ENSG00000134240
Homo sapiens | |
Features
| Gene ID: | ENSG00000134240 | | | | | Biological name : | HMGCS2 | | | | | Synonyms : | 3-hydroxy-3-methylglutaryl-CoA synthase 2 / HMGCS2 / P54868 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | -1 | | Band: | p12 | | Gene start: | 119747996 | | Gene end: | 119768905 | | | | | Corresponding Affymetrix probe sets: | 204607_at (Human Genome U133 Plus 2.0 Array) 240110_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000439495
Ensembl peptide - ENSP00000358414
NCBI entrez gene - 3158
See in Manteia.
OMIM - 600234
RefSeq - XM_011541313
RefSeq - NM_001166107
RefSeq - NM_005518
RefSeq Peptide - NP_001159579
RefSeq Peptide - NP_005509
swissprot - P54868
swissprot - A0A140VJL2
Ensembl - ENSG00000134240
| | | | | Related genetic diseases (OMIM): | 605911 - HMG-CoA synthase-2 deficiency, 605911 |
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)
| HMGCS1 / Q01581 / 3-hydroxy-3-methylglutaryl-CoA synthase 1 | ENSG00000112972 | 62 |
Protein motifs (from Interpro)
| IPR000590 | Hydroxymethylglutaryl-coenzyme A synthase, active site | | IPR010122 | Hydroxymethylglutaryl-CoA synthase, eukaryotic | | IPR013528 | Hydroxymethylglutaryl-coenzyme A synthase, N-terminal | | IPR013746 | Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain | | IPR016039 | Thiolase-like |
Gene Ontology (GO)
Pathways (from Reactome)
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: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] |
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| | HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| | HP:0002013 | Vomiting | |
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| | HP:0002014 | Diarrhea | |
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| | HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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Interacting proteins (from Reactome)
No match
0 s.
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