MYO1H (myosin IH)

2014-11-01  

Identity

HGNC
MYO1H
LOCATION
12q24.11
LOCUSID
283446
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 283446
MIM: 614636
HGNC: 13879
Ensembl: ENSG00000174527

Variants:

dbSNP: 283446
ClinVar: 283446
TCGA: ENSG00000174527
COSMIC: MYO1H

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174527ENST00000310903A0A140TA25
ENSG00000174527ENST00000431443Q8N1T3
ENSG00000174527ENST00000543960S4R387

Expression (GTEx)

0
1
2
3
4
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447199Bipolar DisorderDiseaseClinicalAnnotationassociatedPD29121268
PA450243lithiumChemicalClinicalAnnotationassociatedPD29121268

References

Pubmed IDYearTitleCitations
357041182022MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.1
357041182022MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.1
334481672020Relationship of the rs10850110 and rs11611277 polymorphisms of the MYO1H gene with non-syndromic mandibular prognathism in the Iranian population.4
334481672020Relationship of the rs10850110 and rs11611277 polymorphisms of the MYO1H gene with non-syndromic mandibular prognathism in the Iranian population.4
303662172019Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns.18
303662172019Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns.18
299861562018Identification and Functional Studies of MYO1H for Mandibular Prognathism.11
299861562018Identification and Functional Studies of MYO1H for Mandibular Prognathism.11
287790012017Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.10
287790012017Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.10
271312522016Role of myosin 1H gene polymorphisms in mandibular retrognathism.8
271312522016Role of myosin 1H gene polymorphisms in mandibular retrognathism.8
221961852012Genetic variation in myosin 1H contributes to mandibular prognathism.39
221961852012Genetic variation in myosin 1H contributes to mandibular prognathism.39

Citation

Dessen P

MYO1H (myosin IH)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70632/img/hgnc