| Gene Information | |
|---|---|
| Gene Name | HMGCS2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 508 |
| Protein Names | Hydroxymethylglutaryl-CoA synthase, mitochondrial (HMG-CoA synthase) (EC 2.3.3.10) (3-hydroxy-3-methylglutaryl coenzyme A synthase) |
| Target Name | hydroxymethylglutaryl-coa synthase 2 |
| Target Type | Literature-reported target |
| Gene Age | 332 ( ENSG00000134240 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | P54868 |
| Gene Card | HMGCS2 |
| Uniprot ID | P54868 |
| Pfam | PF08540; PF01154 |
| In ASD | no |
| Allosteric Prediction | yes (0.496691996) |
| Ortholog in Animals | Alpaca_ HMGCS2 ( ortholog_one2one ) Dog_ HMGCS2 ( ortholog_one2one ) GuineaPig_ HMGCS2 ( ortholog_one2one ) Macaque_ HMGCS2 ( ortholog_one2one ) Mouse_ Hmgcs2 ( ortholog_one2one ) Pig_ HMGCS2 ( ortholog_one2many ) Rat_ Hmgcs2 ( ortholog_one2one ) Rabbit_ HMGCS2 ( ortholog_one2one ) |
| Ohnologs | HMGCS1 |
| Paralogs | HMGCS1 |
| Tissue | liver |
| Tissue Specificity | Expression in liver is 200-fold higher than in any other tissue. Low expression in colon, kidney, testis, and pancreas. Very low expression in heart and skeletal muscle (PubMed:7893153, PubMed:21952825, PubMed:16940161). Not detected in brain (PubMed:21952825). {ECO:0000269|PubMed:16940161, ECO:0000269|PubMed:21952825, ECO:0000269|PubMed:7893153}.; [Isoform 3]: Highest expression detected in heart and skeletal muscle. {ECO:0000269|PubMed:21952825}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2WYA (X-ray 1.70A ) |
| DBSNP | rs28937320 rs768707273 rs775528207 rs137852640 rs746217014 rs1237226874 rs137852636 rs761373362 rs137852638 rs1002548815 rs918691885 rs752626288 rs137852639 rs758519315 |
| Subcellular location [CC] | Mitochondrion {ECO:0000250|UniProtKB:P22791}. |
| Mouse PG classification | NA |
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