MYBPH (myosin binding protein H)

2014-11-01  

Identity

HGNC
MYBPH
LOCATION
1q32.1
LOCUSID
4608
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4608
MIM: 160795
HGNC: 7552
Ensembl: ENSG00000133055

Variants:

dbSNP: 4608
ClinVar: 4608
TCGA: ENSG00000133055
COSMIC: MYBPH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133055ENST00000255416Q13203
ENSG00000133055ENST00000621380A0A087X023

Expression (GTEx)

0
5
10
15
20
25
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
269693272016MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.13
269693272016MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.13
241847152014Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients.34
241847152014Increased expression of Myosin binding protein H in the skeletal muscle of amyotrophic lateral sclerosis patients.34
220859292012MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasis.46
230681012012MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility.12
220859292012MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasis.46
230681012012MYBPH inhibits NM IIA assembly via direct interaction with NMHC IIA and reduces cell motility.12
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.32
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.32

Citation

Dessen P

MYBPH (myosin binding protein H)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70599/gene-fusions/js/web-card-gene.js