ENSG00000105357
Homo sapiens | |
Features
| Gene ID: | ENSG00000105357 | | | | | Biological name : | MYH14 | | | | | Synonyms : | MYH14 / myosin heavy chain 14 / Q7Z406 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | 1 | | Band: | q13.33 | | Gene start: | 50188186 | | Gene end: | 50310544 | | | | | Corresponding Affymetrix probe sets: | 217545_at (Human Genome U133 Plus 2.0 Array) 217660_at (Human Genome U133 Plus 2.0 Array) 219946_x_at (Human Genome U133 Plus 2.0 Array) 226988_s_at (Human Genome U133 Plus 2.0 Array) 232977_x_at (Human Genome U133 Plus 2.0 Array) 234290_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000472819
Ensembl peptide - ENSP00000493594
Ensembl peptide - ENSP00000493667
Ensembl peptide - ENSP00000493650
Ensembl peptide - ENSP00000262269
Ensembl peptide - ENSP00000366169
Ensembl peptide - ENSP00000406273
Ensembl peptide - ENSP00000407879
Ensembl peptide - ENSP00000469573
Ensembl peptide - ENSP00000470298
Ensembl peptide - ENSP00000472543
NCBI entrez gene - 79784
See in Manteia.
OMIM - 608568
RefSeq - XM_011527320
RefSeq - XM_011527321
RefSeq - XM_006723386
RefSeq - NM_001077186
RefSeq - NM_001145809
RefSeq - NM_024729
RefSeq - XM_011527323
RefSeq Peptide - NP_001139281
RefSeq Peptide - NP_001070654
RefSeq Peptide - NP_079005
swissprot - Q7Z406
swissprot - A1L2Z2
swissprot - M0QY43
swissprot - A0A0C4DFM8
Ensembl - ENSG00000105357
| | | | | Related genetic diseases (OMIM): | 600652 - Deafness, autosomal dominant 4A, 600652 | | | 614369 - ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000408 | Hearing loss, sensorineural, progressive | |
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| | HP:0001265 | Hyporeflexia | |
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| | HP:0001284 | Areflexia | |
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| | HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| | HP:0001609 | Hoarse voice | |
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| | HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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| | HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| | HP:0003676 | Progressive disorder | |
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| | HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| | HP:0008180 | Mildly elevated creatine phosphokinase | |
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| | HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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Interacting proteins (from Reactome)
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