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Protein

Protein CC2D2B

Gene

CC2D2B

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CC2D2BCurated
Gene namesi
Name:CC2D2BImported
Synonyms:C10orf130Imported, C10orf131Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:31666. CC2D2B.

Pathology & Biotechi

Organism-specific databases

DisGeNETi387707.
OpenTargetsiENSG00000188649.
PharmGKBiPA162381273.

Polymorphism and mutation databases

BioMutaiCC2D2B.
DMDMi109821270.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002440891 – 1058Protein CC2D2BAdd BLAST1058

Proteomic databases

PaxDbiQ6DHV5.
PeptideAtlasiQ6DHV5.
PRIDEiQ6DHV5.

PTM databases

iPTMnetiQ6DHV5.
PhosphoSitePlusiQ6DHV5.

Expressioni

Gene expression databases

BgeeiENSG00000188649.
CleanExiHS_CC2D2B.
ExpressionAtlasiQ6DHV5. baseline and differential.
GenevisibleiQ6DHV5. HS.

Interactioni

Protein-protein interaction databases

BioGridi136037. 2 interactors.
STRINGi9606.ENSP00000360245.

Structurei

3D structure databases

ProteinModelPortaliQ6DHV5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3639. Eukaryota.
ENOG410XQVY. LUCA.
GeneTreeiENSGT00510000046611.
HOGENOMiHOG000082446.
HOVERGENiHBG106545.
InParanoidiQ6DHV5.
OMAiSGSHPCW.
OrthoDBiEOG091G0IID.
PhylomeDBiQ6DHV5.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 3 (identifier: Q6DHV5-3) [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

        10         20         30         40         50
MKKSQREDIF KKMSEEMDNI TAEEIIDKHL QKEENQNVAK TLRGKVREKL
60 70 80 90 100
KISKINKGEK SSTEQLIDSE IHQRSKTEVS LDESLSFFIL SGEEGSALGK
110 120 130 140 150
SSEQRPVNRS YPKCFSLGVN LQNVAESEEE EFMKEFILTD ILKVKAADYE
160 170 180 190 200
DDQEQIKKQK ANIFVPSSSP VVNQRKLPKD MMPRILEDEG FYIQRKPEIY
210 220 230 240 250
KKTCNKMENR LLKLEEGKCW FGESGEIMSL PTPIKQSWNF RLNVRKEPLN
260 270 280 290 300
PLLKTIYRKA VKYDLGSSFM NKMEGSREIY QLDLNIVGLQ FSHHHLFNQE
310 320 330 340 350
QVLCARLLQL YECFQDRQQQ NVSQLLYEKL KALTDATKLS NENSEINQLT
360 370 380 390 400
RKSLQDYYWQ ISNTKQMYDL ERGKDLSLLH SILRTWKQIK SLRHGQGFTS
410 420 430 440 450
TPIKLQVQRI KMNKCDEQEQ ISEMSETEKK NEGKELKNGK KLESLSYLAS
460 470 480 490 500
DETEIERIKP ITLRPQLSFT AELTSLSKCS FMLRNVDARS VPGIPWLMNE
510 520 530 540 550
QKLFEWANEV RIDPNNPEYS DLMESVTYMR LKGQDIPKYF RLEQLQDEFN
560 570 580 590 600
FVSEEEMAKS KRFQLLQLRN AGQLDNFLLQ QMPLHDTEIP DLVFQVRRLI
610 620 630 640 650
MKRIVKISKC NLSDIVNDYE EIVSTSQLTD AVCKFVEPRR KLKPQRKERK
660 670 680 690 700
KVTAQAISDG DIKILVRIVR AYNIPTRKTT INGSPGHDYS FSSLSKIKDN
710 720 730 740 750
IYINIFDEMM TEKHEISGTF QVTIPPVLLG YTWSNTYVFP KEDSNEQNLK
760 770 780 790 800
ECTFLNIFAT IEPQISYVTC NPTLDKFLDQ TEVLQRAQIF KKNCKAMFPN
810 820 830 840 850
RRIVTTVFND EGIQFLVTRY IKALNPPQQL LDIFLHNSNA TFDLIARFVS
860 870 880 890 900
LIPFVPNTPD ENDGSDIWMT SEHCISLAIG NKEEHAILLC NFFLYFGKKA
910 920 930 940 950
LVLLGTSVLE GHVAYVVTQE TNEYLLWNPS TGQCYKQFDP FCPLKSVDCL
960 970 980 990 1000
FDDRNVWFNI QQNNTPMAVF FDYSKESFWK QLLPKNVQGT KIQSIQVTGF
1010 1020 1030 1040 1050
PIQMPYIDVQ SIIDAVYQTG IHSAEFPQTE FALAVYIHPY PNNILSVWVY

LASLVQHQ
Length:1,058
Mass (Da):122,955
Last modified:May 10, 2017 - v3
Checksum:i97DEEFD9EFFC21C8
GO
Isoform 1 (identifier: Q6DHV5-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-736: Missing.
     737-776: YVFPKEDSNE...YVTCNPTLDK → MMTEKHEDHC...PFSALLQQSE

Show »
Length:322
Mass (Da):37,073
Checksum:iB375F2BA8D964585
GO
Isoform 2 (identifier: Q6DHV5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-736: Missing.
     737-776: YVFPKEDSNE...YVTCNPTLDK → MMTEKHEDHC...PFSALLQQSE
     996-996: Q → QPEEIIYFET...EFERILQFYW

Note: No experimental confirmation available.
Show »
Length:401
Mass (Da):46,746
Checksum:iC8BB4456E6A63191
GO
Isoform 4 (identifier: Q6DHV5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MKKSQREDIFKK → MGVQ
     32-32: K → KDLDA
     76-76: K → KLSPQ
     171-176: VVNQRK → GNILSQ
     177-1058: Missing.

Show »
Length:176
Mass (Da):19,808
Checksum:i9765C52C1E321CD2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q6DHV5-2)
Sequence conflicti33S → P in BAG57652 (PubMed:14702039).1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050697800N → D. Corresponds to variant dbSNP:rs17383738Ensembl.1
Natural variantiVAR_050698973Y → H. Corresponds to variant dbSNP:rs9943393Ensembl.1
Natural variantiVAR_0506991058Q → L. Corresponds to variant dbSNP:rs1336459Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0589341 – 736Missing in isoform 1 and isoform 2. Add BLAST736
Alternative sequenceiVSP_0589291 – 12MKKSQ…DIFKK → MGVQ in isoform 4. Add BLAST12
Alternative sequenceiVSP_05893032K → KDLDA in isoform 4. 1
Alternative sequenceiVSP_05893176K → KLSPQ in isoform 4. 1
Alternative sequenceiVSP_058932171 – 176VVNQRK → GNILSQ in isoform 4. 6
Alternative sequenceiVSP_058933177 – 1058Missing in isoform 4. Add BLAST882
Alternative sequenceiVSP_058935737 – 776YVFPK…PTLDK → MMTEKHEDHCLKSCSGHSYI RKNWLGCIVFPFSALLQQSE in isoform 1 and isoform 2. Add BLAST40
Alternative sequenceiVSP_044457996Q → QPEEIIYFETDKSMVEDLRN RIERTLKSKVMEWRPKHPTH WNRQCTFILRQILPKLEFGI GSFVSSEGDNEFERILQFYW in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK294399 mRNA. Translation: BAG57652.1.
AK302377 mRNA. Translation: BAG63696.1.
AL356155 Genomic DNA. No translation available.
AL365273 Genomic DNA. No translation available.
AL513355 Genomic DNA. No translation available.
BC075861 mRNA. Translation: AAH75861.2.
CCDSiCCDS41555.1. [Q6DHV5-1]
CCDS53560.1. [Q6DHV5-2]
CCDS58090.1. [Q6DHV5-4]
RefSeqiNP_001001732.2. NM_001001732.3. [Q6DHV5-1]
NP_001123918.2. NM_001130446.2. [Q6DHV5-4]
NP_001153219.1. NM_001159747.1. [Q6DHV5-2]
XP_011538097.1. XM_011539795.2. [Q6DHV5-2]
UniGeneiHs.538374.
Hs.652240.

Genome annotation databases

EnsembliENST00000344386; ENSP00000343747; ENSG00000188649. [Q6DHV5-1]
ENST00000410012; ENSP00000386988; ENSG00000188649. [Q6DHV5-2]
ENST00000423344; ENSP00000411850; ENSG00000188649. [Q6DHV5-4]
ENST00000636965; ENSP00000490447; ENSG00000188649. [Q6DHV5-3]
GeneIDi387707.
KEGGihsa:387707.
UCSCiuc001kll.4. human. [Q6DHV5-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiC2D2B_HUMAN
AccessioniPrimary (citable) accession number: Q6DHV5
Secondary accession number(s): A0A1B0GVB6
, A2A3E9, A6NCD4, B1AMZ2, B4DG41, B4DYD4, E9PCC3, Q5VUS0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: May 10, 2017
Last modified: July 5, 2017
This is version 94 of the entry and version 3 of the sequence. See 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