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POU4F2 Gene(Protein Coding)

POU Class 4 Homeobox 2

GCID:
GC04P146638
GIFtS:
46
Genes Participants
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Aliases for POU4F2 Gene

Aliases for POU4F2 Gene

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

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 Breast Cancer. Among its related pathways are Gene Expression and Regulation of TP53 Activity. 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 for POU4F2 Gene

  • DNA-binding transcriptional regulator and coregulator that recognizes and binds to the consensus octamer binding site 5-AT[A/T]A[T/A]T[A/T]A-3 in promoter of target genes (PubMed:19266028, PubMed:23805044). Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor ISL1 to achieve RGC fate specification in the developing retina. Plays also a role in RGC axon formation and guidance by regulating gene expression of specific target genes. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Binds chromatin at promoter region of target genes (By similarity).

  • Isoform 1: Acts either as a transcriptional activator or repressor (PubMed:19266028, PubMed:23805044). Negatively regulates transcriptional activity of homeobox domain transcriptional factors DLX1 and DLX2, and hence prevents DLX1- and DLX2-mediated ability to promote amacrine cells specification. Involved in the positive regulation of the transcriptional factor PAX6 expression through its binding to the neuroretina-specific enhancer in neuroretina cells. Mediates positive transcriptional regulation of heat shock protein HSPB1 expression in cardiac myocytes. Positively regulates POU4F1 expression by interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site of the POU4F1 gene promoter. Plays a role in the regulation of breast cancer cell growth by promoting transcription activation as well as repression of specific target genes. Involved in tumor breast progression and invasion (By similarity). Stimulates the promoter activity of the GTP-binding protein RIT2 gene containing the octamer binding site in retinal ganglion cells (PubMed:23805044). Plays also a role either as a transcriptional coactivator or corepressor. Transcriptional coactivator cooperating with transcription factors ISL1 and ISL2 to potentiate transcriptional activation of retinal ganglion cell (RGC) target genes. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to the octamer motif. Binds to the octamer binding site to form a ternary complex with ISL1 in promoter of target genes (By similarity).

  • Isoform 2: Acts either as a transcriptional activator or repressor (PubMed:23805044). Stimulates the promoter activity of the neuronal nicotinic acetylcholine receptor alpha CHRNA2. Negatively regulates the apoptosis regulator BAX promoter activity. Inhibits promoter activity of the neuronal intermediate filament protein alpha-internexin INA gene. Plays a role in the regulation of breast cancer cell growth by promoting transcription activation as well as repression of specific target genes. Involved in tumor breast progression and invasion (By similarity). Inhibits the promoter activity of the GTP-binding protein RIT2 gene containing the octamer binding site in retinal ganglion cells (PubMed:23805044). Plays also a role either as transcriptional coactivator or corepressor. Transcriptional coactivator cooperating with transcription factors TP53 to potentiate transcriptional activation of BAX promoter activity, and hence increases neuronal cell apoptosis. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to the octamer motif. Acts also as a transcriptional coactivator via its interaction with the transcription factor ESR1 (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 , fRNAdb sequence ontologies and piRNA Summary for POU4F2 Gene

Genomics for POU4F2 Gene

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GeneHancer (GH) Regulatory Elements for POU4F2 Gene

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
GH04I146638 Promoter 0.9 EPDnew 550.8 0.0 -19 0.1 MAZ SP3 ZFP37 SIN3A ZNF335 ZNF341 CTBP2 ZBTB26 EZH2 POU4F2 RNU1-44P
GH04I146333 Enhancer 0.9 Ensembl ENCODE 10.1 -305.0 -305003 1 HDGF PKNOX1 FOXA2 ZBTB6 BATF IRF4 ZSCAN5C PRDM10 ETV6 IKZF2 ENSG00000251010 POU4F2 LOC105377472 GC04P146380 SLC10A7
GH04I146328 Enhancer 0.9 FANTOM5 Ensembl ENCODE 9.8 -309.2 -309191 3 JUND POLR2A JUN FOS EP300 ENSG00000251010 POU4F2 LOC105377472 GC04P146380 SLC10A7
GH04I146269 Enhancer 0.7 FANTOM5 9.3 -369.4 -369384 0.2 ATF7 BCLAF1 IKZF2 RUNX3 SRF ZNF687 ZBED1 NR2F1 TRIM22 DPF2 ENSG00000251010 REELD1 POU4F2 ZNF827 LSM6 LOC105377472 SLC10A7
GH04I146974 Enhancer 0.6 ENCODE 9.9 +336.4 336357 0.9 TEAD4 TAL1 CEBPB CBFA2T3 ZBTB8A OSR2 PRDM6 GATA3 ZNF610 POLR2A TTC29 POU4F2 GC04M146965 ENSG00000248346 ENSG00000260090 LOC105377473
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POU4F2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POU4F2 gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for POU4F2 Gene

Proteins for POU4F2 Gene

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  • 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:
    • Isoform 1: Interacts with DLX1 (via homeobox DNA-binding domain); this interaction suppresses DLX1-mediated transcriptional activity in postnatal retina and enhances retinal ganglion cell (RGC) differentiation. Isoform 1: Interacts with DLX2 (via homeobox DNA-binding domain); this interaction enhances RGC differentiation. Isoform 1: Interacts (via C-terminus) with ISL1 (via C-terminus). Isoform 1: Interacts with ISL2. Isoform 1 interacts with LHX2. Isoform 2: Interacts (via C-terminus) with TP53 (via C-terminus). Isoform 2: Interacts with POU4F1 isoform 1; this interaction inhibits both POU4F1 DNA-binding and transcriptional activities. Isoform 2: 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.

    Alternative splice isoforms for POU4F2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POU4F2 Gene

Protein Expression for POU4F2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for POU4F2 Gene

No Post-translational modifications

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for POU4F2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12837

UniProtKB/Swiss-Prot:

PO4F2_HUMAN :
  • The transcriptional activation domain within the N-terminal region is sufficient to induce transcriptional activity. The transcriptional repression domain containing the POU-specific domain and POU homeodomain is necessary for DNA-binding activity and also sufficient to induce transcriptional repression in a DNA-binding independent manner (By similarity). The polyhistidine repeat acts as a targeting signal to nuclear speckles (PubMed:19266028).
  • Belongs to the POU transcription factor family. Class-4 subfamily.
Domain:
  • The transcriptional activation domain within the N-terminal region is sufficient to induce transcriptional activity. The transcriptional repression domain containing the POU-specific domain and POU homeodomain is necessary for DNA-binding activity and also sufficient to induce transcriptional repression in a DNA-binding independent manner (By similarity). The polyhistidine repeat acts as a targeting signal to nuclear speckles (PubMed:19266028).
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

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Molecular function for POU4F2 Gene

GENATLAS Biochemistry:
POU domain,class 4,transcription factor 2,expressed in a subset of retinal ganglion cells
UniProtKB/Swiss-Prot Function:
DNA-binding transcriptional regulator and coregulator that recognizes and binds to the consensus octamer binding site 5-AT[A/T]A[T/A]T[A/T]A-3 in promoter of target genes (PubMed:19266028, PubMed:23805044). Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Cooperates with the transcription factor ISL1 to achieve RGC fate specification in the developing retina. Plays also a role in RGC axon formation and guidance by regulating gene expression of specific target genes. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Binds chromatin at promoter region of target genes (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 1: Acts either as a transcriptional activator or repressor (PubMed:19266028, PubMed:23805044). Negatively regulates transcriptional activity of homeobox domain transcriptional factors DLX1 and DLX2, and hence prevents DLX1- and DLX2-mediated ability to promote amacrine cells specification. Involved in the positive regulation of the transcriptional factor PAX6 expression through its binding to the neuroretina-specific enhancer in neuroretina cells. Mediates positive transcriptional regulation of heat shock protein HSPB1 expression in cardiac myocytes. Positively regulates POU4F1 expression by interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site of the POU4F1 gene promoter. Plays a role in the regulation of breast cancer cell growth by promoting transcription activation as well as repression of specific target genes. Involved in tumor breast progression and invasion (By similarity). Stimulates the promoter activity of the GTP-binding protein RIT2 gene containing the octamer binding site in retinal ganglion cells (PubMed:23805044). Plays also a role either as a transcriptional coactivator or corepressor. Transcriptional coactivator cooperating with transcription factors ISL1 and ISL2 to potentiate transcriptional activation of retinal ganglion cell (RGC) target genes. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to the octamer motif. Binds to the octamer binding site to form a ternary complex with ISL1 in promoter of target genes (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 2: Acts either as a transcriptional activator or repressor (PubMed:23805044). Stimulates the promoter activity of the neuronal nicotinic acetylcholine receptor alpha CHRNA2. Negatively regulates the apoptosis regulator BAX promoter activity. Inhibits promoter activity of the neuronal intermediate filament protein alpha-internexin INA gene. Plays a role in the regulation of breast cancer cell growth by promoting transcription activation as well as repression of specific target genes. Involved in tumor breast progression and invasion (By similarity). Inhibits the promoter activity of the GTP-binding protein RIT2 gene containing the octamer binding site in retinal ganglion cells (PubMed:23805044). Plays also a role either as transcriptional coactivator or corepressor. Transcriptional coactivator cooperating with transcription factors TP53 to potentiate transcriptional activation of BAX promoter activity, and hence increases neuronal cell apoptosis. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to the octamer motif. Acts also as a transcriptional coactivator via its interaction with the transcription factor ESR1 (By similarity).

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 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 23805044
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IDA 17637757
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS,IEA --
GO:0003677 DNA 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

miRNA for POU4F2 Gene

miRTarBase miRNAs that target POU4F2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Cell membrane.

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
plasma membrane 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for POU4F2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane 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

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 ISS --
GO:0000165 MAPK cascade IDA 21241485
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with POU4F2: view

No data available for SIGNOR curated interactions for POU4F2 Gene

Drugs & Compounds for POU4F2 Gene

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(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

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mRNA/cDNA for POU4F2 Gene

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

Unigene Clusters for POU4F2 Gene

POU class 4 homeobox 2:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for POU4F2 Gene

GeneLoc Exon Structure for
POU4F2
ECgene alternative splicing isoforms for
POU4F2

Expression for POU4F2 Gene

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

mRNA expression in normal human tissues for POU4F2 Gene
mRNA expression by GTEx for POU4F2 GenemRNA expression by BioGPS 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, PaxDb, and MOPED for POU4F2 Gene



Protein tissue co-expression partners for POU4F2 Gene

NURSA nuclear receptor signaling pathways regulating expression of POU4F2 Gene:

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 ganglion cell layer of the retina (PubMed:7691107). Expressed in breast cancer cell lines (at protein level) (PubMed:11526481). Expressed in the brain (PubMed:7691107). Expressed in breast cancer cell lines (PubMed:11526481).

Evidence on tissue expression from TISSUES for POU4F2 Gene

  • Eye(4.5)
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 33 34
  • 97.62 (n)
oppossum
(Monodelphis domestica)
 Mammalia POU4F2 34
  • 92 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia POU4F2 33 34
  • 91.58 (n)
cow
(Bos Taurus)
 Mammalia POU4F2 33 34
  • 91.18 (n)
rat
(Rattus norvegicus)
 Mammalia Pou4f2 33
  • 89.16 (n)
mouse
(Mus musculus)
 Mammalia Pou4f2 33 16 34
  • 88.59 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia POU4F2 34
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BRN3 34
  • 72 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia pou4f2 33
  • 78.49 (n)
zebrafish
(Danio rerio)
 Actinopterygii pou4f2 33 34
  • 77.55 (n)
fruit fly
(Drosophila melanogaster)
 Insecta acj6 35 34
  • 49 (a)
worm
(Caenorhabditis elegans)
 Secernentea unc-86 35 34
  • 75 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 48 (a)
 OneToMany
Species where no ortholog for POU4F2 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)
  • 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 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)

Paralogs for POU4F2 Gene

Paralogs for POU4F2 Gene

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

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

Variants for POU4F2 Gene

Sequence variations from dbSNP and Humsavar for POU4F2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000148561 -- 146,637,218(+) G/A upstream_transcript_variant
rs1000249553 -- 146,641,278(+) T/C 3_prime_UTR_variant
rs1000567213 -- 146,637,645(+) G/A upstream_transcript_variant
rs1000821601 -- 146,639,666(+) C/T intron_variant
rs1000985954 -- 146,642,673(+) G/A downstream_transcript_variant

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

(1) MalaCards diseases for POU4F2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POU4F2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  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 22 58
  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 58
  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 58
  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 58

Products for POU4F2 Gene

Sources for POU4F2 Gene

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