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A6NGY1

- FRG2C_HUMAN

UniProt

A6NGY1 - FRG2C_HUMAN

Protein

Protein FRG2-like-2

Gene

FRG2C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Protein inferred from homologyi
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    • History
      Entry version 61 (01 Oct 2014)
      Sequence version 1 (24 Jul 2007)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FRG2-like-2
    Alternative name(s):
    FSHD region gene 2 protein family member C
    HSA3-FRG2
    Gene namesi
    Name:FRG2C
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:33626. FRG2C.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162388921.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 282282Protein FRG2-like-2PRO_0000300692Add
    BLAST

    Proteomic databases

    PaxDbiA6NGY1.
    PRIDEiA6NGY1.

    PTM databases

    PhosphoSiteiA6NGY1.

    Expressioni

    Gene expression databases

    ArrayExpressiA6NGY1.
    BgeeiA6NGY1.
    GenevestigatoriA6NGY1.

    Organism-specific databases

    HPAiHPA039264.
    HPA047769.

    Structurei

    3D structure databases

    ProteinModelPortaliA6NGY1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FRG2 family.Curated

    Phylogenomic databases

    eggNOGiNOG86920.
    HOGENOMiHOG000112644.
    HOVERGENiHBG106627.
    InParanoidiA6NGY1.
    OMAiISSKDIC.
    PhylomeDBiA6NGY1.
    TreeFamiTF342559.

    Family and domain databases

    InterProiIPR026245. FRG2.
    [Graphical view]
    PANTHERiPTHR31883. PTHR31883. 1 hit.
    PfamiPF15315. FRG2. 1 hit.
    [Graphical view]
    PRINTSiPR02074. PROTEINFRG2.

    Sequencei

    Sequence statusi: Complete.

    A6NGY1-1 [UniParc]FASTAAdd to Basket

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    MGKGNEDPDL HCSSIQCSTD QPPFQQISFT EKGSDEKKPF KGKGKTAFSH    50
    SSEKHTQRQA GSDPNPNKEN SEETKLKAGN STAGSEPESS SYQENCRKRK 100
    ISSKDICQDR AGNCPEEECN LTLNKKSRSS TAVHNSEIQE TCDAHHRGSS 150
    RACTGRSKRH RSRALEVQTP SLRKSLVTSV RAMSEAVYQD LAQVWAQQIH 200
    SPLTCEQLTL LTRLRGPLCA QVQTLYSMAT QAAYVFPAES WLVPATLPGP 250
    GDSALDREAH PFPGQEITEP VSGSDEAKLG AP 282
    Length:282
    Mass (Da):30,798
    Last modified:July 24, 2007 - v1
    Checksum:iA27D0A9024909236
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti12 – 121C → R.
    Corresponds to variant rs13073018 [ dbSNP | Ensembl ].
    VAR_060156
    Natural varianti210 – 2101L → M.
    Corresponds to variant rs13096122 [ dbSNP | Ensembl ].
    VAR_060157

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC108724 Genomic DNA. No translation available.
    CCDSiCCDS43108.1.
    RefSeqiNP_001118231.1. NM_001124759.1.
    UniGeneiHs.274541.

    Genome annotation databases

    EnsembliENST00000308062; ENSP00000312299; ENSG00000172969.
    GeneIDi100288801.
    KEGGihsa:100288801.
    UCSCiuc003dpt.4. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC108724 Genomic DNA. No translation available.
    CCDSi CCDS43108.1.
    RefSeqi NP_001118231.1. NM_001124759.1.
    UniGenei Hs.274541.

    3D structure databases

    ProteinModelPortali A6NGY1.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei A6NGY1.

    Proteomic databases

    PaxDbi A6NGY1.
    PRIDEi A6NGY1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308062 ; ENSP00000312299 ; ENSG00000172969 .
    GeneIDi 100288801.
    KEGGi hsa:100288801.
    UCSCi uc003dpt.4. human.

    Organism-specific databases

    CTDi 100288801.
    GeneCardsi GC03P075728.
    H-InvDB HIX0020294.
    HIX0176468.
    HGNCi HGNC:33626. FRG2C.
    HPAi HPA039264.
    HPA047769.
    neXtProti NX_A6NGY1.
    PharmGKBi PA162388921.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG86920.
    HOGENOMi HOG000112644.
    HOVERGENi HBG106627.
    InParanoidi A6NGY1.
    OMAi ISSKDIC.
    PhylomeDBi A6NGY1.
    TreeFami TF342559.

    Miscellaneous databases

    NextBioi 95412.
    PROi A6NGY1.

    Gene expression databases

    ArrayExpressi A6NGY1.
    Bgeei A6NGY1.
    Genevestigatori A6NGY1.

    Family and domain databases

    InterProi IPR026245. FRG2.
    [Graphical view ]
    PANTHERi PTHR31883. PTHR31883. 1 hit.
    Pfami PF15315. FRG2. 1 hit.
    [Graphical view ]
    PRINTSi PR02074. PROTEINFRG2.
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients."
      Rijkers T., Deidda G., van Koningsbruggen S., van Geel M., Lemmers R.J.L.F., van Deutekom J.C.T., Figlewicz D., Hewitt J.E., Padberg G.W., Frants R.R., van der Maarel S.M.
      J. Med. Genet. 41:826-836(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiFRG2C_HUMAN
    AccessioniPrimary (citable) accession number: A6NGY1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: July 24, 2007
    Last modified: October 1, 2014
    This is version 61 of the entry and version 1 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 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3