AutismKB 2.0

Annotation Details for CMA1


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Basic Information Top
Gene Symbol:CMA1 ( CYH,MCT1,MGC119890,MGC119891,chymase )
Gene Full Name: chymase 1, mast cell
Band: 14q12
Quick LinksEntrez ID:1215; OMIM: 118938; Uniprot ID:CMA1_HUMAN; ENSEMBL ID: ENSG00000092009; HGNC ID: 2097
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005623IEA-cell-
GO:0031012IDAcolocalizes_withextracellular matrix20551380
GO ID Evidence Qualifier GO_term References
GO:0004175EXP-endopeptidase activity9256427
GO:0004252IDA-serine-type endopeptidase activity1919436
GO:0004252NAS-serine-type endopeptidase activity8144971
GO:0004252TAS-serine-type endopeptidase activity-
GO:0008236EXP-serine-type peptidase activity2266130
GO:0042277IEA-peptide binding-
GO ID Evidence Qualifier GO_term References
GO:0002003TAS-angiotensin maturation-
GO:0016485IBA-protein processing-
GO:0022617TAS-extracellular matrix disassembly-
GO:0030901IEA-midbrain development-
GO:0045766IEA-positive regulation of angiogenesis-
GO:0050720IDA-interleukin-1 beta biosynthetic process1919436
GO:0050727IC-regulation of inflammatory response1919436
GO:0071333IEA-cellular response to glucose stimulus-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:96941
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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