Gene Report

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Basic Info

Approved Symbol	MYL12A
Symbol Alias	MLCB, MYL2B, MRLC3, MRCL3
Approved Name	myosin, light chain 12A, regulatory, non-sarcomeric
Previous Name	myosin, light polypeptide, regulatory, non-sarcomeric (20kD)
Name Alias	myosin regulatory light chain 3
Location	18p11.31
Position	chr18:3247481-3256236, 1
External Links	HGNC: 16701 Entrez Gene: 10627 Ensembl: ENSG00000101608 UCSC: uc002klr.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Moskvina, V.,2009		In BD:Smallest P-value per gene=0.01437, Product of P truncation <=0.01=0.00678, Product of P truncation <=0.001=NA. It showed evidence for association with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005509	calcium ion binding	molecular function	IEA	50
GO:0007411	axon guidance	biological process	TAS	60

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0035254	glutamate receptor binding	molecular function	IEA	4
GO:0008360	regulation of cell shape	biological process	IEA	16
GO:0048013	ephrin receptor signaling pathway	biological process	TAS	11
GO:0005829	cytosol	cellular component	TAS	223
GO:0072661	protein targeting to plasma membrane	biological process	IEA	3
GO:0016460	myosin II complex	cellular component	IEA	3
GO:0001725	stress fiber	cellular component	IEA	3
GO:0005515	protein binding	molecular function	IPI[21457715]	563
GO:0070527	platelet aggregation	biological process	IMP[23382103]	4
GO:0030018	Z disc	cellular component	IEA	16
GO:0070062	extracellular vesicular exosome	cellular component	IDA[20458337]	176

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MYL12A	SVIL	YES	VV	12202484

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 7)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
18p11-q12.3	chr18:0-45900000	1 (0/0/1)
18pter-p11	chr18:0-18500000	1 (0/1/0)
Chr 18	chr18:0-80373285	1 (1/0/0)
18p11	chr18:0-18500000	6 (1/2/3)
18p	chr18:0-18500000	1 (0/1/0)
18p11.31	chr18:2900000-7200000	1 (0/1/0)
18p11.3	chr18:0-7200000	1 (1/0/0)

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

Gene relationship with SZ

Reference	Description	Result Category
19065143	In SZ:Smallest P-value per gene=0.00106, Product of P truncation <=0.01=0.00096, Product of P truncation <=0.001=0.00124 It showed evidence for association with SZ.	Positive

Gene relationship with MDD

View in gBrowse

Region: chr18:3247481..3256236 View in gBrowse