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Q9Y426

- CU025_HUMAN

UniProt

Q9Y426 - CU025_HUMAN

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Protein

C2 domain-containing protein 2

Gene

C2CD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:1266. C2CD2.

Subcellular locationi

Secreted Curated

GO - Cellular componenti

  1. cytosol Source: UniProtKB
  2. extracellular region Source: UniProtKB-KW
  3. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162379018.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4141Sequence AnalysisAdd
BLAST
Chaini42 – 696655C2 domain-containing protein 2PRO_0000045386Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei435 – 4351Phosphoserine1 Publication
Modified residuei441 – 4411Phosphoserine1 Publication
Modified residuei445 – 4451Phosphothreonine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9Y426.
PaxDbiQ9Y426.
PRIDEiQ9Y426.

PTM databases

PhosphoSiteiQ9Y426.

Expressioni

Gene expression databases

BgeeiQ9Y426.
CleanExiHS_C2CD2.
GenevestigatoriQ9Y426.

Organism-specific databases

HPAiHPA030922.
HPA030924.

Interactioni

Protein-protein interaction databases

BioGridi117454. 6 interactions.
IntActiQ9Y426. 1 interaction.
STRINGi9606.ENSP00000369853.

Structurei

3D structure databases

ProteinModelPortaliQ9Y426.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini265 – 34682C2Add
BLAST

Sequence similaritiesi

Contains 1 C2 domain.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG47970.
GeneTreeiENSGT00530000063764.
HOGENOMiHOG000008704.
HOVERGENiHBG098030.
InParanoidiQ9Y426.
OMAiQKDPGMS.
OrthoDBiEOG73NG32.
PhylomeDBiQ9Y426.
TreeFamiTF331604.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
[Graphical view]
PfamiPF00168. C2. 1 hit.
[Graphical view]
SMARTiSM00239. 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. Align

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 CAH10536.1 differs from that shown. Reason: Intron retention.
The sequence BAA95528.1 differs from that shown. Reason: Erroneous gene model prediction.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti460 – 4601A → T in CAH10536. (PubMed:17974005)Curated
Sequence conflicti639 – 6391H → R in CAH10536. (PubMed:17974005)Curated
Sequence conflicti679 – 6791S → P in CAH10536. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti211 – 2111V → A.
Corresponds to variant rs2839421 [ dbSNP | Ensembl ].
VAR_050928
Natural varianti618 – 6181T → A.
Corresponds to variant rs9981024 [ dbSNP | Ensembl ].
VAR_050929

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 155155Missing in isoform 2. 1 PublicationVSP_041071Add
BLAST
Alternative sequencei521 – 5255Missing in isoform 3. 1 PublicationVSP_041072

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005261164.1. XM_005261107.2. [Q9Y426-2]
XP_005261166.1. XM_005261109.2. [Q9Y426-2]
UniGeneiHs.473894.
Hs.675058.

Genome annotation databases

EnsembliENST00000329623; ENSP00000329302; ENSG00000157617. [Q9Y426-2]
ENST00000380486; ENSP00000369853; ENSG00000157617. [Q9Y426-1]
GeneIDi25966.
KEGGihsa:25966.
UCSCiuc002yzt.3. human. [Q9Y426-2]
uc002yzu.3. human. [Q9Y426-1]

Polymorphism databases

DMDMi85681926.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS13677.1. [Q9Y426-2 ]
CCDS42933.1. [Q9Y426-1 ]
PIRi T08793.
RefSeqi NP_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 ]
UniGenei Hs.473894.
Hs.675058.

3D structure databases

ProteinModelPortali Q9Y426.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117454. 6 interactions.
IntActi Q9Y426. 1 interaction.
STRINGi 9606.ENSP00000369853.

PTM databases

PhosphoSitei Q9Y426.

Polymorphism databases

DMDMi 85681926.

Proteomic databases

MaxQBi Q9Y426.
PaxDbi Q9Y426.
PRIDEi Q9Y426.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329623 ; ENSP00000329302 ; ENSG00000157617 . [Q9Y426-2 ]
ENST00000380486 ; ENSP00000369853 ; ENSG00000157617 . [Q9Y426-1 ]
GeneIDi 25966.
KEGGi hsa:25966.
UCSCi uc002yzt.3. human. [Q9Y426-2 ]
uc002yzu.3. human. [Q9Y426-1 ]

Organism-specific databases

CTDi 25966.
GeneCardsi GC21M043306.
HGNCi HGNC:1266. C2CD2.
HPAi HPA030922.
HPA030924.
neXtProti NX_Q9Y426.
PharmGKBi PA162379018.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG47970.
GeneTreei ENSGT00530000063764.
HOGENOMi HOG000008704.
HOVERGENi HBG098030.
InParanoidi Q9Y426.
OMAi QKDPGMS.
OrthoDBi EOG73NG32.
PhylomeDBi Q9Y426.
TreeFami TF331604.

Miscellaneous databases

GenomeRNAii 25966.
NextBioi 47596.
PROi Q9Y426.

Gene expression databases

Bgeei Q9Y426.
CleanExi HS_C2CD2.
Genevestigatori Q9Y426.

Family and domain databases

Gene3Di 2.60.40.150. 1 hit.
InterProi IPR000008. C2_dom.
[Graphical view ]
Pfami PF00168. C2. 1 hit.
[Graphical view ]
SMARTi SM00239. C2. 1 hit.
[Graphical view ]
SUPFAMi SSF49562. SSF49562. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-435; SER-441 AND THR-445, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

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: October 29, 2014
This is version 104 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

External Data

Dasty 3