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Q6DHV5

- C2D2B_HUMAN

UniProt

Q6DHV5 - C2D2B_HUMAN

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Protein

Protein CC2D2B

Gene
CC2D2B, C10orf130
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5 - Experimental evidence at transcript leveli

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.

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.

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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

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. VSP_044457

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 331S → P in BAG63696. 1 Publication

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: July 9, 2014
This is version 74 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