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Q6DHV5 (C2D2B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 72. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein CC2D2B
Gene names
Name:CC2D2B
Synonyms:C10orf130
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length322 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6DHV5-1)

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.
Isoform 2 (identifier: Q6DHV5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     260-260: Q → QPEEIIYFET...EFERILQFYW
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 322322Protein CC2D2B
PRO_0000244089

Natural variations

Alternative sequence2601Q → QPEEIIYFETDKSMVEDLRN RIERTLKSKVMEWRPKHPTH WNRQCTFILRQILPKLEFGI GSFVSSEGDNEFERILQFYW in isoform 2.
VSP_044457
Natural variant641N → D.
Corresponds to variant rs17383738 [ dbSNP | Ensembl ].
VAR_050697
Natural variant2371Y → H.
Corresponds to variant rs9943393 [ dbSNP | Ensembl ].
VAR_050698
Natural variant3221Q → L.
Corresponds to variant rs1336459 [ dbSNP | Ensembl ].
VAR_050699

Experimental info

Sequence conflict331S → P in BAG63696. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 27, 2006. Version 2.
Checksum: B375F2BA8D964585

FASTA32237,073
        10         20         30         40         50         60 
MMTEKHEDHC LKSCSGHSYI RKNWLGCIVF PFSALLQQSE FLDQTEVLQR AQIFKKNCKA 

        70         80         90        100        110        120 
MFPNRRIVTT VFNDEGIQFL VTRYIKALNP PQQLLDIFLH NSNATFDLIA RFVSLIPFVP 

       130        140        150        160        170        180 
NTPDENDGSD IWMTSEHCIS LAIGNKEEHA ILLCNFFLYF GKKALVLLGT SVLEGHVAYV 

       190        200        210        220        230        240 
VTQETNEYLL WNPSTGQCYK QFDPFCPLKS VDCLFDDRNV WFNIQQNNTP MAVFFDYSKE 

       250        260        270        280        290        300 
SFWKQLLPKN VQGTKIQSIQ VTGFPIQMPY IDVQSIIDAV YQTGIHSAEF PQTEFALAVY 

       310        320 
IHPYPNNILS VWVYLASLVQ HQ 

« Hide

Isoform 2 [UniParc].

Checksum: C8BB4456E6A63191
Show »

FASTA40146,746

References

[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK302377 mRNA. Translation: BAG63696.1.
AL513355, AL356155 Genomic DNA. Translation: CAH71692.2.
AL356155, AL513355 Genomic DNA. Translation: CAM22929.1.
BC075861 mRNA. Translation: AAH75861.2.
RefSeqNP_001001732.2. NM_001001732.3.
NP_001153219.1. NM_001159747.1.
UniGeneHs.538374.
Hs.652240.

3D structure databases

ProteinModelPortalQ6DHV5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000343747.

PTM databases

PhosphoSiteQ6DHV5.

Polymorphism databases

DMDM109821270.

Proteomic databases

PaxDbQ6DHV5.
PRIDEQ6DHV5.

Protocols and materials databases

DNASU387707.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344386; ENSP00000343747; ENSG00000188649. [Q6DHV5-1]
ENST00000410012; ENSP00000386988; ENSG00000188649. [Q6DHV5-2]
GeneID387707.
KEGGhsa:387707.
UCSCuc001kll.3. human. [Q6DHV5-1]
uc010qop.2. human. [Q6DHV5-2]

Organism-specific databases

CTD387707.
GeneCardsGC10P097735.
HGNCHGNC:31666. CC2D2B.
HPAHPA045935.
neXtProtNX_Q6DHV5.
PharmGKBPA162381273.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG254231.
HOGENOMHOG000082446.
HOVERGENHBG106545.
OMANVQGTKI.
PhylomeDBQ6DHV5.

Gene expression databases

BgeeQ6DHV5.
CleanExHS_CC2D2B.
GenevestigatorQ6DHV5.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi387707.
NextBio101528.
PROQ6DHV5.

Entry information

Entry nameC2D2B_HUMAN
AccessionPrimary (citable) accession number: Q6DHV5
Secondary accession number(s): A2A3E9 expand/collapse secondary AC list , B4DYD4, E9PCC3, Q5VUS0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: April 16, 2014
This is version 72 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM