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; AllianceGenome:HGNC:9215
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
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (98834574..98839458)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (100008944..100013827)
105.20220307	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?

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Title: Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Integrin alpha3 Mediates Stemness and Invasion of Glioblastoma by Regulating POU3F2.
Title: Integrin α3 Mediates Stemness and Invasion of Glioblastoma by Regulating POU3F2.
CircPOLR2A Promotes Proliferation and Impedes Apoptosis of Glioblastoma Multiforme Cells by Up-regulating POU3F2 to Facilitate SOX9 Transcription.
Title: CircPOLR2A Promotes Proliferation and Impedes Apoptosis of Glioblastoma Multiforme Cells by Up-regulating POU3F2 to Facilitate SOX9 Transcription.
Reciprocal Regulation of BRN2 and NOTCH1/2 Signaling Synergistically Drives Melanoma Cell Migration and Invasion.
Title: Reciprocal Regulation of BRN2 and NOTCH1/2 Signaling Synergistically Drives Melanoma Cell Migration and Invasion.
Transcription factor POU3F2 regulates TRIM8 expression contributing to cellular functions implicated in schizophrenia.
Title: Transcription factor POU3F2 regulates TRIM8 expression contributing to cellular functions implicated in schizophrenia.
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: BRN4 Is a Novel Driver of Neuroendocrine Differentiation in Castration-Resistant Prostate Cancer and Is Selectively Released in Extracellular Vesicles with BRN2.
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.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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

EBI GWAS Catalog

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

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

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
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
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 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 astrocyte 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 neuroendocrine cell differentiation	IEA Inferred from Electronic Annotation 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
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of 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.