• Gene id: 55784

Gene Summary

• Gene Symbol: MCTP2   Gene   UCSC   Ensembl
• Gene name: multiple C2 and transmembrane domain containing 2
• Alternate names: multiple C2 and transmembrane domain-containing protein 2, multiple C2 domains, transmembrane 2, multiple C2-domains with two transmembrane regions 2 1,
• Gene location: 15q26.2 (94231537: 94483951)     Exons: 31     NC_000015.10
• OMIM: 616297

Protein Summary

• Protein general information: Q6DN12  
  • Name: Multiple C2 and transmembrane domain containing protein 2
  • Length: 878  
  • Mass: 99596
• Sequence:

  MDLDKPSVWGSLKQRTRPLLINLSKKKVKKNPSKPPDLRARHHLDRRLSLSVPDLLEAEALAPEGRPYSGPQSSY
  TSVPSSLSTAGIFPKSSSSSLKQSEEELDWSQEEASHLHVVETDSEEAYASPAERRRVSSNGIFDLQKTSLGGDA
  PEEPEKLCGSSDLNASMTSQHFEEQSVPGEASDGLSNLPSPFAYLLTIHLKEGRNLVVRDRCGTSDPYVKFKLNG
  KTLYKSKVIYKNLNPVWDEIVVLPIQSLDQKLRVKVYDRDLTTSDFMGSAFVILSDLELNRTTEHILKLEDPNSL
  EDDMGVIVLNLNLVVKQGDFKRHRWSNRKRLSASKSSLIRNLRLSESLKKNQLWNGIISITLLEGKNVSGGSMTE
  MFVQLKLGDQRYKSKTLCKSANPQWQEQFDFHYFSDRMGILDIEVWGKDNKKHEERLGTCKVDISALPLKQANCL
  ELPLDSCLGALLMLVTLTPCAGVSVSDLCVCPLADLSERKQITQRYCLQNSLKDVKDVGILQVKVLKAADLLAAD
  FSGKSDPFCLLELGNDRLQTHTVYKNLNPEWNKVFTFPIKDIHDVLEVTVFDEDGDKPPDFLGKVAIPLLSIRDG
  QPNCYVLKNKDLEQAFKGVIYLEMDLIYNPVKASIRTFTPREKRFVEDSRKLSKKILSRDVDRVKRITMAIWNTM
  QFLKSCFQWESTLRSTIAFAVFLITVWNFELYMIPLALLLIFVYNFIRPVKGKVSSIQDSQESTDIDDEEDEDDK
  ESEKKGLIERIYMVQDIVSTVQNVLEEIASFGERIKNTFNWTVPFLSSLACLILAAATIILYFIPLRYIILIWGI
  NKFTKKLRNPYSIDNNELLDFLSRVPSDVQKVQYAELKLCSSHSPLRKKRSAL

• Structural information:
  • Protein Domains: (177..29-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (334..45-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (494..60-)
    (/note="C2-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR013583  
  • Prosite: PS50004
  • PDB: 2EP6
  • PDBsum: 2EP6
  • STRING: ENSP00000350377
• Other Databases: GeneCards:  MCTP2  Malacards:  MCTP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005544	calcium-dependent phospholipid binding	IDA	NOT|molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0019722	calcium-mediated signaling	NAS	biological process
GO:0046928	regulation of neurotransmitter secretion	IBA	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray