The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011] See more...

Aliases for POU4F2 Gene

Aliases for POU4F2 Gene

  • POU Class 4 Homeobox 2 2 3 5
  • POU Domain, Class 4, Transcription Factor 2 2 3 4
  • Brain-Specific Homeobox/POU Domain Protein 3B 3 4
  • Brain-3B 3 4
  • Brn-3b 2 3
  • BRN3B 3 4
  • POU Domain Class 4, Transcription Factor 2 2
  • Brn3b POU Domain Transcription Factor 3
  • POU Domain Protein 3
  • BRN3.2 3
  • POU4F2 5
  • Brn-3B 4

External Ids for POU4F2 Gene

Previous HGNC Symbols for POU4F2 Gene

  • BRN3B

Previous GeneCards Identifiers for POU4F2 Gene

  • GC04P148362
  • GC04P147935
  • GC04P148137
  • GC04P147917
  • GC04P147779
  • GC04P147560
  • GC04P143287

Summaries for POU4F2 Gene

Entrez Gene Summary for POU4F2 Gene

  • The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]

GeneCards Summary for POU4F2 Gene

POU4F2 (POU Class 4 Homeobox 2) is a Protein Coding gene. Diseases associated with POU4F2 include Differentiating Neuroblastoma and Thrombophlebitis Migrans. Among its related pathways are Gene Expression and Direct p53 effectors. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is POU4F1.

UniProtKB/Swiss-Prot Summary for POU4F2 Gene

  • Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells (PubMed:19266028, PubMed:23805044). Functions either as activator or repressor modulating the rate of target gene transcription through RNA polymerase II enzyme in a promoter-dependent manner (PubMed:19266028, PubMed:23805044). Binds to the consensus octamer motif 5'-AT[A/T]A[T/A]T[A/T]A-3' of promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Binds to an octamer site to form a ternary complex with ISL1; cooperates positively with ISL1 and ISL2 to potentiate transcriptional activation of RGC target genes being involved in RGC fate commitment in the developing retina and RGC axon formation and pathfinding. Inhibits DLX1 and DLX2 transcriptional activities preventing DLX1- and DLX2-mediated ability to promote amacrine cell fate specification. In cooperation with TP53 potentiates transcriptional activation of BAX promoter activity increasing neuronal cell apoptosis. Negatively regulates BAX promoter activity in the absence of TP53. Acts as a transcriptional coactivator via its interaction with the transcription factor ESR1 by enhancing its effect on estrogen response element (ERE)-containing promoter. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to an octamer motif. Involved in TNFSF11-mediated terminal osteoclast differentiation (By similarity).

Gene Wiki entry for POU4F2 Gene

Additional gene information for POU4F2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POU4F2 Gene

Genomics for POU4F2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POU4F2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J146638 Promoter 1.3 EPDnew Ensembl 600.7 -0.6 -592 2.2 ZBTB33 PRDM10 REST TFE3 KDM1A PRDM1 ZIC2 ZSCAN4 RXRB IRF2 POU4F2 lnc-POU4F2-1 SLC10A7
GH04J146328 Enhancer 0.9 FANTOM5 Ensembl ENCODE 9.8 -309.3 -309292 3.6 JUND JUN FOS EP300 MAFK YY1 NFE2L2 POLR2A ENSG00000251010 POU4F2 lnc-TTC29-2 LOC105377472 REELD1 SLC10A7 lnc-TTC29-1
GH04J146974 Enhancer 0.8 Ensembl ENCODE 9.9 +337.0 336995 2.2 POLR2A ZBTB44 ZSCAN5C OSR2 ZNF580 ZNF610 SPI1 TAL1 CEBPB FEZF1 TTC29 ENSG00000248346 POU4F2 ENSG00000260090 LOC105377473 EDNRA
GH04J146269 Enhancer 0.7 FANTOM5 9.3 -369.4 -369384 0.2 IKZF2 TRIM22 EED ARID3A DPF2 RELB RUNX3 ASH2L BCLAF1 ZNF592 ENSG00000251010 REELD1 POU4F2 ZNF827 LSM6 HSALNG0037711 SLC10A7
GH04J146333 Enhancer 0.7 ENCODE 10.1 -304.9 -304936 0.8 PRDM10 IKZF2 TRIM22 PKNOX1 EED RELB RUNX3 ZSCAN5C NBN HDGF ENSG00000251010 POU4F2 lnc-TTC29-2 LOC105377472 REELD1 SLC10A7 lnc-TTC29-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU4F2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POU4F2

Top Transcription factor binding sites by QIAGEN in the POU4F2 gene promoter:
  • ATF-2
  • CRE-BP1
  • Ik-2
  • NRSF form 1
  • NRSF form 2
  • p53
  • RSRFC4
  • SRY

Genomic Locations for POU4F2 Gene

Genomic Locations for POU4F2 Gene
chr4:146,638,893-146,642,474
(GRCh38/hg38)
Size:
3,582 bases
Orientation:
Plus strand
chr4:147,560,045-147,563,626
(GRCh37/hg19)
Size:
3,582 bases
Orientation:
Plus strand

Genomic View for POU4F2 Gene

Genes around POU4F2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU4F2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU4F2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU4F2 Gene

Proteins for POU4F2 Gene

  • Protein details for POU4F2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12837-PO4F2_HUMAN
    Recommended name:
    POU domain, class 4, transcription factor 2
    Protein Accession:
    Q12837
    Secondary Accessions:
    • B1PJR6
    • B2RC84
    • Q13883
    • Q14987

    Protein attributes for POU4F2 Gene

    Size:
    409 amino acids
    Molecular mass:
    43087 Da
    Quaternary structure:
    • Interacts with POU4F1; this interaction inhibits both POU4F1 DNA-binding and transcriptional activities. Interacts (C-terminus) with ESR1 (via DNA-binding domain); this interaction increases the estrogen receptor ESR1 transcriptional activity in a DNA- and ligand 17-beta-estradiol-independent manner. Interacts (via C-terminus) with TP53 (via N-terminus). Interacts with DLX1 (via homeobox DNA-binding domain); this interaction suppresses DLX1-mediated transcriptional activity in postnatal retina enhancing retinal ganglion cell (RGC) differentiation. Interacts with DLX2 (via homeobox DNA-binding domain); this interaction enhances RGC differentiation. Interacts (via C-terminus) with ISL1 (via C-terminus). Interacts with ISL2. Interacts with LHX2.

    Alternative splice isoforms for POU4F2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POU4F2 Gene

Post-translational modifications for POU4F2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU4F2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU4F2 Gene

Domains & Families for POU4F2 Gene

Gene Families for POU4F2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for POU4F2 Gene

Suggested Antigen Peptide Sequences for POU4F2 Gene

GenScript: Design optimal peptide antigens:
  • Brain-specific homeobox/POU domain protein 3B (PO4F2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12837

UniProtKB/Swiss-Prot:

PO4F2_HUMAN :
  • The N-terminal transcriptional activation region is sufficient to induce transcriptional activity.
  • Belongs to the POU transcription factor family. Class-4 subfamily.
Domain:
  • The N-terminal transcriptional activation region is sufficient to induce transcriptional activity.
  • The POU-specific domain and POU homeodomain regions are necessary for DNA-binding activity and transcriptional repression.
  • The polyhistidine motif acts as a targeting signal to nuclear speckles.
Family:
  • Belongs to the POU transcription factor family. Class-4 subfamily.
genes like me logo Genes that share domains with POU4F2: view

Function for POU4F2 Gene

Molecular function for POU4F2 Gene

UniProtKB/Swiss-Prot Function:
Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells (PubMed:19266028, PubMed:23805044). Functions either as activator or repressor modulating the rate of target gene transcription through RNA polymerase II enzyme in a promoter-dependent manner (PubMed:19266028, PubMed:23805044). Binds to the consensus octamer motif 5'-AT[A/T]A[T/A]T[A/T]A-3' of promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Binds to an octamer site to form a ternary complex with ISL1; cooperates positively with ISL1 and ISL2 to potentiate transcriptional activation of RGC target genes being involved in RGC fate commitment in the developing retina and RGC axon formation and pathfinding. Inhibits DLX1 and DLX2 transcriptional activities preventing DLX1- and DLX2-mediated ability to promote amacrine cell fate specification. In cooperation with TP53 potentiates transcriptional activation of BAX promoter activity increasing neuronal cell apoptosis. Negatively regulates BAX promoter activity in the absence of TP53. Acts as a transcriptional coactivator via its interaction with the transcription factor ESR1 by enhancing its effect on estrogen response element (ERE)-containing promoter. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to an octamer motif. Involved in TNFSF11-mediated terminal osteoclast differentiation (By similarity).
GENATLAS Biochemistry:
POU domain,class 4,transcription factor 2,expressed in a subset of retinal ganglion cells

Phenotypes From GWAS Catalog for POU4F2 Gene

Gene Ontology (GO) - Molecular Function for POU4F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 17637757
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA,ISS --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,ISS 17145718
GO:0002039 p53 binding IEA --
genes like me logo Genes that share ontologies with POU4F2: view
genes like me logo Genes that share phenotypes with POU4F2: view

Animal Models for POU4F2 Gene

MGI Knock Outs for POU4F2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU4F2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POU4F2 Gene

Localization for POU4F2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU4F2 Gene

Nucleus. Nucleus speckle. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU4F2 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for POU4F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,ISS --
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IGI 17145718
GO:0005719 nuclear euchromatin IEA --
genes like me logo Genes that share ontologies with POU4F2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POU4F2 Gene

Pathways & Interactions for POU4F2 Gene

genes like me logo Genes that share pathways with POU4F2: view

SIGNOR curated interactions for POU4F2 Gene

Activates:

Gene Ontology (GO) - Biological Process for POU4F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,ISS --
GO:0000165 MAPK cascade IDA 21241485
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with POU4F2: view

Drugs & Compounds for POU4F2 Gene

(3) Drugs for POU4F2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with POU4F2: view

Transcripts for POU4F2 Gene

mRNA/cDNA for POU4F2 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU4F2

Alternative Splicing Database (ASD) splice patterns (SP) for POU4F2 Gene

No ASD Table

Relevant External Links for POU4F2 Gene

GeneLoc Exon Structure for
POU4F2

Expression for POU4F2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POU4F2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POU4F2 Gene

This gene is overexpressed in Testis (x32.8) and Brain - Substantia nigra (x11.0).

Protein differential expression in normal tissues from HIPED for POU4F2 Gene

This gene is overexpressed in Lavage (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POU4F2 Gene



Protein tissue co-expression partners for POU4F2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POU4F2

SOURCE GeneReport for Unigene cluster for POU4F2 Gene:

Hs.266

mRNA Expression by UniProt/SwissProt for POU4F2 Gene:

Q12837-PO4F2_HUMAN
Tissue specificity: Expressed in the brain (PubMed:7691107). Expressed in the ganglion cell layer of the retina (PubMed:7691107).

Evidence on tissue expression from TISSUES for POU4F2 Gene

  • Eye(4.6)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with POU4F2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for POU4F2 Gene

Orthologs for POU4F2 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU4F2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POU4F2 30 31
  • 97.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POU4F2 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia POU4F2 30 31
  • 91.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POU4F2 30 31
  • 91.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pou4f2 30
  • 89.16 (n)
Mouse
(Mus musculus)
Mammalia Pou4f2 30 17 31
  • 88.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POU4F2 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BRN3 31
  • 72 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pou4f2 30
  • 78.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii pou4f2 30 31
  • 77.55 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta acj6 31 32
  • 50 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-86 31 32
  • 41 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToMany
Species where no ortholog for POU4F2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for POU4F2 Gene

ENSEMBL:
Gene Tree for POU4F2 (if available)
TreeFam:
Gene Tree for POU4F2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POU4F2: view image

Paralogs for POU4F2 Gene

(6) SIMAP similar genes for POU4F2 Gene using alignment to 1 proteins:

  • PO4F2_HUMAN
genes like me logo Genes that share paralogs with POU4F2: view

Variants for POU4F2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POU4F2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
781733 Benign: not provided 146,640,520(+) G/T SYNONYMOUS_VARIANT
790312 Benign: not provided 146,639,995(+) C/A MISSENSE_VARIANT
rs13152799 - p.Ile40Thr

Additional dbSNP identifiers (rs#s) for POU4F2 Gene

Structural Variations from Database of Genomic Variants (DGV) for POU4F2 Gene

Variant ID Type Subtype PubMed ID
esv3894049 CNV gain 25118596
nsv461675 CNV gain 19166990
nsv595651 CNV gain 21841781
nsv822768 CNV gain 20364138
nsv830107 CNV gain 17160897

Variation tolerance for POU4F2 Gene

Residual Variation Intolerance Score: 32.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.04; 75.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POU4F2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU4F2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU4F2 Gene

Disorders for POU4F2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for POU4F2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
differentiating neuroblastoma
thrombophlebitis migrans
optic nerve hypoplasia, bilateral
  • optic nerve hypoplasia
ischemic neuropathy
  • ischemic peripheral neuropathy
optic nerve disease
  • disorder of the second nerve
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with POU4F2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POU4F2 Gene

Publications for POU4F2 Gene

  1. The Brn-3b POU family transcription factor regulates the cellular growth, proliferation, and anchorage dependence of MCF7 human breast cancer cells. (PMID: 11526481) Dennis JH … Latchman DS (Oncogene 2001) 3 4 23
  2. Brn-3b: a POU domain gene expressed in a subset of retinal ganglion cells. (PMID: 7691107) Xiang M … Nathans J (Neuron 1993) 3 4 23
  3. The human Brn-3b POU transcription factor shows only limited homology to the Brn-3a/RDC-1 factor outside the conserved POU domain. (PMID: 8332509) Ring CJ … Latchman DS (Nucleic acids research 1993) 2 3 4
  4. RIT2, a neuron-specific small guanosine triphosphatase, is expressed in retinal neuronal cells and its promoter is modulated by the POU4 transcription factors. (PMID: 23805044) Zhang L … Esumi N (Molecular vision 2013) 3 4
  5. Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment. (PMID: 19266028) Salichs E … de la Luna S (PLoS genetics 2009) 3 4

Products for POU4F2 Gene

Sources for POU4F2 Gene