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] See more...

Aliases for POU3F3 Gene

Aliases for POU3F3 Gene

  • POU Class 3 Homeobox 3 2 3 5
  • Brain-Specific Homeobox/POU Domain Protein 1 3 4
  • POU Domain, Class 3, Transcription Factor 3 3 4
  • Octamer-Binding Transcription Factor 8 3 4
  • Octamer-Binding Protein 8 3 4
  • Brain-1 3 4
  • Oct-8 3 4
  • BRN1 3 4
  • OTF8 3 4
  • POU Domain Class 3, Transcription Factor 3 2
  • SNIBFIS 3
  • Brn-1 4
  • OTF-8 4

External Ids for POU3F3 Gene

Previous GeneCards Identifiers for POU3F3 Gene

  • GC02P103336
  • GC02P103924
  • GC02P105076
  • GC02P105093
  • GC02P104930
  • GC02P105471
  • GC02P099242

Summaries for POU3F3 Gene

Entrez Gene Summary for POU3F3 Gene

  • 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]

GeneCards Summary for POU3F3 Gene

POU3F3 (POU Class 3 Homeobox 3) is a Protein Coding gene. Diseases associated with POU3F3 include Snijders Blok-Fisher Syndrome and Esophageal Cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and HMG box domain binding. An important paralog of this gene is POU3F2.

UniProtKB/Swiss-Prot Summary for POU3F3 Gene

  • Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development. Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT-3') (By similarity).

Additional gene information for POU3F3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POU3F3 Gene

Genomics for POU3F3 Gene

GeneHancer (GH) Regulatory Elements for POU3F3 Gene

Promoters and enhancers for POU3F3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU3F3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POU3F3

Top Transcription factor binding sites by QIAGEN in the POU3F3 gene promoter:
  • Bach2
  • Chx10
  • CUTL1
  • FOXF2
  • GR
  • GR-alpha
  • N-Myc
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for POU3F3 Gene

Genomic Locations for POU3F3 Gene
chr2:104,854,115-104,858,574
(GRCh38/hg38)
Size:
4,460 bases
Orientation:
Plus strand
chr2:105,471,969-105,476,929
(GRCh37/hg19)
Size:
4,961 bases
Orientation:
Plus strand

Genomic View for POU3F3 Gene

Genes around POU3F3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU3F3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU3F3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU3F3 Gene

Proteins for POU3F3 Gene

  • Protein details for POU3F3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20264-PO3F3_HUMAN
    Recommended name:
    POU domain, class 3, transcription factor 3
    Protein Accession:
    P20264
    Secondary Accessions:
    • P78379
    • Q4ZG25

    Protein attributes for POU3F3 Gene

    Size:
    500 amino acids
    Molecular mass:
    50327 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POU3F3 Gene

Post-translational modifications for POU3F3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU3F3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU3F3 Gene

Domains & Families for POU3F3 Gene

Gene Families for POU3F3 Gene

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

Protein Domains for POU3F3 Gene

Suggested Antigen Peptide Sequences for POU3F3 Gene

GenScript: Design optimal peptide antigens:
  • Octamer-binding transcription factor 8 (PO3F3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20264

UniProtKB/Swiss-Prot:

PO3F3_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 POU3F3: view

Function for POU3F3 Gene

Molecular function for POU3F3 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that acts synergistically with SOX11 and SOX4. Plays a role in neuronal development. Is implicated in an enhancer activity at the embryonic met-mesencephalic junction; the enhancer element contains the octamer motif (5'-ATTTGCAT-3') (By similarity).
GENATLAS Biochemistry:
POU domain,class 3,transcription factor 3,expressed in brain

Phenotypes From GWAS Catalog for POU3F3 Gene

Gene Ontology (GO) - Molecular Function for POU3F3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 8703082
GO:0043565 sequence-specific DNA binding ISS --
GO:0071837 HMG box domain binding IEA --
genes like me logo Genes that share ontologies with POU3F3: view
genes like me logo Genes that share phenotypes with POU3F3: view

Animal Models for POU3F3 Gene

MGI Knock Outs for POU3F3:

Animal Model Products

CRISPR Products

Targeted motifs for POU3F3 Gene
HOMER Transcription Factor Regulatory Elements motif POU3F3
  • Consensus sequence: TATGCWAATBAV Submotif: canonical Cell Type: NPC GEO ID: GSE35496

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for POU3F3 Gene

Localization for POU3F3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU3F3 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 POU3F3 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POU3F3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus ISS,IDA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with POU3F3: view

Pathways & Interactions for POU3F3 Gene

PathCards logo

SuperPathways for POU3F3 Gene

No Data Available

SIGNOR curated interactions for POU3F3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for POU3F3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with POU3F3: view

No data available for Pathways by source for POU3F3 Gene

Drugs & Compounds for POU3F3 Gene

No Compound Related Data Available

Transcripts for POU3F3 Gene

mRNA/cDNA for POU3F3 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POU3F3 Gene

No ASD Table

Relevant External Links for POU3F3 Gene

GeneLoc Exon Structure for
POU3F3

Expression for POU3F3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POU3F3 Gene

mRNA differential expression in normal tissues according to GTEx for POU3F3 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.3), Brain - Hippocampus (x4.3), Brain - Substantia nigra (x4.3), Brain - Anterior cingulate cortex (BA24) (x4.1), Brain - Amygdala (x4.1), and Brain - Caudate (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for POU3F3 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POU3F3 Gene



Protein tissue co-expression partners for POU3F3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POU3F3

SOURCE GeneReport for Unigene cluster for POU3F3 Gene:

Hs.673855

mRNA Expression by UniProt/SwissProt for POU3F3 Gene:

P20264-PO3F3_HUMAN
Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for POU3F3 Gene

  • Nervous system(4.5)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with POU3F3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for POU3F3 Gene

Orthologs for POU3F3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POU3F3 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia POU3F3 31
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pou3f3 30
  • 89.6 (n)
mouse
(Mus musculus)
Mammalia Pou3f3 17 31 30
  • 89.54 (n)
dog
(Canis familiaris)
Mammalia POU3F3 31
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 71 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia POU3F3 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497507 30
  • 76.51 (n)
zebrafish
(Danio rerio)
Actinopterygii pou3f3a 31
  • 75 (a)
OneToMany
pou3f3b 31 30
  • 74.92 (n)
OneToMany
-- 30
fruit fly
(Drosophila melanogaster)
Insecta nub 32
  • 64 (a)
pdm2 32
  • 61 (a)
vvl 31 32
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-6 32
  • 69 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOX1 33
Species where no ortholog for POU3F3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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 POU3F3 Gene

ENSEMBL:
Gene Tree for POU3F3 (if available)
TreeFam:
Gene Tree for POU3F3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POU3F3: view image

Paralogs for POU3F3 Gene

(10) SIMAP similar genes for POU3F3 Gene using alignment to 1 proteins:

  • PO3F3_HUMAN
genes like me logo Genes that share paralogs with POU3F3: view

Variants for POU3F3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POU3F3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
691582 Pathogenic: SNIJDERS BLOK-FISHER SYNDROME 104,856,595(+) G/T MISSENSE_VARIANT
691583 Pathogenic: SNIJDERS BLOK-FISHER SYNDROME 104,856,730(+) G/T MISSENSE_VARIANT
691584 Pathogenic: SNIJDERS BLOK-FISHER SYNDROME 104,856,877(+) A/G MISSENSE_VARIANT
691585 Pathogenic: SNIJDERS BLOK-FISHER SYNDROME 104,855,706(+) GA/T FRAMESHIFT_VARIANT
691586 Pathogenic: SNIJDERS BLOK-FISHER SYNDROME 104,856,178(+) C/A NONSENSE

Additional dbSNP identifiers (rs#s) for POU3F3 Gene

Structural Variations from Database of Genomic Variants (DGV) for POU3F3 Gene

Variant ID Type Subtype PubMed ID
dgv658n67 CNV gain 20364138
esv2660782 CNV deletion 23128226
esv2661949 CNV deletion 23128226
nsv1072960 CNV deletion 25765185
nsv1126557 CNV deletion 24896259
nsv1136303 CNV deletion 24896259
nsv829586 CNV gain 20364138
nsv829587 CNV loss 20364138
nsv829589 CNV gain 20364138
nsv829597 CNV gain 20364138

Variation tolerance for POU3F3 Gene

Gene Damage Index Score: 1.20; 24.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POU3F3 Gene

Human Gene Mutation Database (HGMD)
POU3F3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU3F3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU3F3 Gene

Disorders for POU3F3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for POU3F3 Gene - From: LncRNADisease, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
snijders blok-fisher syndrome
  • snibfis
esophageal cancer
  • esophageal cancer, somatic
central nervous system tuberculosis
  • intracranial tuberculoma
optic nerve astrocytoma
  • astrocytic tumor of optic nerve
schizophrenia 4
  • sczd4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POU3F3

genes like me logo Genes that share disorders with POU3F3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POU3F3 Gene

Publications for POU3F3 Gene

  1. Cooperative function of POU proteins and SOX proteins in glial cells. (PMID: 9632656) Kuhlbrodt K … Wegner M (The Journal of biological chemistry 1998) 3 23 54
  2. Class III POU genes: generation of homopolymeric amino acid repeats under GC pressure in mammals. (PMID: 8703082) Sumiyama K … Ueda S (Journal of molecular evolution 1996) 3 4 54
  3. Expression of a large family of POU-domain regulatory genes in mammalian brain development. (PMID: 2739723) He X … Rosenfeld MG (Nature 1989) 3 4 54
  4. LncRNA POU3F3 promotes proliferation and inhibits apoptosis of cancer cells in triple-negative breast cancer by inactivating caspase 9. (PMID: 30843771) Yang J … Lin W (Bioscience, biotechnology, and biochemistry 2019) 3 54
  5. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. (PMID: 29180619) Kumar R … Vertegaal ACO (Nature communications 2017) 3 54

Products for POU3F3 Gene

Sources for POU3F3 Gene