Human Gene POU4F2 (uc003ikv.3)
  Description: Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.
RefSeq Summary (NM_004575): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:147,560,045-147,563,623 Size: 3,579 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr4:147,560,293-147,561,960 Size: 1,668 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:147,560,045-147,563,623)mRNA (may differ from genome)Protein (409 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PO4F2_HUMAN
DESCRIPTION: RecName: Full=POU domain, class 4, transcription factor 2; AltName: Full=Brain-specific homeobox/POU domain protein 3B; Short=Brain-3B; Short=Brn-3B;
FUNCTION: Transcription factor. May play a role in determining or maintaining the identities of a small subset of visual system neurons.
SUBCELLULAR LOCATION: Nucleus speckle.
TISSUE SPECIFICITY: Brain. Seems to be specific to the retina.
DOMAIN: The polyhistidine repeat acts as a targeting signal to nuclear speckles (PubMed:19266028).
SIMILARITY: Belongs to the POU transcription factor family. Class- 4 subfamily.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SIMILARITY: Contains 1 POU-specific domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POU4F2
Diseases sorted by gene-association score: differentiating neuroblastoma (4), breast cancer (3), wilms tumor susceptibility-5 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.25 RPKM in Testis
Total median expression: 1.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -114.30248-0.461 Picture PostScript Text
3' UTR -403.151663-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR010982 - Lambda_DNA-bd_dom
IPR013847 - POU
IPR000327 - POU_specific

Pfam Domains:
PF00046 - Homeobox domain
PF00157 - Pou domain - N-terminal to homeobox domain

SCOP Domains:
47413 - lambda repressor-like DNA-binding domains
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on Q12837
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0043565 sequence-specific DNA binding
GO:1990841 promoter-specific chromatin binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000165 MAPK cascade
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006915 apoptotic process
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0007409 axonogenesis
GO:0007411 axon guidance
GO:0007605 sensory perception of sound
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0030520 intracellular estrogen receptor signaling pathway
GO:0031290 retinal ganglion cell axon guidance
GO:0043068 positive regulation of programmed cell death
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045596 negative regulation of cell differentiation
GO:0045597 positive regulation of cell differentiation
GO:0045672 positive regulation of osteoclast differentiation
GO:0045773 positive regulation of axon extension
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048675 axon extension
GO:0050885 neuromuscular process controlling balance
GO:0051090 regulation of sequence-specific DNA binding transcription factor activity
GO:0060041 retina development in camera-type eye
GO:0071345 cellular response to cytokine stimulus
GO:0071392 cellular response to estradiol stimulus
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator
GO:0090259 regulation of retinal ganglion cell axon guidance
GO:1901796 regulation of signal transduction by p53 class mediator
GO:1902870 negative regulation of amacrine cell differentiation
GO:1990791 dorsal root ganglion development
GO:2000679 positive regulation of transcription regulatory region DNA binding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  JD407352 - Sequence 388376 from Patent EP1572962.
LF212211 - JP 2014500723-A/19714: Polycomb-Associated Non-Coding RNAs.
LF208157 - JP 2014500723-A/15660: Polycomb-Associated Non-Coding RNAs.
AK314982 - Homo sapiens cDNA, FLJ95899, highly similar to Homo sapiens POU domain, class 4, transcription factor 2 (POU4F2), mRNA.
LF373081 - JP 2014500723-A/180584: Polycomb-Associated Non-Coding RNAs.
U06233 - Human POU domain protein (Brn-3b) mRNA, complete cds.
JD460545 - Sequence 441569 from Patent EP1572962.
BC136345 - Homo sapiens POU class 4 homeobox 2, mRNA (cDNA clone MGC:167955 IMAGE:9020332), complete cds.
BC136344 - Homo sapiens POU class 4 homeobox 2, mRNA (cDNA clone MGC:167954 IMAGE:9020331), complete cds.
JD444146 - Sequence 425170 from Patent EP1572962.
JD336337 - Sequence 317361 from Patent EP1572962.
EU439706 - Homo sapiens POU domain class 4 transcription factor 2 (POU4F2) mRNA, partial cds.
LF213127 - JP 2014500723-A/20630: Polycomb-Associated Non-Coding RNAs.
LF326319 - JP 2014500723-A/133822: Polycomb-Associated Non-Coding RNAs.
JC506666 - Sequence 34 from Patent EP2733220.
JC737778 - Sequence 34 from Patent WO2014075939.
JC506661 - Sequence 29 from Patent EP2733220.
JC737773 - Sequence 29 from Patent WO2014075939.
JC506688 - Sequence 56 from Patent EP2733220.
JC737800 - Sequence 56 from Patent WO2014075939.
JC506674 - Sequence 42 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC506671 - Sequence 39 from Patent EP2733220.
JC737783 - Sequence 39 from Patent WO2014075939.
LF373079 - JP 2014500723-A/180582: Polycomb-Associated Non-Coding RNAs.
X71488 - H.sapiens Brn3B mRNA.
JD364230 - Sequence 345254 from Patent EP1572962.
JD110950 - Sequence 91974 from Patent EP1572962.
L20434 - Human (clone Oct-T2) POU domain protein mRNA, partial cds.
JD140704 - Sequence 121728 from Patent EP1572962.
JD433237 - Sequence 414261 from Patent EP1572962.
JD489702 - Sequence 470726 from Patent EP1572962.
JD563296 - Sequence 544320 from Patent EP1572962.
LF373077 - JP 2014500723-A/180580: Polycomb-Associated Non-Coding RNAs.
JD309840 - Sequence 290864 from Patent EP1572962.
JD350513 - Sequence 331537 from Patent EP1572962.
JD160640 - Sequence 141664 from Patent EP1572962.
MA608658 - JP 2018138019-A/180584: Polycomb-Associated Non-Coding RNAs.
MA561896 - JP 2018138019-A/133822: Polycomb-Associated Non-Coding RNAs.
MA608656 - JP 2018138019-A/180582: Polycomb-Associated Non-Coding RNAs.
MA608654 - JP 2018138019-A/180580: Polycomb-Associated Non-Coding RNAs.
MA447788 - JP 2018138019-A/19714: Polycomb-Associated Non-Coding RNAs.
MA443734 - JP 2018138019-A/15660: Polycomb-Associated Non-Coding RNAs.
MA448704 - JP 2018138019-A/20630: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q12837 (Reactome details) participates in the following event(s):

R-HSA-6804425 TP53 binds POU4F2
R-HSA-6804759 Regulation of TP53 Activity through Association with Co-factors
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B1PJR6, B2RC84, BRN3B, NM_004575, NP_004566, PO4F2_HUMAN, Q12837, Q13883, Q14987
UCSC ID: uc003ikv.3
RefSeq Accession: NM_004575
Protein: Q12837 (aka PO4F2_HUMAN or PO42_HUMAN)
CCDS: CCDS34074.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004575.2
exon count: 2CDS single in 3' UTR: no RNA size: 3141
ORF size: 1230CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2651.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.