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Q9Y426

- CU025_HUMAN

UniProt

Q9Y426 - CU025_HUMAN

Protein

C2 domain-containing protein 2

Gene

C2CD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 2 (10 Jan 2006)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    C2 domain-containing protein 2
    Gene namesi
    Name:C2CD2
    Synonyms:C21orf25, C21orf258
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:1266. C2CD2.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. extracellular region Source: UniProtKB-SubCell
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162379018.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 4141Sequence AnalysisAdd
    BLAST
    Chaini42 – 696655C2 domain-containing protein 2PRO_0000045386Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei435 – 4351Phosphoserine1 Publication
    Modified residuei441 – 4411Phosphoserine1 Publication
    Modified residuei445 – 4451Phosphothreonine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9Y426.
    PaxDbiQ9Y426.
    PRIDEiQ9Y426.

    PTM databases

    PhosphoSiteiQ9Y426.

    Expressioni

    Gene expression databases

    BgeeiQ9Y426.
    CleanExiHS_C2CD2.
    GenevestigatoriQ9Y426.

    Organism-specific databases

    HPAiHPA030922.
    HPA030924.

    Interactioni

    Protein-protein interaction databases

    BioGridi117454. 2 interactions.
    IntActiQ9Y426. 1 interaction.
    STRINGi9606.ENSP00000369853.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y426.
    SMRiQ9Y426. Positions 263-385.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini265 – 34682C2Add
    BLAST

    Sequence similaritiesi

    Contains 1 C2 domain.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG47970.
    HOGENOMiHOG000008704.
    HOVERGENiHBG098030.
    InParanoidiQ9Y426.
    OMAiQKDPGMS.
    OrthoDBiEOG73NG32.
    PhylomeDBiQ9Y426.
    TreeFamiTF331604.

    Family and domain databases

    Gene3Di2.60.40.150. 1 hit.
    InterProiIPR000008. C2_dom.
    [Graphical view]
    PfamiPF00168. C2. 1 hit.
    [Graphical view]
    SMARTiSM00239. C2. 1 hit.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y426-1) [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

    MAMARLGSWL GEAQWLALVS LFVAALATVG LYLAQWALAR ARPQPQRRAV    50
    EPGEGPRPGS DALLSWILTL GSWRSQWQAA WVTALNEEAE RKGGPPFLSF 100
    EEDPRQQALE LVVQEVSSVL RSAEEKVVVC HVVGQAIQFL VSETPALGAG 150
    CRLYDMRLSP FHLQLEFHMK EKREDLQISW SFISVPEMAV NIQPKALGED 200
    QVAETSAMSD VLKDILKHLA GSASPSVVLI TKPTTVKEAQ NLQCAASTAQ 250
    ESCPPKPPRA HELKLLVRNI HVLLLSEPGA SGHINAVCVV QLNDPVQRFS 300
    STLTKNTPDL MWEEEFTFEL NAKSKELHLQ ISEAGRSSEG LLATATVPLD 350
    LFKKQPSGPQ SFTLTSGSAC GSSVLGSVTA EFSYMEPGEL KSWPIPPPVP 400
    AAKIEKDRTV MPCGTVVTTV TAVKTKPRVD VGRASPLSSD SPVKTPIKVK 450
    VIEKDISVQA IACRSAPVSK TLSSSDTELL VLNGSDPVAE VAIRQLSESS 500
    KLKLKSPRKK STIIISGISK TSLSQDHDAA LMQGYTASVD STHQEDAPSH 550
    PERAAASAPP EEAESAQASL APKPQEDELD SWDLEKEPQA AAWSSQVLLD 600
    PDGDELSESS MSVLEPGTAK KHKGGILRKG AKLFFRRRHQ QKDPGMSQSH 650
    NDLVFLEQPE GSRRKGITLT RILNKKLLSR HRNKNTMNGA PVEPCT 696
    Length:696
    Mass (Da):75,533
    Last modified:January 10, 2006 - v2
    Checksum:i73F757C8608061F9
    GO
    Isoform 2 (identifier: Q9Y426-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-155: Missing.

    Show »
    Length:541
    Mass (Da):58,613
    Checksum:i64DD4953464F1942
    GO
    Isoform 3 (identifier: Q9Y426-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         521-525: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:691
    Mass (Da):75,017
    Checksum:i53B21D413BF4EC76
    GO

    Sequence cautioni

    The sequence CAH10536.1 differs from that shown. Reason: Intron retention.
    The sequence BAA95528.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti460 – 4601A → T in CAH10536. (PubMed:17974005)Curated
    Sequence conflicti639 – 6391H → R in CAH10536. (PubMed:17974005)Curated
    Sequence conflicti679 – 6791S → P in CAH10536. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti211 – 2111V → A.
    Corresponds to variant rs2839421 [ dbSNP | Ensembl ].
    VAR_050928
    Natural varianti618 – 6181T → A.
    Corresponds to variant rs9981024 [ dbSNP | Ensembl ].
    VAR_050929

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 155155Missing in isoform 2. 1 PublicationVSP_041071Add
    BLAST
    Alternative sequencei521 – 5255Missing in isoform 3. 1 PublicationVSP_041072

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB047784 mRNA. Translation: BAD74068.1.
    AB047785 mRNA. Translation: BAD74069.1.
    AL050173 mRNA. Translation: CAB43307.1.
    AL833323 mRNA. No translation available.
    CR627455 mRNA. Translation: CAH10536.1. Sequence problems.
    AP001745 Genomic DNA. Translation: BAA95528.1. Sequence problems.
    AP001619 Genomic DNA. No translation available.
    CCDSiCCDS13677.1. [Q9Y426-2]
    CCDS42933.1. [Q9Y426-1]
    PIRiT08793.
    RefSeqiNP_056315.1. NM_015500.1. [Q9Y426-1]
    NP_950251.1. NM_199050.2. [Q9Y426-2]
    XP_005261164.1. XM_005261107.2. [Q9Y426-2]
    XP_005261166.1. XM_005261109.2. [Q9Y426-2]
    UniGeneiHs.473894.
    Hs.675058.

    Genome annotation databases

    EnsembliENST00000329623; ENSP00000329302; ENSG00000157617. [Q9Y426-2]
    ENST00000380486; ENSP00000369853; ENSG00000157617. [Q9Y426-1]
    GeneIDi25966.
    KEGGihsa:25966.
    UCSCiuc002yzt.3. human. [Q9Y426-2]
    uc002yzu.3. human. [Q9Y426-1]

    Polymorphism databases

    DMDMi85681926.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB047784 mRNA. Translation: BAD74068.1 .
    AB047785 mRNA. Translation: BAD74069.1 .
    AL050173 mRNA. Translation: CAB43307.1 .
    AL833323 mRNA. No translation available.
    CR627455 mRNA. Translation: CAH10536.1 . Sequence problems.
    AP001745 Genomic DNA. Translation: BAA95528.1 . Sequence problems.
    AP001619 Genomic DNA. No translation available.
    CCDSi CCDS13677.1. [Q9Y426-2 ]
    CCDS42933.1. [Q9Y426-1 ]
    PIRi T08793.
    RefSeqi NP_056315.1. NM_015500.1. [Q9Y426-1 ]
    NP_950251.1. NM_199050.2. [Q9Y426-2 ]
    XP_005261164.1. XM_005261107.2. [Q9Y426-2 ]
    XP_005261166.1. XM_005261109.2. [Q9Y426-2 ]
    UniGenei Hs.473894.
    Hs.675058.

    3D structure databases

    ProteinModelPortali Q9Y426.
    SMRi Q9Y426. Positions 263-385.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117454. 2 interactions.
    IntActi Q9Y426. 1 interaction.
    STRINGi 9606.ENSP00000369853.

    PTM databases

    PhosphoSitei Q9Y426.

    Polymorphism databases

    DMDMi 85681926.

    Proteomic databases

    MaxQBi Q9Y426.
    PaxDbi Q9Y426.
    PRIDEi Q9Y426.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329623 ; ENSP00000329302 ; ENSG00000157617 . [Q9Y426-2 ]
    ENST00000380486 ; ENSP00000369853 ; ENSG00000157617 . [Q9Y426-1 ]
    GeneIDi 25966.
    KEGGi hsa:25966.
    UCSCi uc002yzt.3. human. [Q9Y426-2 ]
    uc002yzu.3. human. [Q9Y426-1 ]

    Organism-specific databases

    CTDi 25966.
    GeneCardsi GC21M043306.
    HGNCi HGNC:1266. C2CD2.
    HPAi HPA030922.
    HPA030924.
    neXtProti NX_Q9Y426.
    PharmGKBi PA162379018.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG47970.
    HOGENOMi HOG000008704.
    HOVERGENi HBG098030.
    InParanoidi Q9Y426.
    OMAi QKDPGMS.
    OrthoDBi EOG73NG32.
    PhylomeDBi Q9Y426.
    TreeFami TF331604.

    Miscellaneous databases

    GenomeRNAii 25966.
    NextBioi 47596.
    PROi Q9Y426.

    Gene expression databases

    Bgeei Q9Y426.
    CleanExi HS_C2CD2.
    Genevestigatori Q9Y426.

    Family and domain databases

    Gene3Di 2.60.40.150. 1 hit.
    InterProi IPR000008. C2_dom.
    [Graphical view ]
    Pfami PF00168. C2. 1 hit.
    [Graphical view ]
    SMARTi SM00239. C2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Homo sapiens mRNA for C21orf25 long form, complete cds."
      Shimizu N., Kudoh J., Shibuya K.
      Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fetal brain and Pancreas.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 511-696 (ISOFORM 3).
      Tissue: Cervix, Testis and Uterus.
    3. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-435; SER-441 AND THR-445, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiCU025_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y426
    Secondary accession number(s): Q5R2V7, Q6AHX8, Q9NSE6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: January 10, 2006
    Last modified: October 1, 2014
    This is version 103 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 21
      Human chromosome 21: 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