Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q12837

- PO4F2_HUMAN

UniProt

Q12837 - PO4F2_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 2 (02 Mar 2010)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:9219. POU4F2.

    Subcellular locationi

    Nucleus speckle 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nuclear speck Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB

    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.
    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

    MMMMSLNSKQ AFSMPHGGSL HVEPKYSALH STSPGSSAPI APSASSPSSS    50
    SNAGGGGGGG GGGGGGGGRS SSSSSSGSSG GGGSEAMRRA CLPTPPSNIF 100
    GGLDESLLAR AEALAAVDIV SQSKSHHHHP PHHSPFKPDA TYHTMNTIPC 150
    TSAASSSSVP ISHPSALAGT HHHHHHHHHH HHQPHQALEG ELLEHLSPGL 200
    ALGAMAGPDG AVVSTPAHAP HMATMNPMHQ AALSMAHAHG LPSHMGCMSD 250
    VDADPRDLEA FAERFKQRRI KLGVTQADVG SALANLKIPG VGSLSQSTIC 300
    RFESLTLSHN NMIALKPILQ AWLEEAEKSH REKLTKPELF NGAEKKRKRT 350
    SIAAPEKRSL EAYFAIQPRP SSEKIAAIAE KLDLKKNVVR VWFCNQRQKQ 400
    KRMKYSAGI 409
    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:
    EMBL
    GenBank
    DDBJ
    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

    GeneIDi5458.
    KEGGihsa:5458.
    UCSCiuc003ikv.3. human.

    Polymorphism databases

    DMDMi290457652.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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

    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.
    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

    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: October 1, 2014
    This is version 135 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