Gene Report

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Basic Info

Approved Symbol	ACSM2A
Previous Symbol	ACSM2
Symbol Alias	A-923A4.1, MGC150530
Approved Name	acyl-CoA synthetase medium-chain family member 2A
Previous Name	acyl-CoA synthetase medium-chain family member 2
Location	16p12.3
Position	chr16:20451461-20487667, 1
External Links	HGNC: 32017 Entrez Gene: 123876 Ensembl: ENSG00000183747 UCSC: uc010bwe.3
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
Georgi, B., 2014	SNP: rs146045291	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070328	triglyceride homeostasis	biological process	NAS[16521160]	3
GO:0047760	butyrate-CoA ligase activity	molecular function	IDA[19345228]	2
GO:0036112	medium-chain fatty-acyl-CoA metabolic process	biological process	IDA[19345228]	1
GO:0005739	mitochondrion	cellular component	NAS[19634011]	75
GO:0005524	ATP binding	molecular function	IEA	118
GO:0042593	glucose homeostasis	biological process	NAS[16521160]	19
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0006631	fatty acid metabolic process	biological process	IEA	6
GO:0005759	mitochondrial matrix	cellular component	IEA	11

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs146045291	chr16:20465699 - 20465699(1)	downstream_gene_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; stop_gained	1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16p12	chr16:16700000-28500000	2 (1/1/0)
16p12.3-p13.1	chr16:10400000-21200000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr16:20451461..20487667 View in gBrowse