G2Cdb::Gene report

Gene id: G00002000
Gene symbol: MYO5A (HGNC)
Species: Homo sapiens
Description: myosin VA (heavy chain 12, myoxin)
Orthologue: G00000751 (Mus musculus)

Databases (8)
Synonyms (3)
Diseases (10)
Literature (74)
Gene lists (8)

Databases (8)

Gene: ENSG00000197535 (Ensembl human gene); 4644 (Entrez Gene); 51 (G2Cdb plasticity & disease); MYO5A (GeneCards)
Literature: 160777 (OMIM)
Marker Symbol: HGNC:7602 (HGNC)
Protein Expression: 1356 (human protein atlas)
Protein Sequence: Q9Y4I1 (UniProt)

Synonyms (3)

GS1
MYO5
MYR12

Diseases (10)

Disease	Nervous effect	Mutations Found	Literature	Mutations Type	Genetic association?
D00000235: Hypertrophic cardiomyopathy	N	Y	(1361491)	Deletion (D)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(7796500)	Microinsertion (MI)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(7796500)	Nonsense (No)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(7848441)	Microinsertion (MI)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(7959583)	Microinsertion (MI)	N
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(8254035)	Microinsertion (MI)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(8282798)	Microinsertion (MI)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(8343162)	Single nucleotide polymorphism (SNP)	Y
D00000093: Acute myeloid leukaemia	N	Y	(8643682)	Translocation fusion (with another gene) (TF)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(8655135)	Microinsertion (MI)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(8825881)	Deletion (D)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(8944596)	Insertion/deletion (I/D)	Y
D00000135: Griscelli syndrome	N	Y	(9207796)	Single nucleotide polymorphism (SNP)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(9822100)	Microinsertion (MI)	N
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(9829907)	Deletion (D)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(9829907)	Microinsertion (MI)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(10374350)	Repeat polymorphism (RP)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(10521296)	Microinsertion (MI)	Y
D00000135: Griscelli syndrome	N	Y	(10704277)	Insertion (I)	Y
D00000135: Griscelli syndrome	N	Y	(10733681)	Microinsertion (MI)	N
D00000237: Idiopathic dilated cardiomyopathy	N	Y	(11106718)	Microinsertion (MI)	Y
D00000208: Myopathy (autosomal dominant)	N	Y	(11114175)	Microinsertion (MI)	Y
D00000236: Hypertrophic cardiomyopathy (familial)	N	Y	(11133230)	Microinsertion (MI)	Y
D00000132: Macrothrombocytopenia (autosomal dominant)	N	Y	(11159552)	Microinsertion (MI)	Y
D00000132: Macrothrombocytopenia (autosomal dominant)	N	Y	(11159552)	Nonsense (No)	Y
D00000132: Macrothrombocytopenia (autosomal dominant)	N	Y	(11159552)	Deletion (D)	Y
D00000135: Griscelli syndrome	N	Y	(12058346)	No mutation found (N)	N
D00000135: Griscelli syndrome	N	Y	(12148598)	Unknown (?)	Y
D00000136: Griscelli syndrome type 3	N	Y	(12897212)	Deletion (D)	Y
D00000166: Schizophrenia	Y	Y	(16508936)	Single nucleotide polymorphism (SNP)	Y
D00000182: Encephalomyopathy	N	Y	(16142472)	Single nucleotide polymorphism (SNP)	?

References

Literature (74)

Pubmed - human_disease

Pubmed - other

Gene lists (8)

Gene List	Source	Species	Name	Description	Gene count
L00000009	G2C	Homo sapiens	Human PSD	Human orthologues of mouse PSD adapted from Collins et al (2006)	1080
L00000015	G2C	Homo sapiens	Human NRC	Human orthologues of mouse NRC adapted from Collins et al (2006)	186
L00000016	G2C	Homo sapiens	Human PSP	Human orthologues of mouse PSP adapted from Collins et al (2006)	1121
L00000034	G2C	Homo sapiens	Pocklington H3	Human orthologues of cluster 3 (mouse) from Pocklington et al (2006)	30
L00000059	G2C	Homo sapiens	BAYES-COLLINS-HUMAN-PSD-CONSENSUS	Human cortex PSD consensus	748
L00000061	G2C	Homo sapiens	BAYES-COLLINS-MOUSE-PSD-CONSENSUS	Mouse cortex PSD consensus (ortho)	984
L00000069	G2C	Homo sapiens	BAYES-COLLINS-HUMAN-PSD-FULL	Human cortex biopsy PSD full list	1461
L00000071	G2C	Homo sapiens	BAYES-COLLINS-MOUSE-PSD-FULL	Mouse cortex PSD full list (ortho)	1556