ENSG00000157483
Homo sapiens | |
Features
| Gene ID: | ENSG00000157483 | | | | | Biological name : | MYO1E | | | | | Synonyms : | MYO1E / myosin IE / Q12965 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 15 | | Strand: | -1 | | Band: | q22.2 | | Gene start: | 59132434 | | Gene end: | 59372900 | | | | | Corresponding Affymetrix probe sets: | 1556623_at (Human Genome U133 Plus 2.0 Array) 203072_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000288235
Ensembl peptide - ENSP00000453232
Ensembl peptide - ENSP00000453811
Ensembl peptide - ENSP00000453936
Ensembl peptide - ENSP00000454113
Ensembl peptide - ENSP00000453178
NCBI entrez gene - 4643
See in Manteia.
OMIM - 601479
RefSeq - NM_004998
RefSeq Peptide - NP_004989
swissprot - Q4KMR3
swissprot - H0YLE5
swissprot - H0YLJ4
swissprot - H0YN00
swissprot - H0YNB0
swissprot - H0YNQ8
swissprot - Q12965
Ensembl - ENSG00000157483
| | | | | Related genetic diseases (OMIM): | 614131 - Glomerulosclerosis, focal segmental, 6, 614131 |
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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000092 | Tubular atrophy | |
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| | HP:0000093 | Proteinuria | |
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| | HP:0000097 | Focal segmental glomerulosclerosis | |
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| | HP:0000100 | Nephrotic syndrome | |
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| | HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| | HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| | HP:0003073 | Hypoalbuminemia | "Reduction in the concentration of albumin in the blood." [HPO:curators] |
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| | HP:0003676 | Progressive disorder | |
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| | HP:0012622 | Chronic kidney disease | "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] |
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Interacting proteins (from Reactome)
No match
0 s.
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