MYO1H (myosin IH)

2014-11-01 Affiliation

Identity

HGNC

MYO1H

LOCATION

12q24.11

LOCUSID

283446

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000174527	ENST00000310903	A0A140TA25
ENSG00000174527	ENST00000431443	Q8N1T3
ENSG00000174527	ENST00000543960	S4R387

Expression (GTEx)

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

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA447199	Bipolar Disorder	Disease	ClinicalAnnotation	associated		PD	29121268
PA450243	lithium	Chemical	ClinicalAnnotation	associated		PD	29121268

References

Pubmed ID	Year	Title	Citations
30366217	2019	Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns.	2
22196185	2012	Genetic variation in myosin 1H contributes to mandibular prognathism.	0
27131252	2016	Role of myosin 1H gene polymorphisms in mandibular retrognathism.	0
28779001	2017	Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.	0
29986156	2018	Identification and Functional Studies of MYO1H for Mandibular Prognathism.	0

Citation

Dessen P

MYO1H (myosin IH)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70632/myo1h