Gene Report

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Basic Info

Approved Symbol	CMA1
Approved Name	chymase 1, mast cell
Location	14q12
Position	chr14:24505353-24508265, -1
External Links	HGNC: 2097 Entrez Gene: 1215 Ensembl: ENSG00000092009 UCSC: uc001wpp.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McQuillin, A.,2011		Gene related CNV occurred in two or more cases but not in controls.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031012	extracellular matrix	cellular component	IDA[20551380]	9

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0002003	angiotensin maturation	biological process	TAS	3
GO:0050727	regulation of inflammatory response	biological process	IC[1919436]	4
GO:0006508	proteolysis	biological process	IEA	34
GO:0004252	serine-type endopeptidase activity	molecular function	IDA[1919436]; NAS[8144971]	9
GO:0050720	interleukin-1 beta biosynthetic process	biological process	IDA[1919436]	1
GO:0071333	cellular response to glucose stimulus	biological process	IEA	7
GO:0005622	intracellular	cellular component	IEA	17
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0022617	extracellular matrix disassembly	biological process	TAS	10
GO:0005576	extracellular region	cellular component	TAS	97
GO:0042277	peptide binding	molecular function	IEA	11
GO:0016485	protein processing	biological process	IBA	5
GO:0030901	midbrain development	biological process	IEA	6
GO:0045766	positive regulation of angiogenesis	biological process	IEA	11
GO:0030198	extracellular matrix organization	biological process	TAS	26
GO:0005615	extracellular space	cellular component	IBA	85
GO:0008236	serine-type peptidase activity	molecular function	TAS[2071582]	9

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04614	Renin-angiotensin system	4

Gene related BioCarta pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
ace2Pathway	Angiotensin-converting enzyme 2 regulates heart function	4

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CMA1	KITLG	YES	in vitro	10224464
CMA1	MMP1	NO	in vitro;in vivo	8027075
CMA1	SERPINA3	NO	in vitro	8226889
CMA1	EDN2	NO	in vitro	9675146
CMA1	EDN1	NO	in vitro	9257865
CMA1	PFN1	NO	in vitro	11751973
CMA1	EDN3	NO	in vitro	9257865

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_McQuillin[2011]_20	chr14:24044551-24047311 (NCBI Build 36 (hg18))	2761

Gene related other variants (count: 0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 14	chr14:0-107043718	2 (0/2/0)
14q12-q22.3	chr14:24100000-57600000	1 (1/0/0)
14q11.2-12.0	chr14:18200000-32900000	1 (0/1/0)
14q11.2-14q12	chr14:18200000-32900000	1 (0/0/1)
14q11.2-q13.1	chr14:18200000-34800000	1 (1/0/0)
14q12-q13	chr14:24100000-37400000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr14:24505353..24508265 View in gBrowse