AutismKB 2.0

Annotation Details for MCTP2


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Basic Information Top
Gene Symbol:MCTP2 ( FLJ11175,FLJ33303,MGC111402 )
Gene Full Name: multiple C2 domains, transmembrane 2
Band: 15q26.2
Quick LinksEntrez ID:55784; OMIM: NA; Uniprot ID:MCTP2_HUMAN; ENSEMBL ID: ENSG00000140563; HGNC ID: 25636
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005783IBA-endoplasmic reticulum-
GO:0005829IDA-cytosol-
GO:0016020IDA-membrane19946888
GO:0016021IDA-integral component of membrane15528213
GO ID Evidence Qualifier GO_term References
GO:0005509IDA-calcium ion binding15528213
GO:0005544IDANOTcalcium-dependent phospholipid binding15528213
GO ID Evidence Qualifier GO_term References
GO:0007275IEA-multicellular organism development-
GO:0019722NAS-calcium-mediated signaling15528213
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
MCTP2rs10152899, rs10520749, rs11074279, rs11630899, rs11633291, rs11852581, rs12101974, rs12440504, rs12899314, rs12910914, rs1433944, rs1529776, rs17630733, rs17631184, rs1991897, rs2117214, rs2552175, rs293577, rs294542, rs294543, rs294544, rs294557, rs294558, rs294560, rs3784647, rs4984380, rs4984390, rs4984391, rs7163806, rs7176435, rs7178612, rs7180682, rs8025603, rs8027043 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:2685335
  • Data Attributes: HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018