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Q8WW38

- FOG2_HUMAN

UniProt

Q8WW38 - FOG2_HUMAN

Protein

Zinc finger protein ZFPM2

Gene

ZFPM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 3 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2 By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri250 – 27324C2HC-type 1Add
    BLAST
    Zinc fingeri296 – 32025C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri335 – 35723C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri363 – 38523C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri548 – 57124C2HC-type 2Add
    BLAST
    Zinc fingeri687 – 71024C2HC-type 3Add
    BLAST
    Zinc fingeri854 – 87724C2HC-type 4Add
    BLAST
    Zinc fingeri1119 – 114224C2HC-type 5Add
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. nucleic acid binding transcription factor activity Source: Ensembl
    3. protein binding Source: UniProtKB
    4. RNA polymerase II transcription coactivator activity Source: BHF-UCL
    5. transcription corepressor activity Source: BHF-UCL
    6. transcription factor binding Source: BHF-UCL
    7. zinc ion binding Source: BHF-UCL

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. embryonic organ development Source: Ensembl
    3. in utero embryonic development Source: Ensembl
    4. lung development Source: Ensembl
    5. negative regulation of cell death Source: Ensembl
    6. negative regulation of fat cell differentiation Source: UniProtKB
    7. negative regulation of female gonad development Source: Ensembl
    8. negative regulation of transcription, DNA-templated Source: UniProtKB
    9. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    10. outflow tract septum morphogenesis Source: BHF-UCL
    11. positive regulation of male gonad development Source: Ensembl
    12. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    13. right ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
    14. vasculogenesis Source: Ensembl
    15. ventricular septum morphogenesis Source: BHF-UCL

    Keywords - Molecular functioni

    Activator, Repressor

    Keywords - Biological processi

    Differentiation, Gonadal differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein ZFPM2
    Alternative name(s):
    Friend of GATA protein 2
    Short name:
    FOG-2
    Short name:
    Friend of GATA 2
    Short name:
    hFOG-2
    Zinc finger protein 89B
    Zinc finger protein multitype 2
    Gene namesi
    Name:ZFPM2
    Synonyms:FOG2, ZNF89B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:16700. ZFPM2.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. nucleoplasm Source: Reactome

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301E → G in TOF; does not affect its ability to interact with GATA4. 1 Publication
    Corresponds to variant rs121908601 [ dbSNP | Ensembl ].
    VAR_017942
    Natural varianti657 – 6571S → G in TOF; slightly impairs its ability to interact with GATA4. 1 Publication
    Corresponds to variant rs28374544 [ dbSNP | Ensembl ].
    VAR_017943
    Diaphragmatic hernia 3 (DIH3) [MIM:610187]: Form of congenital diaphragmatic hernia (CDH). CDH refers to a group of congenital defects in the structural integrity of the diaphragm associated with often lethal pulmonary hypoplasia and pulmonary hypertension.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    ZFPM2 mutations have been found in patients with complete or partial gonadal dysgenesis, and are probably associated with 46,XY disorders of sex development.1 Publication

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi187500. phenotype.
    610187. phenotype.
    Orphaneti2140. Congenital diaphragmatic hernia.
    3303. Tetralogy of Fallot.
    PharmGKBiPA134947303.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11511151Zinc finger protein ZFPM2PRO_0000221043Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki324 – 324Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
    Cross-linki471 – 471Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
    Cross-linki915 – 915Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
    Cross-linki955 – 955Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)

    Post-translational modificationi

    Sumoylation reduces transcriptional repression activity.1 Publication

    Keywords - PTMi

    Isopeptide bond, Ubl conjugation

    Proteomic databases

    PaxDbiQ8WW38.
    PRIDEiQ8WW38.

    PTM databases

    PhosphoSiteiQ8WW38.

    Expressioni

    Tissue specificityi

    Widely expressed at low level.1 Publication

    Gene expression databases

    ArrayExpressiQ8WW38.
    BgeeiQ8WW38.
    CleanExiHS_ZFPM2.
    GenevestigatoriQ8WW38.

    Organism-specific databases

    HPAiHPA004094.

    Interactioni

    Subunit structurei

    Interacts with the N-terminal zinc-finger of GATA4, GATA5 and probably GATA6. Interacts with retinoid nuclear receptor RXRA when ligand bound By similarity. Interacts with corepressor CTBP2; this interaction is however not essential for corepressor activity. Able to bind GATA1 in vitro. Interacts with NR2F2 and NR2F6 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi116986. 13 interactions.
    IntActiQ8WW38. 2 interactions.
    STRINGi9606.ENSP00000384179.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WW38.
    SMRiQ8WW38. Positions 248-391, 543-575.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni829 – 8357Interaction with CTBP2Curated

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi736 – 7405Nuclear localization signalBy similarity

    Domaini

    The CCHC-type zinc fingers 1, 5, 6 and 8 directly bind to GATA-type zinc fingers. The Tyr residue adjacent to the last Cys of the CCHC-type zinc finger is essential for the interaction with GATA-type zinc fingers By similarity.By similarity

    Sequence similaritiesi

    Belongs to the FOG (Friend of GATA) family.Curated
    Contains 3 C2H2-type zinc fingers.PROSITE-ProRule annotation
    Contains 5 C2HC-type zinc fingers.Curated

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri250 – 27324C2HC-type 1Add
    BLAST
    Zinc fingeri296 – 32025C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri335 – 35723C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri363 – 38523C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri548 – 57124C2HC-type 2Add
    BLAST
    Zinc fingeri687 – 71024C2HC-type 3Add
    BLAST
    Zinc fingeri854 – 87724C2HC-type 4Add
    BLAST
    Zinc fingeri1119 – 114224C2HC-type 5Add
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG146797.
    HOGENOMiHOG000057275.
    HOVERGENiHBG048953.
    InParanoidiQ8WW38.
    KOiK17442.
    OMAiDPNKTTC.
    OrthoDBiEOG74TWXR.
    PhylomeDBiQ8WW38.
    TreeFamiTF331342.

    Family and domain databases

    Gene3Di3.30.160.60. 1 hit.
    InterProiIPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    PfamiPF00096. zf-C2H2. 1 hit.
    [Graphical view]
    SMARTiSM00355. ZnF_C2H2. 8 hits.
    [Graphical view]
    PROSITEiPS00028. ZINC_FINGER_C2H2_1. 2 hits.
    PS50157. ZINC_FINGER_C2H2_2. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8WW38-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSRRKQSKPR QIKRPLEDAI EDEEEECPSE ETDIISKGDF PLEESFSTEF     50
    GPENLSCEEV EYFCNKGDDE GIQETAESDG DTQSEKPGQP GVETDDWDGP 100
    GELEVFQKDG ERKIQSRQQL PVGTTWGPFP GKMDLNNNSL KTKAQVPMVL 150
    TAGPKWLLDV TWQGVEDNKN NCIVYSKGGQ LWCTTTKAIS EGEELIAFVV 200
    DFDSRLQAAS QMTLTEGMYP ARLLDSIQLL PQQAAMASIL PTAIVNKDIF 250
    PCKSCGIWYR SERNLQAHLM YYCSGRQREA APVSEENEDS AHQISSLCPF 300
    PQCTKSFSNA RALEMHLNSH SGVKMEEFLP PGASLKCTVC SYTADSVINF 350
    HQHLFSHLTQ AAFRCNHCHF GFQTQRELLQ HQELHVPSGK LPRESDMEHS 400
    PSATEDSLQP ATDLLTRSEL PQSQKAMQTK DASSDTELDK CEKKTQLFLT 450
    NQRPEIQPTT NKQSFSYTKI KSEPSSPRLA SSPVQPNIGP SFPVGPFLSQ 500
    FSFPQDITMV PQASEILAKM SELVHRRLRH GSSSYPPVIY SPLMPKGATC 550
    FECNITFNNL DNYLVHKKHY CSSRWQQMAK SPEFPSVSEK MPEALSPNTG 600
    QTSINLLNPA AHSADPENPL LQTSCINSST VLDLIGPNGK GHDKDFSTQT 650
    KKLSTSSNND DKINGKPVDV KNPSVPLVDG ESDPNKTTCE ACNITFSRHE 700
    TYMVHKQYYC ATRHDPPLKR SASNKVPAMQ RTMRTRKRRK MYEMCLPEQE 750
    QRPPLVQQRF LDVANLNNPC TSTQEPTEGL GECYHPRCDI FPGIVSKHLE 800
    TSLTINKCVP VSKCDTTHSS VSCLEMDVPI DLSKKCLSQS ERTTTSPKRL 850
    LDYHECTVCK ISFNKVENYL AHKQNFCPVT AHQRNDLGQL DGKVFPNPES 900
    ERNSPDVSYE RSIIKCEKNG NLKQPSPNGN LFSSHLATLQ GLKVFSEAAQ 950
    LIATKEENRH LFLPQCLYPG AIKKAKGADQ LSPYYGIKPS DYISGSLVIH 1000
    NTDIEQSRNA ENESPKGQAS SNGCAALKKD SLPLLPKNRG MVIVNGGLKQ 1050
    DERPAANPQQ ENISQNPQHE DDHKSPSWIS ENPLAANENV SPGIPSAEEQ 1100
    LSSIAKGVNG SSQAPTSGKY CRLCDIQFNN LSNFITHKKF YCSSHAAEHV 1150
    K 1151
    Length:1,151
    Mass (Da):128,159
    Last modified:February 20, 2007 - v3
    Checksum:i680E31BA1D044C35
    GO
    Isoform 2 (identifier: Q8WW38-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-132: Missing.
         247-287: KDIFPCKSCG...REAAPVSEEN → SKCSVLCSPA...FFLQKKKKKK

    Note: Sequence incomplete. No experimental confirmation available.

    Show »
    Length:1,019
    Mass (Da):113,229
    Checksum:iA4365593BE3B4476
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti198 – 1981F → L in CAB97541. 1 PublicationCurated
    Sequence conflicti939 – 9391L → P in AAD49558. (PubMed:10438528)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301E → G in TOF; does not affect its ability to interact with GATA4. 1 Publication
    Corresponds to variant rs121908601 [ dbSNP | Ensembl ].
    VAR_017942
    Natural varianti260 – 2601R → Q Probable disease-associated mutation found in a patient with a disorder of sex development; results in reduced transactivation activity on the AMH promoter; reduced interaction with GATA4. 1 Publication
    VAR_071104
    Natural varianti402 – 4021S → R Probable disease-associated mutation found in a patient with a disorder of sex development; results in reduced transactivation activity on the AMH promoter; loss of interaction with GATA4. 1 Publication
    VAR_071105
    Natural varianti403 – 4031A → G.1 Publication
    Corresponds to variant rs11993776 [ dbSNP | Ensembl ].
    VAR_024178
    Natural varianti657 – 6571S → G in TOF; slightly impairs its ability to interact with GATA4. 1 Publication
    Corresponds to variant rs28374544 [ dbSNP | Ensembl ].
    VAR_017943
    Natural varianti782 – 7821E → D.1 Publication
    Corresponds to variant rs2920048 [ dbSNP | Ensembl ].
    VAR_017944
    Natural varianti1055 – 10551A → V.
    Corresponds to variant rs16873741 [ dbSNP | Ensembl ].
    VAR_030760

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 132132Missing in isoform 2. 1 PublicationVSP_009701Add
    BLAST
    Alternative sequencei247 – 28741KDIFP…VSEEN → SKCSVLCSPALEVMGIYGRK KCLLTRNQEQTFFLQKKKKK K in isoform 2. 1 PublicationVSP_009702Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF119334 mRNA. Translation: AAD49558.1.
    BC020928 mRNA. Translation: AAH20928.1.
    BC109222 mRNA. Translation: AAI09223.1.
    AL389987 mRNA. Translation: CAB97539.1.
    AL389989 mRNA. Translation: CAB97541.1.
    CCDSiCCDS47908.1. [Q8WW38-1]
    RefSeqiNP_036214.2. NM_012082.3. [Q8WW38-1]
    UniGeneiHs.431009.

    Genome annotation databases

    EnsembliENST00000407775; ENSP00000384179; ENSG00000169946. [Q8WW38-1]
    GeneIDi23414.
    KEGGihsa:23414.
    UCSCiuc003ymd.3. human. [Q8WW38-1]

    Polymorphism databases

    DMDMi126302543.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF119334 mRNA. Translation: AAD49558.1 .
    BC020928 mRNA. Translation: AAH20928.1 .
    BC109222 mRNA. Translation: AAI09223.1 .
    AL389987 mRNA. Translation: CAB97539.1 .
    AL389989 mRNA. Translation: CAB97541.1 .
    CCDSi CCDS47908.1. [Q8WW38-1 ]
    RefSeqi NP_036214.2. NM_012082.3. [Q8WW38-1 ]
    UniGenei Hs.431009.

    3D structure databases

    ProteinModelPortali Q8WW38.
    SMRi Q8WW38. Positions 248-391, 543-575.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116986. 13 interactions.
    IntActi Q8WW38. 2 interactions.
    STRINGi 9606.ENSP00000384179.

    PTM databases

    PhosphoSitei Q8WW38.

    Polymorphism databases

    DMDMi 126302543.

    Proteomic databases

    PaxDbi Q8WW38.
    PRIDEi Q8WW38.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000407775 ; ENSP00000384179 ; ENSG00000169946 . [Q8WW38-1 ]
    GeneIDi 23414.
    KEGGi hsa:23414.
    UCSCi uc003ymd.3. human. [Q8WW38-1 ]

    Organism-specific databases

    CTDi 23414.
    GeneCardsi GC08P106400.
    HGNCi HGNC:16700. ZFPM2.
    HPAi HPA004094.
    MIMi 187500. phenotype.
    603693. gene.
    610187. phenotype.
    neXtProti NX_Q8WW38.
    Orphaneti 2140. Congenital diaphragmatic hernia.
    3303. Tetralogy of Fallot.
    PharmGKBi PA134947303.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG146797.
    HOGENOMi HOG000057275.
    HOVERGENi HBG048953.
    InParanoidi Q8WW38.
    KOi K17442.
    OMAi DPNKTTC.
    OrthoDBi EOG74TWXR.
    PhylomeDBi Q8WW38.
    TreeFami TF331342.

    Enzyme and pathway databases

    Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

    Miscellaneous databases

    ChiTaRSi ZFPM2. human.
    GeneWikii ZFPM2.
    GenomeRNAii 23414.
    NextBioi 45615.
    PROi Q8WW38.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WW38.
    Bgeei Q8WW38.
    CleanExi HS_ZFPM2.
    Genevestigatori Q8WW38.

    Family and domain databases

    Gene3Di 3.30.160.60. 1 hit.
    InterProi IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    Pfami PF00096. zf-C2H2. 1 hit.
    [Graphical view ]
    SMARTi SM00355. ZnF_C2H2. 8 hits.
    [Graphical view ]
    PROSITEi PS00028. ZINC_FINGER_C2H2_1. 2 hits.
    PS50157. ZINC_FINGER_C2H2_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "hFOG-2, a novel zinc finger protein, binds the co-repressor mCtBP2 and modulates GATA-mediated activation."
      Holmes M., Turner J., Fox A.H., Chisholm O., Crossley M., Chong B.
      J. Biol. Chem. 274:23491-23498(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH CTBP2, POSSIBLE INTERACTION WITH GATA1.
      Tissue: Erythroleukemia.
    2. "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] (ISOFORM 1).
      Tissue: Prostate.
    3. The European IMAGE consortium
      Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-287 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 641-1151 (ISOFORM 1).
    4. "SUMOylation regulates the transcriptional repression activity of FOG-2 and its association with GATA-4."
      Perdomo J., Jiang X.M., Carter D.R., Khachigian L.M., Chong B.H.
      PLoS ONE 7:E50637-E50637(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUMOYLATION AT LYS-324; LYS-471; LYS-915 AND LYS-955, SUBCELLULAR LOCATION.
    5. "Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination."
      Bashamboo A., Brauner R., Bignon-Topalovic J., Lortat-Jacob S., Karageorgou V., Lourenco D., Guffanti A., McElreavey K.
      Hum. Mol. Genet. 23:3657-3665(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH GATA4, PROBABLE INVOLVEMENT IN DISORDERS OF SEX DEVELOPMENT, VARIANTS GLN-260; ARG-402; GLY-403 AND ASP-782, CHARACTERIZATION OF VARIANTS GLN-260 AND ARG-402.
    6. Cited for: VARIANTS TOF GLY-30 AND GLY-657.
    7. Cited for: INVOLVEMENT IN DIAPHRAGMATIC HERNIA 3.

    Entry informationi

    Entry nameiFOG2_HUMAN
    AccessioniPrimary (citable) accession number: Q8WW38
    Secondary accession number(s): Q32MA6
    , Q9NPL7, Q9NPS4, Q9UNI5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 15, 2004
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 105 of the entry and version 3 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 8
      Human chromosome 8: 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