Gene Gene information from NCBI Gene database.
Entrez ID 3156
Gene name 3-hydroxy-3-methylglutaryl-CoA reductase
Gene symbol HMGCR
Synonyms (NCBI Gene)
LDLCQ3LGMDR28MYPLG
Chromosome 5
Chromosome location 5q13.3
Summary HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs17244841 A>T Association, drug-response Intron variant
miRNA miRNA information provided by mirtarbase database.
761
miRTarBase ID miRNA Experiments Reference
MIRT016598 hsa-miR-193b-3p Microarray 20304954
MIRT018888 hsa-miR-335-5p Microarray 18185580
MIRT020381 hsa-miR-29c-3p Sequencing 20371350
MIRT028289 hsa-miR-32-5p Sequencing 20371350
MIRT048980 hsa-miR-92a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SREBF2 Activation 17448444
SREBF2 Unknown 19288057
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0004420 Function Hydroxymethylglutaryl-CoA reductase (NADPH) activity IBA
GO:0004420 Function Hydroxymethylglutaryl-CoA reductase (NADPH) activity IDA 2991281, 21357570
GO:0004420 Function Hydroxymethylglutaryl-CoA reductase (NADPH) activity IEA
GO:0005515 Function Protein binding IPI 23169578, 33961781
GO:0005777 Component Peroxisome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142910 5006 ENSG00000113161
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04035
Protein name 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase) (EC 1.1.1.34)
Protein function Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis (PubMed:21357
PDB 1DQ8 , 1DQ9 , 1DQA , 1HW8 , 1HW9 , 1HWI , 1HWJ , 1HWK , 1HWL , 2Q1L , 2Q6B , 2Q6C , 2R4F , 3BGL , 3CCT , 3CCW , 3CCZ , 3CD0 , 3CD5 , 3CD7 , 3CDA , 3CDB , 8PKN , 8S6B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12349 Sterol-sensing 85 235 Sterol-sensing domain of SREBP cleavage-activation Family
PF00368 HMG-CoA_red 491 871 Hydroxymethylglutaryl-coenzyme A reductase Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed with the highest levels in the cerebellum, fetal brain, testis, skin and adrenal gland. {ECO:0000269|PubMed:22989091}.; TISSUE SPECIFICITY: [Isoform 2]: Detected in the cerebellum, fetal brain, testi
Sequence
MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSS
DIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTG
LNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIG
VGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQL
SHFAR
VLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKR
IEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVT
QKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNS
SLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYK
LETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGACCENVIGYMPIPVGV
AGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRAC
DSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMI
SKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREV
LKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITL
MEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQGACKDNPGENARQLAR
IVCGTVMAGELSLMAALAAGHLVKSHMIHNR
SKINLQDLQGACTKKTA
Sequence length 888
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Terpenoid backbone biosynthesis
Metabolic pathways
AMPK signaling pathway
Bile secretion
  Cholesterol biosynthesis
PPARA activates gene expression
Activation of gene expression by SREBF (SREBP)
EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
50
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Limb-girdle muscular dystrophy Pathogenic rs2478804975 RCV003232630
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy, limb-girdle, autosomal recessive 28 Pathogenic; Likely pathogenic rs2478804975, rs982576013, rs1760562691, rs2478743697, rs2478802501 RCV003228086
RCV003236604
RCV003236605
RCV003236606
RCV003236607
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGINA, UNSTABLE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 8562480
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 25444747
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 19239419 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25023145, 26950278, 27009838, 28438747, 30975575, 36416173, 39201649 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 15639314, 27009838
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 31323021
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 12096274 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 29188294
★☆☆☆☆
Found in Text Mining only
Aphakia congenital primary Congenital primary aphakia Pubtator 26204136 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 11877351, 16781950, 19554360, 29775891, 30354246, 31558320
★☆☆☆☆
Found in Text Mining only