Gene Report

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Basic Info

Approved Symbol	MKL2
Symbol Alias	MRTF-B, FLJ31823
Approved Name	MKL/myocardin-like 2
Location	16p13.12
Position	chr16:14071321-14266773, 1
External Links	HGNC: 29819 Entrez Gene: 57496 Ensembl: ENSG00000186260 UCSC: uc002dcg.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: rs370175066	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003779	actin binding	molecular function	IEA	24
GO:0005634	nucleus	cellular component	IC[14565952]	283
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IEA	66

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0048514	blood vessel morphogenesis	biological process	IEA	3
GO:0003713	transcription coactivator activity	molecular function	IDA[14565952]	22
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0005515	protein binding	molecular function	IPI[12397177]	563
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0048568	embryonic organ development	biological process	IEA	2
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0001889	liver development	biological process	IEA	14
GO:0003007	heart morphogenesis	biological process	IEA	5
GO:0045844	positive regulation of striated muscle tissue development	biological process	IDA[14565952]	2
GO:0007517	muscle organ development	biological process	IEA	11
GO:0048738	cardiac muscle tissue development	biological process	IEA	4
GO:0051145	smooth muscle cell differentiation	biological process	IEA	2
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[14565952]	91

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MKL2	SRF	NO	in vitro;in vivo	14565952 , 12397177
MKL2	MKL1	NO	in vitro	14565952

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs370175066	chr16:14252476 - 14252476(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	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)
16p12.3-p13.1	chr16:10400000-21200000	1 (1/0/0)
16p13	chr16:10400000-16700000	4 (1/0/3)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr16:14071321..14266773 View in gBrowse