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Q12837 (PO4F2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
POU domain, class 4, transcription factor 2
Alternative name(s):
Brain-specific homeobox/POU domain protein 3B
Short name=Brain-3B
Short name=Brn-3B
Gene names
Name:POU4F2
Synonyms:BRN3B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length409 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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 Ref.5.

Tissue specificity

Brain. Seems to be specific to the retina.

Domain

The polyhistidine repeat acts as a targeting signal to nuclear speckles (Ref.5).

Sequence similarities

Belongs to the POU transcription factor family. Class-4 subfamily.

Contains 1 homeobox DNA-binding domain.

Contains 1 POU-specific domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainHomeobox
   LigandDNA-binding
   Molecular functionActivator
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processMAPK cascade

Inferred from direct assay PubMed 21241485. Source: UniProtKB

axon extension

Inferred from electronic annotation. Source: Ensembl

axon guidance

Inferred from sequence or structural similarity. Source: UniProtKB

intracellular estrogen receptor signaling pathway

Inferred from direct assay PubMed 21241485. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: UniProtKB

neuromuscular process controlling balance

Inferred from electronic annotation. Source: Ensembl

neuron differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 21241485. Source: UniProtKB

retina development in camera-type eye

Inferred from sequence or structural similarity. Source: UniProtKB

retinal ganglion cell axon guidance

Inferred from electronic annotation. Source: Ensembl

sensory perception of sound

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnuclear speck

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionRNA polymerase II core promoter proximal region sequence-specific DNA binding

Inferred from direct assay PubMed 21241485. Source: UniProtKB

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription

Inferred from sequence or structural similarity. Source: UniProtKB

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from direct assay PubMed 21241485. Source: UniProtKB

chromatin binding

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 409409POU domain, class 4, transcription factor 2
PRO_0000100740

Regions

Domain250 – 32778POU-specific
DNA binding345 – 40460Homeobox
Motif110 – 11910POU-IV box
Compositional bias1 – 44Poly-Met
Compositional bias43 – 519Poly-Ser
Compositional bias54 – 6815Poly-Gly
Compositional bias70 – 7910Poly-Ser
Compositional bias80 – 834Poly-Gly
Compositional bias126 – 1294Poly-His
Compositional bias155 – 1584Poly-Ser
Compositional bias171 – 18212Poly-His

Natural variations

Natural variant401I → T.
Corresponds to variant rs13152799 [ dbSNP | Ensembl ].
VAR_059321

Experimental info

Mutagenesis171 – 18515Missing: Absent from nuclear speckle; no change in transcriptional activity. Ref.5
Sequence conflict541G → GG in AAA16509. Ref.1
Sequence conflict541G → GG in BAG37481. Ref.2
Sequence conflict541G → GG in AAI36345. Ref.2
Sequence conflict541G → GG in AAI36346. Ref.2
Sequence conflict1651S → C in AAA16509. Ref.1
Sequence conflict1821Missing in CAA50589. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Q12837 [UniParc].

Last modified March 2, 2010. Version 2.
Checksum: 42E2C174674E8DFC

FASTA40943,087
        10         20         30         40         50         60 
MMMMSLNSKQ AFSMPHGGSL HVEPKYSALH STSPGSSAPI APSASSPSSS SNAGGGGGGG 

        70         80         90        100        110        120 
GGGGGGGGRS SSSSSSGSSG GGGSEAMRRA CLPTPPSNIF GGLDESLLAR AEALAAVDIV 

       130        140        150        160        170        180 
SQSKSHHHHP PHHSPFKPDA TYHTMNTIPC TSAASSSSVP ISHPSALAGT HHHHHHHHHH 

       190        200        210        220        230        240 
HHQPHQALEG ELLEHLSPGL ALGAMAGPDG AVVSTPAHAP HMATMNPMHQ AALSMAHAHG 

       250        260        270        280        290        300 
LPSHMGCMSD VDADPRDLEA FAERFKQRRI KLGVTQADVG SALANLKIPG VGSLSQSTIC 

       310        320        330        340        350        360 
RFESLTLSHN NMIALKPILQ AWLEEAEKSH REKLTKPELF NGAEKKRKRT SIAAPEKRSL 

       370        380        390        400 
EAYFAIQPRP SSEKIAAIAE KLDLKKNVVR VWFCNQRQKQ KRMKYSAGI 

« Hide

References

« Hide 'large scale' references
[1]"Brn-3b: a POU domain gene expressed in a subset of retinal ganglion cells."
Xiang M., Zhou L.-J., Peng Y., Eddy R.L., Shows T.B., Nathans J.
Neuron 11:689-701(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Retina.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Testis.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Testis.
[5]"Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment."
Salichs E., Ledda A., Mularoni L., Alba M.M., de la Luna S.
PLoS Genet. 5:E1000397-E1000397(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7-409, SUBCELLULAR LOCATION, MUTAGENESIS OF 171-HIS--HIS-185.
Tissue: Testis.
[6]"The human Brn-3b POU transcription factor shows only limited homology to the Brn-3a/RDC-1 factor outside the conserved POU domain."
Ring C.J.A., Latchman D.S.
Nucleic Acids Res. 21:2946-2946(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 145-409.
Tissue: Testis.
[7]"Differential expression of four members of the POU family of proteins in activated and phorbol 12-myristate 13-acetate-treated Jurkat T cells."
Bhargava A.K., Li Z., Weissman S.M.
Proc. Natl. Acad. Sci. U.S.A. 90:10260-10264(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 274-391.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U06233 mRNA. Translation: AAA16509.1.
AK314982 mRNA. Translation: BAG37481.1.
AC093887 Genomic DNA. No translation available.
BC136344 mRNA. Translation: AAI36345.1.
BC136345 mRNA. Translation: AAI36346.1.
EU439706 mRNA. Translation: ACA49233.1.
X71488 mRNA. Translation: CAA50589.1.
L20434 mRNA. Translation: AAA36393.1.
PIRI38502.
RefSeqNP_004566.2. NM_004575.2.
UniGeneHs.266.

3D structure databases

ProteinModelPortalQ12837.
SMRQ12837. Positions 254-403.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111454. 1 interaction.
STRING9606.ENSP00000281321.

PTM databases

PhosphoSiteQ12837.

Polymorphism databases

DMDM290457652.

Proteomic databases

PaxDbQ12837.
PRIDEQ12837.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000281321; ENSP00000281321; ENSG00000151615.
GeneID5458.
KEGGhsa:5458.
UCSCuc003ikv.3. human.

Organism-specific databases

CTD5458.
GeneCardsGC04P147560.
H-InvDBHIX0031516.
HGNCHGNC:9219. POU4F2.
MIM113725. gene.
neXtProtNX_Q12837.
PharmGKBPA33543.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289030.
HOGENOMHOG000116305.
HOVERGENHBG031829.
InParanoidQ12837.
KOK09366.
OMAPSNIFGG.
OrthoDBEOG7RV9G7.
PhylomeDBQ12837.
TreeFamTF316413.

Enzyme and pathway databases

SignaLinkQ12837.

Gene expression databases

BgeeQ12837.
CleanExHS_POU4F2.
GenevestigatorQ12837.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSPR00028. POUDOMAIN.
SMARTSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPOU4F2.
GenomeRNAi5458.
NextBio21127.
PROQ12837.
SOURCESearch...

Entry information

Entry namePO4F2_HUMAN
AccessionPrimary (citable) accession number: Q12837
Secondary accession number(s): B1PJR6 expand/collapse secondary AC list , B2RC84, Q13883, Q14987
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: March 2, 2010
Last modified: April 16, 2014
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM