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Q9Y426 (CU025_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
C2 domain-containing protein 2
Gene names
Name:C2CD2
Synonyms:C21orf25, C21orf258
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length696 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Secreted Potential.

Sequence similarities

Contains 1 C2 domain.

Sequence caution

The sequence BAA95528.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAH10536.1 differs from that shown. Reason: Intron retention.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytosol

Inferred from direct assay PubMed 16780588. Source: UniProtKB

extracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay PubMed 16780588. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y426-1)

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: Q9Y426-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-155: Missing.
Isoform 3 (identifier: Q9Y426-3)

The sequence of this isoform differs from the canonical sequence as follows:
     521-525: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4141 Potential
Chain42 – 696655C2 domain-containing protein 2
PRO_0000045386

Regions

Domain265 – 34682C2

Amino acid modifications

Modified residue4351Phosphoserine Ref.4
Modified residue4411Phosphoserine Ref.4
Modified residue4451Phosphothreonine Ref.4

Natural variations

Alternative sequence1 – 155155Missing in isoform 2.
VSP_041071
Alternative sequence521 – 5255Missing in isoform 3.
VSP_041072
Natural variant2111V → A.
Corresponds to variant rs2839421 [ dbSNP | Ensembl ].
VAR_050928
Natural variant6181T → A.
Corresponds to variant rs9981024 [ dbSNP | Ensembl ].
VAR_050929

Experimental info

Sequence conflict4601A → T in CAH10536. Ref.2
Sequence conflict6391H → R in CAH10536. Ref.2
Sequence conflict6791S → P in CAH10536. Ref.2

Sequences

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

Last modified January 10, 2006. Version 2.
Checksum: 73F757C8608061F9

FASTA69675,533
        10         20         30         40         50         60 
MAMARLGSWL GEAQWLALVS LFVAALATVG LYLAQWALAR ARPQPQRRAV EPGEGPRPGS 

        70         80         90        100        110        120 
DALLSWILTL GSWRSQWQAA WVTALNEEAE RKGGPPFLSF EEDPRQQALE LVVQEVSSVL 

       130        140        150        160        170        180 
RSAEEKVVVC HVVGQAIQFL VSETPALGAG CRLYDMRLSP FHLQLEFHMK EKREDLQISW 

       190        200        210        220        230        240 
SFISVPEMAV NIQPKALGED QVAETSAMSD VLKDILKHLA GSASPSVVLI TKPTTVKEAQ 

       250        260        270        280        290        300 
NLQCAASTAQ ESCPPKPPRA HELKLLVRNI HVLLLSEPGA SGHINAVCVV QLNDPVQRFS 

       310        320        330        340        350        360 
STLTKNTPDL MWEEEFTFEL NAKSKELHLQ ISEAGRSSEG LLATATVPLD LFKKQPSGPQ 

       370        380        390        400        410        420 
SFTLTSGSAC GSSVLGSVTA EFSYMEPGEL KSWPIPPPVP AAKIEKDRTV MPCGTVVTTV 

       430        440        450        460        470        480 
TAVKTKPRVD VGRASPLSSD SPVKTPIKVK VIEKDISVQA IACRSAPVSK TLSSSDTELL 

       490        500        510        520        530        540 
VLNGSDPVAE VAIRQLSESS KLKLKSPRKK STIIISGISK TSLSQDHDAA LMQGYTASVD 

       550        560        570        580        590        600 
STHQEDAPSH PERAAASAPP EEAESAQASL APKPQEDELD SWDLEKEPQA AAWSSQVLLD 

       610        620        630        640        650        660 
PDGDELSESS MSVLEPGTAK KHKGGILRKG AKLFFRRRHQ QKDPGMSQSH NDLVFLEQPE 

       670        680        690 
GSRRKGITLT RILNKKLLSR HRNKNTMNGA PVEPCT 

« Hide

Isoform 2 [UniParc].

Checksum: 64DD4953464F1942
Show »

FASTA54158,613
Isoform 3 [UniParc].

Checksum: 53B21D413BF4EC76
Show »

FASTA69175,017

References

« Hide 'large scale' references
[1]"Homo sapiens mRNA for C21orf25 long form, complete cds."
Shimizu N., Kudoh J., Shibuya K.
Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Fetal brain and Pancreas.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 511-696 (ISOFORM 3).
Tissue: Cervix, Testis and Uterus.
[3]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-435; SER-441 AND THR-445, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS13677.1. [Q9Y426-2]
CCDS42933.1. [Q9Y426-1]
PIRT08793.
RefSeqNP_056315.1. NM_015500.1. [Q9Y426-1]
NP_950251.1. NM_199050.2. [Q9Y426-2]
XP_005261164.1. XM_005261107.2. [Q9Y426-2]
XP_005261166.1. XM_005261109.2. [Q9Y426-2]
UniGeneHs.473894.
Hs.675058.

3D structure databases

ProteinModelPortalQ9Y426.
SMRQ9Y426. Positions 263-385.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117454. 2 interactions.
IntActQ9Y426. 1 interaction.
STRING9606.ENSP00000369853.

PTM databases

PhosphoSiteQ9Y426.

Polymorphism databases

DMDM85681926.

Proteomic databases

MaxQBQ9Y426.
PaxDbQ9Y426.
PRIDEQ9Y426.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329623; ENSP00000329302; ENSG00000157617. [Q9Y426-2]
ENST00000380486; ENSP00000369853; ENSG00000157617. [Q9Y426-1]
GeneID25966.
KEGGhsa:25966.
UCSCuc002yzt.3. human. [Q9Y426-2]
uc002yzu.3. human. [Q9Y426-1]

Organism-specific databases

CTD25966.
GeneCardsGC21M043306.
HGNCHGNC:1266. C2CD2.
HPAHPA030922.
HPA030924.
neXtProtNX_Q9Y426.
PharmGKBPA162379018.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47970.
HOGENOMHOG000008704.
HOVERGENHBG098030.
InParanoidQ9Y426.
OMAQKDPGMS.
OrthoDBEOG73NG32.
PhylomeDBQ9Y426.
TreeFamTF331604.

Gene expression databases

BgeeQ9Y426.
CleanExHS_C2CD2.
GenevestigatorQ9Y426.

Family and domain databases

Gene3D2.60.40.150. 1 hit.
InterProIPR000008. C2_dom.
[Graphical view]
PfamPF00168. C2. 1 hit.
[Graphical view]
SMARTSM00239. C2. 1 hit.
[Graphical view]
SUPFAMSSF49562. SSF49562. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi25966.
NextBio47596.
PROQ9Y426.

Entry information

Entry nameCU025_HUMAN
AccessionPrimary (citable) accession number: Q9Y426
Secondary accession number(s): Q5R2V7, Q6AHX8, Q9NSE6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 10, 2006
Last modified: July 9, 2014
This is version 102 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

SIMILARITY comments

Index of protein domains and families

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 21

Human chromosome 21: entries, gene names and cross-references to MIM