ENSG00000174527
Homo sapiens | |
Features
| Gene ID: | ENSG00000174527 | | | | | Biological name : | MYO1H | | | | | Synonyms : | MYO1H / myosin IH / Q8N1T3 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | 1 | | Band: | q24.11 | | Gene start: | 109347903 | | Gene end: | 109455523 | | | | | Corresponding Affymetrix probe sets: | 1553452_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000474025
Ensembl peptide - ENSP00000439182
Ensembl peptide - ENSP00000444076
NCBI entrez gene - 283446
See in Manteia.
OMIM - 614636
RefSeq - XM_017019207
RefSeq - NM_001101421
RefSeq - XM_011538223
RefSeq Peptide - NP_001094891
swissprot - Q8N1T3
swissprot - S4R387
swissprot - A0A140TA25
Ensembl - ENSG00000174527
| | | |
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)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
| | HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
Show
| | HP:0002093 | Respiratory insufficiency | |
Show
| | HP:0002251 | Congenital megacolon | "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:curators] |
Show
| | HP:0003005 | Ganglioneuroma | |
Show
| | HP:0006747 | Ganglioneuroblastoma | |
Show
| | HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
Show
|
Interacting proteins (from Reactome)
No match
0 s.
|
