Q6DHV5 (C2D2B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein CC2D2B

Gene names

Name:	CC2D2B
Synonyms:	C10orf130

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	322 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 322	322	Protein CC2D2B		PRO_0000244089
Natural variations
	Alternative sequence	260	1	Q → QPEEIIYFETDKSMVEDLRN RIERTLKSKVMEWRPKHPTH WNRQCTFILRQILPKLEFGI GSFVSSEGDNEFERILQFYW in isoform 2.		VSP_044457
	Natural variant	64	1	N → D. Corresponds to variant rs17383738 [ dbSNP | Ensembl ].		VAR_050697
	Natural variant	237	1	Y → H. Corresponds to variant rs9943393 [ dbSNP | Ensembl ].		VAR_050698
	Natural variant	322	1	Q → L. Corresponds to variant rs1336459 [ dbSNP | Ensembl ].		VAR_050699
Experimental info
	Sequence conflict	33	1	S → P in BAG63696. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 27, 2006. Version 2. Checksum: B375F2BA8D964585	FASTA	322	37,073
	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
	Isoform 2 [UniParc]. Checksum: C8BB4456E6A63191	FASTA	401	46,746
	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 PEEIIYFETD KSMVEDLRNR IERTLKSKVM EWRPKHPTHW 310 320 330 340 350 360 NRQCTFILRQ ILPKLEFGIG SFVSSEGDNE FERILQFYWV TGFPIQMPYI DVQSIIDAVY 370 380 390 400 QTGIHSAEFP QTEFALAVYI HPYPNNILSV WVYLASLVQH Q

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. , 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.
+	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.
IPI	IPI00480155. IPI00909452.
RefSeq	NP_001001732.2. NM_001001732.3. NP_001153219.1. NM_001159747.1.
UniGene	Hs.538374. Hs.652240.
3D structure databases
ProteinModelPortal	Q6DHV5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000343747.
PTM databases
PhosphoSite	Q6DHV5.
Polymorphism databases
DMDM	109821270.
Proteomic databases
PaxDb	Q6DHV5.
PRIDE	Q6DHV5.
Protocols and materials databases
DNASU	387707.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000344386; ENSP00000343747; ENSG00000188649. ENST00000451649; ENSP00000411217; ENSG00000188649.
GeneID	387707.
KEGG	hsa:387707.
UCSC	uc001kll.3. human.
Organism-specific databases
CTD	387707.
GeneCards	GC10P097709.
HGNC	HGNC:31666. CC2D2B.
HPA	HPA045935.
neXtProt	NX_Q6DHV5.
PharmGKB	PA162381273.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG254231.
HOGENOM	HOG000082446.
HOVERGEN	HBG106545.
OMA	ENVWFNI.
Gene expression databases
ArrayExpress	Q6DHV5.
Bgee	Q6DHV5.
CleanEx	HS_CC2D2B.
Genevestigator	Q6DHV5.
GermOnline	ENSG00000188649. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	101528.

Entry information

Entry name

C2D2B_HUMAN

Accession

Primary (citable) accession number: Q6DHV5
Secondary accession number(s): A2A3E9 , B4DYD4, E9PCC3, Q5VUS0

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	June 27, 2006
Last modified:	April 3, 2013
This is version 65 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.