• Gene id: 27132

Gene Summary

• Gene Symbol: CPNE7   Gene   UCSC   Ensembl
• Gene name: copine 7
• Alternate names: copine-7, copine VII,
• Gene location: 16q24.3 (89575757: 89597245)     Exons: 19     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane
• OMIM: 612689

Protein Summary

• Protein general information: Q9UBL6  
  • Name: Copine 7 (Copine VII)
  • Length: 633  
  • Mass: 70294
  • Tissue specificity: Expressed in the brain, testis, thymus and small intestine (PubMed
• Sequence:

  MSAGSERGAAATPGGLPAPCASKVELRLSCRHLLDRDPLTKSDPSVALLQQAQGQWVQVGRTEVVRSSLHPVFSK
  VFTVDYYFEEVQRLRFEVYDTHGPSGFSCQEDDFLGGMECTLGQPAQKWLLQVVMRVSVDVLGPAGHCAKHFLCC
  TESSHLARTGPSFLLRYDDLCLPWATAGAVRWWTCRGGHTQGWQIVAQKKVTRPLLLKFGRNAGKSTITVIAEDI
  SGNNGYVELSFRARKLDDKDLFSKSDPFLELYRVNDDQGLQLVYRTEVVKNNLNPVWEAFKVSLSSLCSCEETRP
  LKCLVWDYDSRGKHDFIGEFSTTFEEMQKAFEEGQAQWDCVNPKYKQKRRSYKNSGVVVLADLKFHRVYSFLDYI
  MGGCQIHFTVAIDFTASNGDPRNSCSLHYINPYQPNEYLKALVSVGEICQDYDSDKRFSALGFGARIPPKYEVSH
  DFAINFNPEDDECEGIQGVVEAYQNCLPRVQLYGPTNVAPIISKVARVAAAEESTGKASQYYILLILTDGVVTDM
  ADTREAIVRASRLPMSIIIVGVGNADFTDMQVLDGDDGVLRSPRGEPALRDIVQFVPFRELKNASPAALAKCVLA
  EVPKQVVEYYSHRGLPPRSLGVPAGEASPGCTP

• Structural information:
  • Protein Domains: (2..13-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (212..33-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (382..58-)
    (/note="VWFA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR000008  IPR035892  IPR037768  IPR010734  IPR002035   IPR036465  
  • Prosite: PS50004 PS50234
  • CDD: cd04047 cd01459
  • STRING: ENSP00000268720
• Other Databases: GeneCards:  CPNE7  Malacards:  CPNE7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0005544	calcium-dependent phospholipid binding	IBA	molecular function
GO:0071277	cellular response to calcium ion	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005215	transporter activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0046474	glycerophospholipid biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq