MYH14_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
MYH14
, KIAA2034
, FP17425
Protein names and data:
MYH14_HUMAN
, Myosin-14
, Myosin heavy chain 14; Myosin heavy chain, non-muscle IIc; Non-muscle myosin heavy chain IIc; NMHC II-C
Lenght: 1995 a.a.
Mass: 227871 Da
fasta formatted sequence
Function:
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping (By similarity).
Disease:
( OMIM:
600652
608568
614369
)
Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry. Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]: A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
High levels of expression are found in brain (highest in corpus callosum), heart, kidney, liver, lung, small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth muscle, such as aorta, uterus and urinary bladder. No detectable expression is found in thymus, spleen, placenta and lymphocytes.
Genetic variants
120 - 120
S -> L (in DFNA4A). VAR_037302
266 - 266
I -> V. VAR_022866
334 - 334
P -> A (in dbSNP:rs34498817). VAR_056176
34498817
376 - 376
G -> C (in DFNA4A). VAR_022867
726 - 726
R -> S (in DFNA4A; dbSNP:rs28940307). VAR_022868
28940307
933 - 933
R -> L (in PNMHH). VAR_066338
976 - 976
L -> F (in DFNA4A; dbSNP:rs28940306). VAR_022869
28940306
1154 - 1154
A -> V. VAR_066339
1209 - 1209
A -> E (in dbSNP:rs11669191). VAR_056177
11669191
1540 - 1540
V -> I (in dbSNP:rs680446). VAR_056178
680446
1559 - 1559
N -> S. VAR_022870
Database cross-references
UniProt:
Q7Z406
Ensembl:
ENST00000262269
Ensembl:
ENST00000425460
Ensembl:
ENST00000596571
Ensembl:
ENST00000598205
Ensembl:
ENST00000601313
MIM:
600652
MIM:
608568
MIM:
614369
neXtProt:
NX_Q7Z406
Antibodypedia:
Q7Z406
(may not find the protein thus also not any antibody)
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