POU3F3 POU class 3 homeobox 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: POU3F3provided by HGNC
Official Full Name: POU class 3 homeobox 3provided by HGNC
Primary source: HGNC:HGNC:9216
See related: Ensembl:ENSG00000198914 MIM:602480; AllianceGenome:HGNC:9216
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: BRN1; OTF8; oct-8; SNIBFIS; brain-1
Summary: This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
Orthologs: mouse all
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Genomic context

Location:: 2q12.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (104854115..104858574)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (105315296..105319755)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (105470573..105475032)

Chromosome 2 - NC_000002.12 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?

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Title: POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Long Noncoding RNA POU3F3 and alpha-Synuclein in Plasma L1CAM Exosomes Combined with beta-Glucocerebrosidase Activity: Potential Predictors of Parkinson's Disease.
Title: Long Noncoding RNA POU3F3 and α-Synuclein in Plasma L1CAM Exosomes Combined with β-Glucocerebrosidase Activity: Potential Predictors of Parkinson's Disease.
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.
Title: Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok-Fisher syndrome suggests the presence of a POU3F3-related SNIBFIS endophenotype: A case report.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause Neurodevelopmental Disorders.
Title: De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
the present study showed that lncRNA POU3F3 may promote proliferation and inhibit apoptosis of cancer cells in triple-negative breast cancer by inactivating caspase 9.
Title: LncRNA POU3F3 promotes proliferation and inhibits apoptosis of cancer cells in triple-negative breast cancer by inactivating caspase 9.
Data show that the long noncoding RNA encoded by a gene next to POU3F3 (linc-POU3F3) is a potential therapeutic target and novel molecular biomarker for colorectal cancer (CRC).
Title: Knockdown of linc-POU3F3 suppresses the proliferation, apoptosis, and migration resistance of colorectal cancer.
linc-POU3F3 might affect glioma development via altering expression level of POU3F3, and may also have a crucial regulatory role in glioma progression
Title: Functional linc-POU3F3 is overexpressed and contributes to tumorigenesis in glioma.
Long intergenic non-protein coding RNA POU3F3 contributes to the development of ESCC by interacting with EZH2 to promote methylation of POU3F3, which encodes a transcription factor.
Title: Increased levels of the long intergenic non-protein coding RNA POU3F3 promote DNA methylation in esophageal squamous cell carcinoma cells.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Snijders blok-fisher syndrome MedGen: C5231424 OMIM: 618604 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. 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

D9M1Mit228 (e-PCR)
- UniSTS:128572

D1Mit228.1 (e-PCR), detects polymorphism
- UniSTS:128572

NoName (e-PCR)
- UniSTS:481875

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
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 HMG box domain binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in cerebral cortex radially oriented cell migration	IEA Inferred from Electronic Annotation more info
involved_in chemical homeostasis	IEA Inferred from Electronic Annotation more info
involved_in forebrain ventricular zone progenitor cell division	IEA Inferred from Electronic Annotation more info
involved_in metanephric DCT cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric ascending thin limb development	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric loop of Henle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric macula densa development	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric thick ascending limb development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	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 urea transmembrane transport	IEA Inferred from Electronic Annotation 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 nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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

Names: brain-specific homeobox/POU domain protein 1; octamer-binding protein 8; octamer-binding transcription factor 8

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.

mRNA and Protein(s)

NM_001433704.1 → NP_001420633.1 POU domain, class 3, transcription factor 3

Status: REVIEWED

Source sequence(s)

AC018730

UniProtKB/Swiss-Prot

P20264, P78379, Q4ZG25
NM_006236.3 → NP_006227.1 POU domain, class 3, transcription factor 3

See identical proteins and their annotated locations for NP_006227.1

Status: REVIEWED

Source sequence(s)

AC018730, CX873380, CX873394

Consensus CDS

CCDS33265.1

UniProtKB/Swiss-Prot

P20264, P78379, Q4ZG25

Related

ENSP00000355001.2, ENST00000361360.4

Conserved Domains (2) summary

smart00352
Location:314 → 388

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:409 → 463

Homeobox; Homeobox domain