• Gene id: 9847

Gene Summary

• Gene Symbol: C2CD5   Gene   UCSC   Ensembl
• Aliases: CDP138, KIAA0528
• Gene name: C2 calcium dependent domain containing 5
• Alternate names: C2 domain-containing protein 5, 138 kDa C2 domain-containing phosphoprotein,
• Gene location: 12p12.1 (22544545: 22448545)     Exons: 33     NC_000012.12
• OMIM: 618044

SNPs

rs11857513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50497226G>A
NC_000015.10   g.50497226G>C
NC_000015.9   g.50789423G>A
NC_000015.9   g.50789423G>C
NG_047101.1   g.77850G>A
NG_047101.1   g.77850G>C
NM_001128610.2   c.3033G>A
NM_001128610.2   c.3033G>C
NM_001128610.3   c.3033G>A
NM_001128610.3   c.3033G>

Protein Summary

• Protein general information: Q86YS7  
  • Name: C2 domain containing protein 5 (C2 domain containing phosphoprotein of 138 kDa)
  • Length: 1000  
  • Mass: 110447
• Sequence:

  MPGKLKVKIVAGRHLPVMDRASDLTDAFVEVKFGNTTFKTDVYLKSLNPQWNSEWFKFEVDDEDLQDEPLQITVL
  DHDTYSANDAIGKVYIDIDPLLYSEAATVISGWFPIYDTIHGIRGEINVVVKVDLFNDLNRFRQSSCGVKFFCTT
  SIPKCYRAVIIHGFVEELVVNEDPEYQWIDRIRTPRASNEARQRLISLMSGELQRKIGLKVLEMRGNAVVGYLQC
  FDLEGESGLVVRAIGTACTLDKLSSPAAFLPACNSPSKEMKEIPFNEDPNPNTHSSGPSTPLKNQTYSFSPSKSY
  SRQSSSSDTDLSLTPKTGMGSGSAGKEGGPFKALLRQQTQSALEQREFPFFTLTAFPPGFLVHVGGVVSARSVKL
  LDRIHNPDEPETRDAWWAEIRQEIKSHAKALGCHAVVGYSESTSICEEVCILSASGTAAVLNPRFLQDGTVEGCL
  EQRLEENLPTRCGFCHIPYDELNMPFPAHLTYCYNCRKQKVPDVLFTTIDLPTDATVIGKGCLIQARLCRLKKKA
  QAEANATAISNLLPFMEYEVHTQLMNKLKLKGMNALFGLRIQITVGENMLMGLASATGVYLAALPTPGGIQIAGK
  TPNDGSYEQHISHMQKKINDTIAKNKELYEINPPEISEEIIGSPIPEPRQRSRLLRSQSESSDEVTELDLSHGKK
  DAFVLEIDDTDAMEDVHSLLTDVPPPSGFYSCNTEIMPGINNWTSEIQMFTSVRVIRLSSLNLTNQALNKNFNDL
  CENLLKSLYFKLRSMIPCCLCHVNFTVSLPEDELIQVTVTAVAITFDKNQALQTTKTPVEKSLQRASTDNEELLQ
  FPLELCSDSLPSHPFPPAKAMTVEKASPVGDGNFRNRSAPPCANSTVGVVKMTPLSFIPGAKITKYLGIINMFFI
  RETTSLREEGGVSGFLHAFIAEVFAMVRAHVAALGGNAVVSYIMKQCVFMENPNKNQAQCLINVSGDAVVFVRES
  DLEVVSSQQPTTNCQSSCTEGEVTT

• Structural information:
  • Protein Domains: (1..10-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR037785  IPR000008  IPR035892  IPR038983  
  • Prosite: PS50004
  • CDD: cd08688
  • STRING: ENSP00000443204
• Other Databases: GeneCards:  C2CD5  Malacards:  C2CD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0010828	positive regulation of glucose transmembrane transport	IBA	biological process
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0090314	positive regulation of protein targeting to membrane	IBA	biological process
GO:0065002	intracellular protein transmembrane transport	IBA	biological process
GO:0031340	positive regulation of vesicle fusion	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0032587	ruffle membrane	IDA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IDA	cellular component
GO:0005938	cell cortex	IDA	cellular component
GO:0005544	calcium-dependent phospholipid binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0010828	positive regulation of glucose transmembrane transport	ISS	biological process
GO:0090314	positive regulation of protein targeting to membrane	IMP	biological process
GO:0065002	intracellular protein transmembrane transport	IMP	biological process
GO:0038028	insulin receptor signaling pathway via phosphatidylinositol 3-kinase	ISS	biological process
GO:0031340	positive regulation of vesicle fusion	IMP	biological process
GO:0005544	calcium-dependent phospholipid binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006906	vesicle fusion	IEA	biological process
GO:0010828	positive regulation of glucose transmembrane transport	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0031340	positive regulation of vesicle fusion	IEA	biological process
GO:0038028	insulin receptor signaling pathway via phosphatidylinositol 3-kinase	IEA	biological process
GO:0046326	positive regulation of glucose import	IEA	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq