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Q6DHV5

- C2D2B_HUMAN

UniProt

Q6DHV5 - C2D2B_HUMAN

Protein

Protein CC2D2B

Gene

CC2D2B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 75 (01 Oct 2014)
      Sequence version 2 (27 Jun 2006)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein CC2D2B
    Gene namesi
    Name:CC2D2B
    Synonyms:C10orf130
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:31666. CC2D2B.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162381273.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 322322Protein CC2D2BPRO_0000244089Add
    BLAST

    Proteomic databases

    PaxDbiQ6DHV5.
    PRIDEiQ6DHV5.

    PTM databases

    PhosphoSiteiQ6DHV5.

    Expressioni

    Gene expression databases

    BgeeiQ6DHV5.
    CleanExiHS_CC2D2B.
    GenevestigatoriQ6DHV5.

    Organism-specific databases

    HPAiHPA045935.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000343747.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6DHV5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG254231.
    HOGENOMiHOG000082446.
    HOVERGENiHBG106545.
    OMAiNVQGTKI.
    PhylomeDBiQ6DHV5.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6DHV5-1) [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

    MMTEKHEDHC LKSCSGHSYI RKNWLGCIVF PFSALLQQSE FLDQTEVLQR    50
    AQIFKKNCKA MFPNRRIVTT VFNDEGIQFL VTRYIKALNP PQQLLDIFLH 100
    NSNATFDLIA RFVSLIPFVP NTPDENDGSD IWMTSEHCIS LAIGNKEEHA 150
    ILLCNFFLYF GKKALVLLGT SVLEGHVAYV VTQETNEYLL WNPSTGQCYK 200
    QFDPFCPLKS VDCLFDDRNV WFNIQQNNTP MAVFFDYSKE SFWKQLLPKN 250
    VQGTKIQSIQ VTGFPIQMPY IDVQSIIDAV YQTGIHSAEF PQTEFALAVY 300
    IHPYPNNILS VWVYLASLVQ HQ 322
    Length:322
    Mass (Da):37,073
    Last modified:June 27, 2006 - v2
    Checksum:iB375F2BA8D964585
    GO
    Isoform 2 (identifier: Q6DHV5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         260-260: Q → QPEEIIYFET...EFERILQFYW

    Note: No experimental confirmation available.

    Show »
    Length:401
    Mass (Da):46,746
    Checksum:iC8BB4456E6A63191
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti33 – 331S → P in BAG63696. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti64 – 641N → D.
    Corresponds to variant rs17383738 [ dbSNP | Ensembl ].
    VAR_050697
    Natural varianti237 – 2371Y → H.
    Corresponds to variant rs9943393 [ dbSNP | Ensembl ].
    VAR_050698
    Natural varianti322 – 3221Q → L.
    Corresponds to variant rs1336459 [ dbSNP | Ensembl ].
    VAR_050699

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei260 – 2601Q → QPEEIIYFETDKSMVEDLRN RIERTLKSKVMEWRPKHPTH WNRQCTFILRQILPKLEFGI GSFVSSEGDNEFERILQFYW in isoform 2. 1 PublicationVSP_044457

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK302377 mRNA. Translation: BAG63696.1.
    AL513355, AL356155 Genomic DNA. Translation: CAH71692.2.
    AL356155, AL513355 Genomic DNA. Translation: CAM22929.1.
    BC075861 mRNA. Translation: AAH75861.2.
    CCDSiCCDS41555.1. [Q6DHV5-1]
    CCDS53560.1. [Q6DHV5-2]
    RefSeqiNP_001001732.2. NM_001001732.3. [Q6DHV5-1]
    NP_001153219.1. NM_001159747.1. [Q6DHV5-2]
    UniGeneiHs.538374.
    Hs.652240.

    Genome annotation databases

    EnsembliENST00000344386; ENSP00000343747; ENSG00000188649. [Q6DHV5-1]
    ENST00000410012; ENSP00000386988; ENSG00000188649. [Q6DHV5-2]
    GeneIDi387707.
    KEGGihsa:387707.
    UCSCiuc001kll.3. human. [Q6DHV5-1]
    uc010qop.2. human. [Q6DHV5-2]

    Polymorphism databases

    DMDMi109821270.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK302377 mRNA. Translation: BAG63696.1 .
    AL513355 , AL356155 Genomic DNA. Translation: CAH71692.2 .
    AL356155 , AL513355 Genomic DNA. Translation: CAM22929.1 .
    BC075861 mRNA. Translation: AAH75861.2 .
    CCDSi CCDS41555.1. [Q6DHV5-1 ]
    CCDS53560.1. [Q6DHV5-2 ]
    RefSeqi NP_001001732.2. NM_001001732.3. [Q6DHV5-1 ]
    NP_001153219.1. NM_001159747.1. [Q6DHV5-2 ]
    UniGenei Hs.538374.
    Hs.652240.

    3D structure databases

    ProteinModelPortali Q6DHV5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000343747.

    PTM databases

    PhosphoSitei Q6DHV5.

    Polymorphism databases

    DMDMi 109821270.

    Proteomic databases

    PaxDbi Q6DHV5.
    PRIDEi Q6DHV5.

    Protocols and materials databases

    DNASUi 387707.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000344386 ; ENSP00000343747 ; ENSG00000188649 . [Q6DHV5-1 ]
    ENST00000410012 ; ENSP00000386988 ; ENSG00000188649 . [Q6DHV5-2 ]
    GeneIDi 387707.
    KEGGi hsa:387707.
    UCSCi uc001kll.3. human. [Q6DHV5-1 ]
    uc010qop.2. human. [Q6DHV5-2 ]

    Organism-specific databases

    CTDi 387707.
    GeneCardsi GC10P097735.
    HGNCi HGNC:31666. CC2D2B.
    HPAi HPA045935.
    neXtProti NX_Q6DHV5.
    PharmGKBi PA162381273.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG254231.
    HOGENOMi HOG000082446.
    HOVERGENi HBG106545.
    OMAi NVQGTKI.
    PhylomeDBi Q6DHV5.

    Miscellaneous databases

    GenomeRNAii 387707.
    NextBioi 101528.
    PROi Q6DHV5.

    Gene expression databases

    Bgeei Q6DHV5.
    CleanExi HS_CC2D2B.
    Genevestigatori Q6DHV5.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 2).
      Tissue: Testis.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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: Brain.

    Entry informationi

    Entry nameiC2D2B_HUMAN
    AccessioniPrimary (citable) accession number: Q6DHV5
    Secondary accession number(s): A2A3E9
    , B4DYD4, E9PCC3, Q5VUS0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 75 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 10
      Human chromosome 10: 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

    External Data

    Dasty 3