| 2804 | Hmgcs2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity; identical protein binding (ortholog); INVOLVED IN adipose tissue development; cellular response to amino acid stimulus; cellular response to fatty acid; PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathwa y; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Experimental Diabetes Mellitus; extrahepatic cholestasis; Hepatomegaly; FOUND IN mitochondrial matrix; mitochondrion (ortholog); INTERACTS WITH (+)-schisandrin B; 1-benzylpiperazine; 17alpha-ethynylestradiol | 2 | 188564348 | 188590872 | Rat | 418 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 10713 | Hmgcs2 | 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 | Enables hydroxymethylglutaryl-CoA synthase activity. Predicted to be involved in acetyl-CoA metabolic process; farnesyl diphosphate biosynthetic process, mevalonate pathway; and ketone body biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary syste m; cardiovascular system; facial bone primordium; nervous system; and reproductive system. Used to study HMG-CoA synthase 2 deficiency. Human ortholog(s) of this gene implicated in HMG-CoA synthase 2 deficiency. Orthologous to human HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2). [provided by Alliance of Genome Resources, Jul 2025] | 3 | 98187747 | 98218054 | Mouse | 481 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 737571 | HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in th is gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009] | 1 | 119747996 | 119768932 | Human | 505 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 8823467 | Hmgcs2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); identical protein binding (ortholog); INVOLVED IN acetyl-CoA metabolic process (ortholog); adipose tissue development (ortholog); cellular response to amino acid stimulus (ortholog); PARTICIPATES IN 3-hydroxy-3-m ethylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); congestive heart failure (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog) | NW_004955435 | 22804484 | 22820807 | Chinchilla | 71 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11847066 | HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); INVOLVED IN adipose tissue development (ortholog); cellular response to amino acid stimulus (ortholog); cellular response to fatty acid (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); congestive heart failure (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN mitochondrial matrix (ortholog) | 1 | 82778489 | 82798987 | Bonobo | 88 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12094098 | HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); INVOLVED IN adipose tissue development (ortholog); cellular response to amino acid stimulus (ortholog); cellular response to fatty acid (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); congestive heart failure (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN mitochondrial matrix (ortholog) | 17 | 56679942 | 56698521 | Dog | 87 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12542892 | Hmgcs2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); INVOLVED IN adipose tissue development (ortholog); cellular response to amino acid stimulus (ortholog); cellular response to fatty acid (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); congestive heart failure (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN mitochondrial matrix (ortholog) | NW_004936627 | 4451847 | 4473163 | Squirrel | 89 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18655514 | HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); INVOLVED IN adipose tissue development (ortholog); cellular response to amino acid stimulus (ortholog); cellular response to fatty acid (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); congestive heart failure (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN mitochondrial matrix (ortholog) | | | | Green Monkey | 88 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14010215 | HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); identical protein binding (ortholog); INVOLVED IN ketone body biosynthetic process (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-meth ylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); congestive heart failure (ortholog); genetic disease (ortholog); FOUND IN mitochondrion (inferred); INTERACTS WITH clofibrate | | | | Pig | 48 | symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18902582 | Hmgcs2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); identical protein binding (ortholog); INVOLVED IN adipose tissue development (ortholog); cellular response to amino acid stimulus (ortholog); cellular response to fatty acid (ortholog); PARTICIPATES IN 3-hydroxy- 3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); congestive heart failure (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN mitochondrial matrix (ortholog) | | | | Naked Mole-Rat | 87 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625953276 | Hmgcs2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); identical protein binding (ortholog); INVOLVED IN acetyl-CoA metabolic process (ortholog); adipose tissue development (ortholog); cellular response to amino acid stimulus (ortholog); PARTICIPATES IN 3-hydroxy-3-m ethylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Colonic Neoplasms (ortholog); congestive heart failure (ortholog); Experimental Diabetes Mellitus (ortholog); FOUND IN mitochondrial matrix (ortholog); mitochondrion (ortholog) | | | | Black Rat | 71 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14266849 | LOC110260333 | hydroxymethylglutaryl-CoA synthase, mitochondrial-like | ENCODES a protein that exhibits hydroxymethylglutaryl-CoA synthase activity (ortholog); INVOLVED IN adipose tissue development (ortholog); cellular response to amino acid stimulus (ortholog); cellular response to fatty acid (ortholog); PARTICIPATES IN ketone bodies biosynthetic pathway; ASSOCIATED W ITH Experimental Diabetes Mellitus (ortholog); extrahepatic cholestasis (ortholog); Hepatomegaly (ortholog); FOUND IN mitochondrial matrix (ortholog) | | | | Pig | 59 | ensembl_gene_symbol | gene, protein-coding, MODEL [RefSeq] |