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O60548

- FOXD2_HUMAN

UniProt

O60548 - FOXD2_HUMAN

Protein

Forkhead box protein D2

Gene

FOXD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (26 Feb 2008)
      Previous versions | rss
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    Functioni

    Probable transcription factor involved in embryogenesis and somatogenesis.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi126 – 21792Fork-headPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Forkhead box protein D2
    Alternative name(s):
    Forkhead-related protein FKHL17
    Forkhead-related transcription factor 9
    Short name:
    FREAC-9
    Gene namesi
    Name:FOXD2
    Synonyms:FKHL17, FREAC9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:3803. FOXD2.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28220.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 495495Forkhead box protein D2PRO_0000091815Add
    BLAST

    Proteomic databases

    PaxDbiO60548.
    PRIDEiO60548.

    PTM databases

    PhosphoSiteiO60548.

    Expressioni

    Tissue specificityi

    Kidney specific.1 Publication

    Gene expression databases

    BgeeiO60548.
    CleanExiHS_FOXD2.
    GenevestigatoriO60548.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000335493.

    Structurei

    3D structure databases

    ProteinModelPortaliO60548.
    SMRiO60548. Positions 126-222.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi227 – 353127Pro-richAdd
    BLAST
    Compositional biasi247 – 464218Ala-richAdd
    BLAST
    Compositional biasi342 – 447106Gly-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 fork-head DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5025.
    HOGENOMiHOG000231285.
    InParanoidiO60548.
    KOiK09397.
    OMAiCEIMSSE.
    OrthoDBiEOG7C8GHD.
    PhylomeDBiO60548.
    TreeFamiTF316127.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    InterProiIPR001766. TF_fork_head.
    IPR018122. TF_fork_head_CS.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF00250. Fork_head. 1 hit.
    [Graphical view]
    PRINTSiPR00053. FORKHEAD.
    SMARTiSM00339. FH. 1 hit.
    [Graphical view]
    PROSITEiPS00657. FORK_HEAD_1. 1 hit.
    PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O60548-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTLGSCCCEI MSSESSPAAL SEADADIDVV GGGSGGGELP ARSGPRAPRD    50
    VLPHGHEPPA EEAEADLAED EEESGGCSDG EPRALASRGA AAAAGSPGPG 100
    AAAARGAAGP GPGPPSGGAA TRSPLVKPPY SYIALITMAI LQSPKKRLTL 150
    SEICEFISGR FPYYREKFPA WQNSIRHNLS LNDCFVKIPR EPGNPGKGNY 200
    WTLDPESADM FDNGSFLRRR KRFKRQPLPP PHPHPHPHPE LLLRGGAAAA 250
    GDPGAFLPGF AAYGAYGYGY GLALPAYGAP PPGPAPHPHP HPHAFAFAAA 300
    AAAAPCQLSV PPGRAAAPPP GPPTASVFAG AGSAPAPAPA SGSGPGPGPA 350
    GLPAFLGAEL GCAKAFYAAS LSPPAAGTAA GLPTALLRQG LKTDAGGGAG 400
    GGGAGAGQRP SFSIDHIMGH GGGGAAPPGA GEGSPGPPFA AAAGPGGQAQ 450
    VLAMLTAPAL APVAGHIRLS HPGDALLSSG SRFASKVAGL SGCHF 495
    Length:495
    Mass (Da):48,748
    Last modified:February 26, 2008 - v2
    Checksum:iE905950E1FA94565
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti293 – 2931H → HPH in AAC15421. (PubMed:9403061)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti368 – 3681A → P.1 Publication
    Corresponds to variant rs2405913 [ dbSNP | Ensembl ].
    VAR_061185

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF042832 mRNA. Translation: AAC15421.1.
    AL607122 Genomic DNA. Translation: CAI14974.1.
    CCDSiCCDS30708.1.
    RefSeqiNP_004465.3. NM_004474.3.
    UniGeneiHs.166188.

    Genome annotation databases

    EnsembliENST00000334793; ENSP00000335493; ENSG00000186564.
    GeneIDi2306.
    KEGGihsa:2306.
    UCSCiuc001crm.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF042832 mRNA. Translation: AAC15421.1 .
    AL607122 Genomic DNA. Translation: CAI14974.1 .
    CCDSi CCDS30708.1.
    RefSeqi NP_004465.3. NM_004474.3.
    UniGenei Hs.166188.

    3D structure databases

    ProteinModelPortali O60548.
    SMRi O60548. Positions 126-222.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000335493.

    PTM databases

    PhosphoSitei O60548.

    Proteomic databases

    PaxDbi O60548.
    PRIDEi O60548.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000334793 ; ENSP00000335493 ; ENSG00000186564 .
    GeneIDi 2306.
    KEGGi hsa:2306.
    UCSCi uc001crm.3. human.

    Organism-specific databases

    CTDi 2306.
    GeneCardsi GC01P047901.
    HGNCi HGNC:3803. FOXD2.
    MIMi 602211. gene.
    neXtProti NX_O60548.
    PharmGKBi PA28220.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5025.
    HOGENOMi HOG000231285.
    InParanoidi O60548.
    KOi K09397.
    OMAi CEIMSSE.
    OrthoDBi EOG7C8GHD.
    PhylomeDBi O60548.
    TreeFami TF316127.

    Miscellaneous databases

    GenomeRNAii 2306.
    NextBioi 9367.
    PROi O60548.
    SOURCEi Search...

    Gene expression databases

    Bgeei O60548.
    CleanExi HS_FOXD2.
    Genevestigatori O60548.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    InterProi IPR001766. TF_fork_head.
    IPR018122. TF_fork_head_CS.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF00250. Fork_head. 1 hit.
    [Graphical view ]
    PRINTSi PR00053. FORKHEAD.
    SMARTi SM00339. FH. 1 hit.
    [Graphical view ]
    PROSITEi PS00657. FORK_HEAD_1. 1 hit.
    PS00658. FORK_HEAD_2. 1 hit.
    PS50039. FORK_HEAD_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of freac-9 (FKHL17), a novel kidney-expressed human forkhead gene that maps to chromosome 1p32-p34."
      Ernstsson S., Betz R., Lagercrantz S., Larsson C., Ericksson S., Cederberg A., Carlsson P., Enerbaeck S.
      Genomics 46:78-85(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT PRO-368.
    2. Enerbaeck S.
      Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiFOXD2_HUMAN
    AccessioniPrimary (citable) accession number: O60548
    Secondary accession number(s): Q5SVZ3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: February 26, 2008
    Last modified: October 1, 2014
    This is version 113 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 1
      Human chromosome 1: 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