InnateDB Protein
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IDBP-64103.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MYH14
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Protein Name
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myosin, heavy chain 14, non-muscle
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000262269
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InnateDB Gene
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IDBG-64099 (MYH14)
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Protein Structure
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Function |
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. {ECO:0000250}.
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Subcellular Localization |
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Disease Associations |
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. {ECO:0000269PubMed:15015131, ECO:0000269PubMed:16222661}. 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. {ECO:0000269PubMed:21480433}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:12909352, ECO:0000269PubMed:14594953, ECO:0000269PubMed:19240025}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
29
[view]
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Protein-Protein |
29
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000533
Tropomyosin
IPR002928
Myosin tail
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PFAM |
PF00261
PF12718
PF01576
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PRINTS |
PR00194
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q7Z406
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PhosphoSite |
PhosphoSite-Q7Z406
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
79784
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UniGene |
Hs.467142
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RefSeq |
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HUGO |
HGNC:23212
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OMIM |
608568
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CCDS |
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HPRD |
10543
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IMGT |
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EMBL |
AB111886
AB290169
AC008655
AC010515
AC020906
AK023943
AY165122
AY203926
BC000676
BC004396
BC007877
BC018933
BG468611
CR936653
FJ041910
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GenPept |
AAH00676
AAH04396
AAH07877
AAH18933
AAO39147
AAP34449
ACM78630
BAB14735
BAC98374
BAG06723
CAI56791
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