancer (CRPC), and is highly expressed in human neuroendocrine prostate cancer and metastatic CRPC with low circulating PSA.
Title: The Master Neural Transcription Factor BRN2 Is an Androgen Receptor-Suppressed Driver of Neuroendocrine Differentiation in Prostate Cancer.
These findings not only shed light on the molecular mechanism of the anticancer properties of capsaicin, but also the transcription regulation of tNOX expression that may potentially explain how POU3F2 is associated with tumorigenesis.
Title: Capsaicin Inhibited Aggressive Phenotypes through Downregulation of Tumor-Associated NADH Oxidase (tNOX) by POU Domain Transcription Factor POU3F2.
Data indicate that NFIB protein increases EZH2 protein expression downstream of BRN2 protein, which further decreases MITF protein levels.
Title: NFIB Mediates BRN2 Driven Melanoma Cell Migration and Invasion Through Regulation of EZH2 and MITF.
We show that POU3F2 lies downstreamof SIM1 and controls oxytocin expression in the hypothalamic neuroendocrine preoptic area. We show that this finding is consistent with the expression patterns of POU3F2 and related genes in the human brain.
Title: Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
BRN2 is a higher level regulator than ASCL1 and ND1 and BRN2 might be involved in aggressiveness of small cell lung cancer.
Title: POU domain transcription factor BRN2 is crucial for expression of ASCL1, ND1 and neuroendocrine marker molecules and cell growth in small cell lung cancer.
TTF1 expression in small-cell lung cancer is a cell lineage-specific phenomenon that involves the developing neural cell-specific homeoprotein BRN2.
Title: Neural lineage-specific homeoprotein BRN2 is directly involved in TTF1 expression in small-cell lung cancer.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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

NHGRI GWAS Catalog

Description
A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genome-wide association study reveals two new risk loci for bipolar disorder. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

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: 208 organisms have orthologs with human gene POU3F2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
RNA polymerase II proximal promoter sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transcription coactivator activity	IEA Inferred from Electronic Annotation more info

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

Component	Evidence Code	Pubs
nucleus	IDA Inferred from Direct Assay more info
transcription factor 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.