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Protein

C2 domain-containing protein 2

Gene

C2CD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
C2 domain-containing protein 2
Gene namesi
Name:C2CD2
Synonyms:C21orf25, C21orf258
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:1266. C2CD2.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • extracellular region Source: UniProtKB-SubCell
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi25966.
OpenTargetsiENSG00000157617.
PharmGKBiPA162379018.

Polymorphism and mutation databases

BioMutaiC2CD2.
DMDMi85681926.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 41Sequence analysisAdd BLAST41
ChainiPRO_000004538642 – 696C2 domain-containing protein 2Add BLAST655

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei435PhosphoserineCombined sources1
Modified residuei441PhosphoserineCombined sources1
Modified residuei445PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y426.
PaxDbiQ9Y426.
PeptideAtlasiQ9Y426.
PRIDEiQ9Y426.

PTM databases

iPTMnetiQ9Y426.
PhosphoSitePlusiQ9Y426.

Expressioni

Gene expression databases

BgeeiENSG00000157617.
CleanExiHS_C2CD2.
ExpressionAtlasiQ9Y426. baseline and differential.
GenevisibleiQ9Y426. HS.

Organism-specific databases

HPAiHPA030922.
HPA030924.

Interactioni

Protein-protein interaction databases

BioGridi117454. 6 interactors.
IntActiQ9Y426. 1 interactor.
STRINGi9606.ENSP00000369853.

Structurei

3D structure databases

ProteinModelPortaliQ9Y426.
SMRiQ9Y426.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini265 – 346C2Add BLAST82

Sequence similaritiesi

Contains 1 C2 domain.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IGE7. Eukaryota.
ENOG4112CMM. LUCA.
GeneTreeiENSGT00530000063764.
HOGENOMiHOG000008704.
HOVERGENiHBG098030.
InParanoidiQ9Y426.
OMAiHQQKDPG.
OrthoDBiEOG091G0AMZ.
PhylomeDBiQ9Y426.
TreeFamiTF331604.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
[Graphical view]
PfamiPF00168. C2. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y426-1) [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

        10         20         30         40         50
MAMARLGSWL GEAQWLALVS LFVAALATVG LYLAQWALAR ARPQPQRRAV
60 70 80 90 100
EPGEGPRPGS DALLSWILTL GSWRSQWQAA WVTALNEEAE RKGGPPFLSF
110 120 130 140 150
EEDPRQQALE LVVQEVSSVL RSAEEKVVVC HVVGQAIQFL VSETPALGAG
160 170 180 190 200
CRLYDMRLSP FHLQLEFHMK EKREDLQISW SFISVPEMAV NIQPKALGED
210 220 230 240 250
QVAETSAMSD VLKDILKHLA GSASPSVVLI TKPTTVKEAQ NLQCAASTAQ
260 270 280 290 300
ESCPPKPPRA HELKLLVRNI HVLLLSEPGA SGHINAVCVV QLNDPVQRFS
310 320 330 340 350
STLTKNTPDL MWEEEFTFEL NAKSKELHLQ ISEAGRSSEG LLATATVPLD
360 370 380 390 400
LFKKQPSGPQ SFTLTSGSAC GSSVLGSVTA EFSYMEPGEL KSWPIPPPVP
410 420 430 440 450
AAKIEKDRTV MPCGTVVTTV TAVKTKPRVD VGRASPLSSD SPVKTPIKVK
460 470 480 490 500
VIEKDISVQA IACRSAPVSK TLSSSDTELL VLNGSDPVAE VAIRQLSESS
510 520 530 540 550
KLKLKSPRKK STIIISGISK TSLSQDHDAA LMQGYTASVD STHQEDAPSH
560 570 580 590 600
PERAAASAPP EEAESAQASL APKPQEDELD SWDLEKEPQA AAWSSQVLLD
610 620 630 640 650
PDGDELSESS MSVLEPGTAK KHKGGILRKG AKLFFRRRHQ QKDPGMSQSH
660 670 680 690
NDLVFLEQPE GSRRKGITLT RILNKKLLSR HRNKNTMNGA PVEPCT
Length:696
Mass (Da):75,533
Last modified:January 10, 2006 - v2
Checksum:i73F757C8608061F9
GO
Isoform 2 (identifier: Q9Y426-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-155: Missing.

Show »
Length:541
Mass (Da):58,613
Checksum:i64DD4953464F1942
GO
Isoform 3 (identifier: Q9Y426-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     521-525: Missing.

Note: No experimental confirmation available.
Show »
Length:691
Mass (Da):75,017
Checksum:i53B21D413BF4EC76
GO

Sequence cautioni

The sequence BAA95528 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAH10536 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti460A → T in CAH10536 (PubMed:17974005).Curated1
Sequence conflicti639H → R in CAH10536 (PubMed:17974005).Curated1
Sequence conflicti679S → P in CAH10536 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050928211V → A.Corresponds to variant rs2839421dbSNPEnsembl.1
Natural variantiVAR_050929618T → A.Corresponds to variant rs9981024dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0410711 – 155Missing in isoform 2. 1 PublicationAdd BLAST155
Alternative sequenceiVSP_041072521 – 525Missing in isoform 3. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB047784 mRNA. Translation: BAD74068.1.
AB047785 mRNA. Translation: BAD74069.1.
AL050173 mRNA. Translation: CAB43307.1.
AL833323 mRNA. No translation available.
CR627455 mRNA. Translation: CAH10536.1. Sequence problems.
AP001745 Genomic DNA. Translation: BAA95528.1. Sequence problems.
AP001619 Genomic DNA. No translation available.
CCDSiCCDS13677.1. [Q9Y426-2]
CCDS42933.1. [Q9Y426-1]
PIRiT08793.
RefSeqiNP_056315.1. NM_015500.1. [Q9Y426-1]
NP_950251.1. NM_199050.2. [Q9Y426-2]
XP_005261166.1. XM_005261109.4. [Q9Y426-2]
UniGeneiHs.473894.
Hs.675058.

Genome annotation databases

EnsembliENST00000329623; ENSP00000329302; ENSG00000157617. [Q9Y426-2]
ENST00000380486; ENSP00000369853; ENSG00000157617. [Q9Y426-1]
GeneIDi25966.
KEGGihsa:25966.
UCSCiuc002yzv.4. human. [Q9Y426-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB047784 mRNA. Translation: BAD74068.1.
AB047785 mRNA. Translation: BAD74069.1.
AL050173 mRNA. Translation: CAB43307.1.
AL833323 mRNA. No translation available.
CR627455 mRNA. Translation: CAH10536.1. Sequence problems.
AP001745 Genomic DNA. Translation: BAA95528.1. Sequence problems.
AP001619 Genomic DNA. No translation available.
CCDSiCCDS13677.1. [Q9Y426-2]
CCDS42933.1. [Q9Y426-1]
PIRiT08793.
RefSeqiNP_056315.1. NM_015500.1. [Q9Y426-1]
NP_950251.1. NM_199050.2. [Q9Y426-2]
XP_005261166.1. XM_005261109.4. [Q9Y426-2]
UniGeneiHs.473894.
Hs.675058.

3D structure databases

ProteinModelPortaliQ9Y426.
SMRiQ9Y426.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117454. 6 interactors.
IntActiQ9Y426. 1 interactor.
STRINGi9606.ENSP00000369853.

PTM databases

iPTMnetiQ9Y426.
PhosphoSitePlusiQ9Y426.

Polymorphism and mutation databases

BioMutaiC2CD2.
DMDMi85681926.

Proteomic databases

EPDiQ9Y426.
PaxDbiQ9Y426.
PeptideAtlasiQ9Y426.
PRIDEiQ9Y426.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329623; ENSP00000329302; ENSG00000157617. [Q9Y426-2]
ENST00000380486; ENSP00000369853; ENSG00000157617. [Q9Y426-1]
GeneIDi25966.
KEGGihsa:25966.
UCSCiuc002yzv.4. human. [Q9Y426-1]

Organism-specific databases

CTDi25966.
DisGeNETi25966.
GeneCardsiC2CD2.
HGNCiHGNC:1266. C2CD2.
HPAiHPA030922.
HPA030924.
neXtProtiNX_Q9Y426.
OpenTargetsiENSG00000157617.
PharmGKBiPA162379018.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGE7. Eukaryota.
ENOG4112CMM. LUCA.
GeneTreeiENSGT00530000063764.
HOGENOMiHOG000008704.
HOVERGENiHBG098030.
InParanoidiQ9Y426.
OMAiHQQKDPG.
OrthoDBiEOG091G0AMZ.
PhylomeDBiQ9Y426.
TreeFamiTF331604.

Miscellaneous databases

GenomeRNAii25966.
PROiQ9Y426.

Gene expression databases

BgeeiENSG00000157617.
CleanExiHS_C2CD2.
ExpressionAtlasiQ9Y426. baseline and differential.
GenevisibleiQ9Y426. HS.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
[Graphical view]
PfamiPF00168. C2. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCU025_HUMAN
AccessioniPrimary (citable) accession number: Q9Y426
Secondary accession number(s): Q5R2V7, Q6AHX8, Q9NSE6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 10, 2006
Last modified: November 2, 2016
This is version 121 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 21
    Human chromosome 21: 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
  4. SIMILARITY comments
    Index of protein domains and families

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.