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Aliases for POU3F2 Gene

Aliases for POU3F2 Gene

  • POU Class 3 Homeobox 2 2 3 5
  • Nervous System-Specific Octamer-Binding Transcription Factor N-Oct-3 3 4
  • Brain-Specific Homeobox/POU Domain Protein 2 3 4
  • Octamer-Binding Transcription Factor 7 3 4
  • Octamer-Binding Protein 7 3 4
  • Brain-2 3 4
  • Brn-2 3 4
  • Oct-7 3 4
  • OTF-7 3 4
  • OTF7 3 4
  • BRN2 3 4
  • OCT7 3 4
  • POU Domain, Class 3, Transcription Factor 2 3
  • POU Domain Class 3, Transcription Factor 2 2
  • N-Oct3 3
  • POUF3 3

External Ids for POU3F2 Gene

Previous HGNC Symbols for POU3F2 Gene

  • OTF7

Previous GeneCards Identifiers for POU3F2 Gene

  • GC06P099150
  • GC06P099299
  • GC06P099328
  • GC06P099295
  • GC06P099389
  • GC06P096721

Summaries for POU3F2 Gene

Entrez Gene Summary for POU3F2 Gene

  • 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]

GeneCards Summary for POU3F2 Gene

POU3F2 (POU Class 3 Homeobox 2) is a Protein Coding gene. Diseases associated with POU3F2 include Melanoma. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Neuroscience. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and identical protein binding. An important paralog of this gene is POU3F3.

UniProtKB/Swiss-Prot for POU3F2 Gene

  • Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, (GCAT) and (TAAT), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL1, and promotes transcription of neuronal genes (By similarity).

Gene Wiki entry for POU3F2 Gene

Additional gene information for POU3F2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU3F2 Gene

Genomics for POU3F2 Gene

Regulatory Elements for POU3F2 Gene

Enhancers for POU3F2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H098832 1.1 FANTOM5 dbSUPER 22.9 -1.9 -1872 0 ZNF202 MAZ SUZ12 ZNF223 ZEB2 ZFHX2 GLIS1 MBD1 SCRT2 FOS POU3F2 PNISR LOC101927365 FBXL4 ENSG00000283010
GH06H098831 0.8 FANTOM5 dbSUPER 20.4 -2.8 -2792 0 ZNF202 CTBP2 EZH2 POU3F2 PNISR LOC101927365 ENSG00000283010 ENSG00000187472
GH06H098845 1.5 FANTOM5 ENCODE dbSUPER 9.7 +11.2 11218 0 RB1 ZSCAN4 ZNF76 KLF17 ZNF2 RAD21 GLIS2 ZNF366 ZNF143 RCOR1 PNISR USP45 POU3F2 GC06M098840 FBXL4
GH06H098824 1.2 FANTOM5 dbSUPER 11.2 -10.0 -10029 0 ZNF76 ZNF2 GLIS2 ZNF366 EGR2 SP3 ZEB2 ZNF398 ZNF341 ZNF24 POU3F2 ENSG00000283010 ENSG00000187472
GH06H098827 0.8 FANTOM5 dbSUPER 14.7 -6.7 -6684 0 ZNF341 EZH2 EGR2 POU3F2 ENSG00000283010 ENSG00000187472
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POU3F2 on UCSC Golden Path with GeneCards custom track

Promoters for POU3F2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200204 8 1201 PKNOX1 FEZF1 GLI4 ZNF2 TCF12 GLIS2 KLF7 ATF7 RUNX3 SP3

Genomic Location for POU3F2 Gene

Chromosome:
6
Start:
98,834,592 bp from pter
End:
98,839,470 bp from pter
Size:
4,879 bases
Orientation:
Plus strand

Genomic View for POU3F2 Gene

Genes around POU3F2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU3F2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU3F2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU3F2 Gene

Proteins for POU3F2 Gene

  • Protein details for POU3F2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20265-PO3F2_HUMAN
    Recommended name:
    POU domain, class 3, transcription factor 2
    Protein Accession:
    P20265
    Secondary Accessions:
    • Q14960
    • Q86V54
    • Q9UJL0

    Protein attributes for POU3F2 Gene

    Size:
    443 amino acids
    Molecular mass:
    46893 Da
    Quaternary structure:
    • Interacts with PQBP1 (PubMed:10332029). Interaction with ISL1 (By similarity).

    Alternative splice isoforms for POU3F2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POU3F2 Gene

Post-translational modifications for POU3F2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU3F2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for POU3F2 (7-Oct)

No data available for DME Specific Peptides for POU3F2 Gene

Domains & Families for POU3F2 Gene

Gene Families for POU3F2 Gene

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

Graphical View of Domain Structure for InterPro Entry

P20265

UniProtKB/Swiss-Prot:

PO3F2_HUMAN :
  • Belongs to the POU transcription factor family. Class-3 subfamily.
Family:
  • Belongs to the POU transcription factor family. Class-3 subfamily.
genes like me logo Genes that share domains with POU3F2: view

Function for POU3F2 Gene

Molecular function for POU3F2 Gene

GENATLAS Biochemistry:
POU domain,class 3,transcription factor 2,murine brain-2 (Brn-2) homolog
UniProtKB/Swiss-Prot Function:
Transcription factor that plays a key role in neuronal differentiation (By similarity). Binds preferentially to the recognition sequence which consists of two distinct half-sites, (GCAT) and (TAAT), separated by a non-conserved spacer region of 0, 2, or 3 nucleotides (By similarity). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Acts downstream of ASCL1, accessing chromatin that has been opened by ASCL1, and promotes transcription of neuronal genes (By similarity).

Phenotypes From GWAS Catalog for POU3F2 Gene

Gene Ontology (GO) - Molecular Function for POU3F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001105 RNA polymerase II transcription coactivator activity IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS,ISS --
genes like me logo Genes that share ontologies with POU3F2: view
genes like me logo Genes that share phenotypes with POU3F2: view

Animal Models for POU3F2 Gene

MGI Knock Outs for POU3F2:

Animal Model Products

CRISPR Products

Transcription Factor Targets for POU3F2 Gene

Selected GeneGlobe predicted Target genes for POU3F2
Targeted motifs for POU3F2 Gene
HOMER Transcription Factor Regulatory Elements motif POU3F2
  • Consensus sequence: ATGAATATTC Submotif: canonical Cell Type: NPC GEO ID: GSE35496

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POU3F2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for POU3F2 Gene

Localization for POU3F2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU3F2 Gene

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 POU3F2 gene
Compartment Confidence
nucleus 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POU3F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with POU3F2: view

Pathways & Interactions for POU3F2 Gene

genes like me logo Genes that share pathways with POU3F2: view

Pathways by source for POU3F2 Gene

1 Cell Signaling Technology pathway for POU3F2 Gene

Gene Ontology (GO) - Biological Process for POU3F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter ISS --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007399 nervous system development ISS --
genes like me logo Genes that share ontologies with POU3F2: view

No data available for SIGNOR curated interactions for POU3F2 Gene

Drugs & Compounds for POU3F2 Gene

(2) Additional Compounds for POU3F2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with POU3F2: view

Transcripts for POU3F2 Gene

mRNA/cDNA for POU3F2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POU3F2 Gene

POU class 3 homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POU3F2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for POU3F2 Gene

No ASD Table

Relevant External Links for POU3F2 Gene

GeneLoc Exon Structure for
POU3F2
ECgene alternative splicing isoforms for
POU3F2

Expression for POU3F2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POU3F2 Gene

mRNA differential expression in normal tissues according to GTEx for POU3F2 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x5.9), Brain - Substantia nigra (x5.3), Brain - Nucleus accumbens (basal ganglia) (x5.0), Brain - Amygdala (x4.9), Brain - Putamen (basal ganglia) (x4.5), Brain - Frontal Cortex (BA9) (x4.2), Brain - Hippocampus (x4.1), and Brain - Spinal cord (cervical c-1) (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POU3F2 Gene



NURSA nuclear receptor signaling pathways regulating expression of POU3F2 Gene:

POU3F2

SOURCE GeneReport for Unigene cluster for POU3F2 Gene:

Hs.182505

mRNA Expression by UniProt/SwissProt for POU3F2 Gene:

P20265-PO3F2_HUMAN
Tissue specificity: Expressed specifically in the neuroectodermal cell lineage.

Evidence on tissue expression from TISSUES for POU3F2 Gene

  • Nervous system(4.6)
  • Liver(4)
genes like me logo Genes that share expression patterns with POU3F2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for POU3F2 Gene

Orthologs for POU3F2 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU3F2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia POU3F2 34
  • 100 (a)
OneToOne
LOC481931 33
  • 96.75 (n)
chimpanzee
(Pan troglodytes)
Mammalia POU3F2 33 34
  • 97.07 (n)
oppossum
(Monodelphis domestica)
Mammalia POU3F2 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POU3F2 33 34
  • 96.12 (n)
mouse
(Mus musculus)
Mammalia Pou3f2 33 16 34
  • 93.83 (n)
rat
(Rattus norvegicus)
Mammalia Pou3f2 33
  • 93.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia POU3F2 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486226 33
  • 79.47 (n)
Str.12364 33
African clawed frog
(Xenopus laevis)
Amphibia pou3f2-A 33
zebrafish
(Danio rerio)
Actinopterygii pou3f2b 33 34
  • 76.22 (n)
pou3f2a 34
  • 73 (a)
OneToMany
pou47 33
fruit fly
(Drosophila melanogaster)
Insecta vvl 35 34
  • 94 (a)
nub 35
  • 62 (a)
pdm2 35
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea ceh-6 35
  • 69 (a)
Species where no ortholog for POU3F2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 POU3F2 Gene

ENSEMBL:
Gene Tree for POU3F2 (if available)
TreeFam:
Gene Tree for POU3F2 (if available)

Paralogs for POU3F2 Gene

(13) SIMAP similar genes for POU3F2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with POU3F2: view

Variants for POU3F2 Gene

Sequence variations from dbSNP and Humsavar for POU3F2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000206538 -- 98,834,546(+) GCCGC(A/T)GCGAG upstream-variant-2KB
rs1000217603 -- 98,834,762(+) GCTGT(A/G)GGAGA utr-variant-5-prime
rs1000481538 -- 98,835,671(+) CCGAC(C/T)TCGGA reference, synonymous-codon
rs1000551991 -- 98,833,909(+) GGTAG(A/G)GGGGA upstream-variant-2KB
rs1000813348 -- 98,834,114(+) CCCAG(A/C)TTTTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for POU3F2 Gene

Variant ID Type Subtype PubMed ID
nsv1029536 CNV loss 25217958
nsv604253 CNV gain 21841781
nsv823787 CNV gain 20364138

Variation tolerance for POU3F2 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POU3F2 Gene

Human Gene Mutation Database (HGMD)
POU3F2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU3F2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU3F2 Gene

Disorders for POU3F2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for POU3F2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for POU3F2

Genetic Association Database (GAD)
POU3F2
Human Genome Epidemiology (HuGE) Navigator
POU3F2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POU3F2
genes like me logo Genes that share disorders with POU3F2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POU3F2 Gene

Publications for POU3F2 Gene

  1. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. (PMID: 16858508) Costa Mdo C … Maciel P (Journal of human genetics 2006) 3 22 45 60
  2. PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. (PMID: 10332029) Waragai M … Okazawa H (Human molecular genetics 1999) 3 4 22 60
  3. The brn-2 gene regulates the melanocytic phenotype and tumorigenic potential of human melanoma cells. (PMID: 7651733) Thomson JA … Thomson F (Oncogene 1995) 3 4 22 60
  4. cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif. (PMID: 8441633) Schreiber E … Fontana A (Nucleic acids research 1993) 2 3 4 60
  5. Genome-wide analysis of POU3F2/BRN2 promoter occupancy in human melanoma cells reveals Kitl as a novel regulated target gene. (PMID: 20337985) Kobi D … Davidson I (Pigment cell & melanoma research 2010) 3 22 60

Products for POU3F2 Gene

Sources for POU3F2 Gene

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