Gene Report

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Basic Info

Approved Symbol	MYO5B
Symbol Alias	KIAA1119
Approved Name	myosin VB
Location	18q
Position	chr18:49822813-50195093, -1
External Links	HGNC: 7603 Entrez Gene: 4645 Ensembl: ENSG00000167306 UCSC: uc002leb.2
No. of Studies	2 (Positive: 1; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Sklar, P., 2008	SNP: rs4939921	Our strongest single SNP results are found in myosin5B (MYO5B; P-value = 1.66E-07). Haplotype analysis further supported single SNP results highlighting MYO5B (P value=2.04E-08)	Trend	Comment on Study
Johnson, C.,2009		Monte-Carlo Simulation P-value = 0.0003. One of Genes That Harbor Overlapping Clusters of 4 Nominally Positive SNPs Whose Allele Frequencies Distinguish Individuals With Bipolar Disorder From Controls With P<0.05 Nominal Significance From at Least Three of the Four Samples in This Analysis	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005516	calmodulin binding	molecular function	IEA	20
GO:0003779	actin binding	molecular function	IEA	24

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043234	protein complex	cellular component	IDA[17462998]	27
GO:0003091	renal water homeostasis	biological process	TAS	9
GO:0017137	Rab GTPase binding	molecular function	IPI[17462998]	6
GO:0045179	apical cortex	cellular component	IDA[21206382]	2
GO:0030659	cytoplasmic vesicle membrane	cellular component	TAS	12
GO:0005524	ATP binding	molecular function	IEA	118
GO:0008152	metabolic process	biological process	IEA; TAS	50
GO:0005515	protein binding	molecular function	IPI[19542231]	563
GO:0032439	endosome localization	biological process	IMP[21206382]	1
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0016192	vesicle-mediated transport	biological process	IMP[17462998]	10
GO:0016459	myosin complex	cellular component	IEA	1
GO:0000146	microfilament motor activity	molecular function	TAS	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0006833	water transport	biological process	TAS	9
GO:0015031	protein transport	biological process	IEA	21
GO:0055037	recycling endosome	cellular component	IC[21206382]	14

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 8)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MYO5B	RAB25	NO	yeast 2-hybrid	11408590
MYO5B	RAB11A	NO	yeast 2-hybrid	11495908 , 11408590
MYO5B	SMAD3	NO	in vitro	15527767
MYO5B	RAB11B	NO	in vitro;yeast 2-hybrid	11408590
MYO5B	KIAA1549	NO	yeast 2-hybrid	12421765
MYO5B	COIL	NO	yeast 2-hybrid	16713569
MYO5B	CXCR2	NO	in vivo	15004234
MYO5B	RAB11FIP2	NO	in vitro;in vivo;yeast 2-hybrid	11495908 , 12393859

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs4939921	chr18:49935958 - 49935958(1)	intron_variant	1(0/0/1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs17801369		chr18:49953121 - 49953121(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 9)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
18p21.1	chr18:45900000-50700000	1 (0/0/1)
18q	chr18:18500000-80373285	1 (0/1/0)
18q12.3-q21.1	chr18:39500000-63900000	1 (1/0/0)
18q12-21	chr18:27500000-63900000	1 (0/1/0)
18q12.3-q22.1	chr18:39500000-69100000	1 (0/1/0)
18q21	chr18:45900000-63900000	3 (2/1/0)
18q21-23	chr18:45900000-80373285	1 (1/0/0)
18q21-q22	chr18:45900000-75400000	1 (0/1/0)
Chr 18	chr18:0-80373285	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr18:49822813..50195093 View in gBrowse