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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

EuPathDBiHostDB:ENSG00000157617.16.
HGNCiHGNC:1266. C2CD2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei13 – 33HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000157617.
PharmGKBiPA162379018.

Polymorphism and mutation databases

BioMutaiC2CD2.
DMDMi85681926.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000453861 – 696C2 domain-containing protein 2Add BLAST696

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei60PhosphoserineBy similarity1
Modified residuei435PhosphoserineCombined sources1
Modified residuei441PhosphoserineCombined sources1
Modified residuei445PhosphothreonineCombined sources1
Modified residuei581PhosphoserineBy similarity1

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
Domaini51 – 242SMP-LBDCuratedAdd BLAST192
Domaini270 – 362C2PROSITE-ProRule annotationAdd BLAST93

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiView protein in InterPro
IPR000008. C2_dom.
IPR035892. C2_domain_sf.
PfamiView protein in Pfam
PF00168. C2. 1 hit.
SUPFAMiSSF49562. SSF49562. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

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

Q9Y426: The sequence BAA95528 differs from that shown. Reason: Erroneous gene model prediction.Curated
Q9Y426: 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 dbSNP:rs2839421Ensembl.1
Natural variantiVAR_050929618T → A. Corresponds to variant dbSNP:rs9981024Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiC2CD2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y426
Secondary accession number(s): Q5R2V7, Q6AHX8, Q9NSE6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 10, 2006
Last modified: October 25, 2017
This is version 129 of the entry and version 2 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 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