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Q12837

- PO4F2_HUMAN

UniProt

Q12837 - PO4F2_HUMAN

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Protein

POU domain, class 4, transcription factor 2

Gene

POU4F2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transcription factor. May play a role in determining or maintaining the identities of a small subset of visual system neurons.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi345 – 40460HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: UniProtKB
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: UniProtKB
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: UniProtKB

GO - Biological processi

  1. axon extension Source: Ensembl
  2. axon guidance Source: UniProtKB
  3. intracellular estrogen receptor signaling pathway Source: UniProtKB
  4. MAPK cascade Source: UniProtKB
  5. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  6. neuromuscular process controlling balance Source: Ensembl
  7. neuron differentiation Source: UniProtKB
  8. positive regulation of cell differentiation Source: UniProtKB
  9. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  10. retina development in camera-type eye Source: UniProtKB
  11. retinal ganglion cell axon guidance Source: Ensembl
  12. sensory perception of sound Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ12837.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:POU4F2
Synonyms:BRN3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:9219. POU4F2.

Subcellular locationi

Nucleus speckle 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi171 – 18515Missing: Absent from nuclear speckle; no change in transcriptional activity. 1 PublicationAdd
BLAST

Organism-specific databases

PharmGKBiPA33543.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 409409POU domain, class 4, transcription factor 2PRO_0000100740Add
BLAST

Proteomic databases

PaxDbiQ12837.
PRIDEiQ12837.

PTM databases

PhosphoSiteiQ12837.

Expressioni

Tissue specificityi

Brain. Seems to be specific to the retina.

Gene expression databases

BgeeiQ12837.
CleanExiHS_POU4F2.
GenevestigatoriQ12837.

Interactioni

Protein-protein interaction databases

BioGridi111454. 1 interaction.
STRINGi9606.ENSP00000281321.

Structurei

3D structure databases

ProteinModelPortaliQ12837.
SMRiQ12837. Positions 254-403.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini250 – 32778POU-specificPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi110 – 11910POU-IV box

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1 – 44Poly-Met
Compositional biasi43 – 519Poly-Ser
Compositional biasi54 – 6815Poly-GlyAdd
BLAST
Compositional biasi70 – 7910Poly-Ser
Compositional biasi80 – 834Poly-Gly
Compositional biasi126 – 1294Poly-His
Compositional biasi155 – 1584Poly-Ser
Compositional biasi171 – 18212Poly-HisAdd
BLAST

Domaini

The polyhistidine repeat acts as a targeting signal to nuclear speckles.1 Publication

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 POU-specific domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG289030.
GeneTreeiENSGT00760000118935.
HOGENOMiHOG000116305.
HOVERGENiHBG031829.
InParanoidiQ12837.
KOiK09366.
OMAiPSNIFGG.
OrthoDBiEOG7RV9G7.
PhylomeDBiQ12837.
TreeFamiTF316413.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS00027. 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]

Sequencei

Sequence statusi: Complete.

Q12837-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MMMMSLNSKQ AFSMPHGGSL HVEPKYSALH STSPGSSAPI APSASSPSSS
60 70 80 90 100
SNAGGGGGGG GGGGGGGGRS SSSSSSGSSG GGGSEAMRRA CLPTPPSNIF
110 120 130 140 150
GGLDESLLAR AEALAAVDIV SQSKSHHHHP PHHSPFKPDA TYHTMNTIPC
160 170 180 190 200
TSAASSSSVP ISHPSALAGT HHHHHHHHHH HHQPHQALEG ELLEHLSPGL
210 220 230 240 250
ALGAMAGPDG AVVSTPAHAP HMATMNPMHQ AALSMAHAHG LPSHMGCMSD
260 270 280 290 300
VDADPRDLEA FAERFKQRRI KLGVTQADVG SALANLKIPG VGSLSQSTIC
310 320 330 340 350
RFESLTLSHN NMIALKPILQ AWLEEAEKSH REKLTKPELF NGAEKKRKRT
360 370 380 390 400
SIAAPEKRSL EAYFAIQPRP SSEKIAAIAE KLDLKKNVVR VWFCNQRQKQ

KRMKYSAGI
Length:409
Mass (Da):43,087
Last modified:March 2, 2010 - v2
Checksum:i42E2C174674E8DFC
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti54 – 541G → GG in AAA16509. (PubMed:7691107)Curated
Sequence conflicti54 – 541G → GG in BAG37481. (PubMed:14702039)Curated
Sequence conflicti54 – 541G → GG in AAI36345. (PubMed:14702039)Curated
Sequence conflicti54 – 541G → GG in AAI36346. (PubMed:14702039)Curated
Sequence conflicti165 – 1651S → C in AAA16509. (PubMed:7691107)Curated
Sequence conflicti182 – 1821Missing in CAA50589. (PubMed:8332509)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401I → T.
Corresponds to variant rs13152799 [ dbSNP | Ensembl ].
VAR_059321

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS34074.1.
PIRiI38502.
RefSeqiNP_004566.2. NM_004575.2.
UniGeneiHs.266.

Genome annotation databases

EnsembliENST00000281321; ENSP00000281321; ENSG00000151615.
GeneIDi5458.
KEGGihsa:5458.
UCSCiuc003ikv.3. human.

Polymorphism databases

DMDMi290457652.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS34074.1.
PIRi I38502.
RefSeqi NP_004566.2. NM_004575.2.
UniGenei Hs.266.

3D structure databases

ProteinModelPortali Q12837.
SMRi Q12837. Positions 254-403.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111454. 1 interaction.
STRINGi 9606.ENSP00000281321.

PTM databases

PhosphoSitei Q12837.

Polymorphism databases

DMDMi 290457652.

Proteomic databases

PaxDbi Q12837.
PRIDEi Q12837.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000281321 ; ENSP00000281321 ; ENSG00000151615 .
GeneIDi 5458.
KEGGi hsa:5458.
UCSCi uc003ikv.3. human.

Organism-specific databases

CTDi 5458.
GeneCardsi GC04P147560.
H-InvDB HIX0031516.
HGNCi HGNC:9219. POU4F2.
MIMi 113725. gene.
neXtProti NX_Q12837.
PharmGKBi PA33543.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289030.
GeneTreei ENSGT00760000118935.
HOGENOMi HOG000116305.
HOVERGENi HBG031829.
InParanoidi Q12837.
KOi K09366.
OMAi PSNIFGG.
OrthoDBi EOG7RV9G7.
PhylomeDBi Q12837.
TreeFami TF316413.

Enzyme and pathway databases

SignaLinki Q12837.

Miscellaneous databases

GeneWikii POU4F2.
GenomeRNAii 5458.
NextBioi 21127.
PROi Q12837.
SOURCEi Search...

Gene expression databases

Bgeei Q12837.
CleanExi HS_POU4F2.
Genevestigatori Q12837.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR000327. POU_specific.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF00157. Pou. 1 hit.
[Graphical view ]
PRINTSi PR00028. POUDOMAIN.
SMARTi SM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEi PS00027. 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.

Entry informationi

Entry nameiPO4F2_HUMAN
AccessioniPrimary (citable) accession number: Q12837
Secondary accession number(s): B1PJR6
, B2RC84, Q13883, Q14987
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: March 2, 2010
Last modified: November 26, 2014
This is version 137 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3