Gene

hmgcrb

ID

ZDB-GENE-051108-1

Name

3-hydroxy-3-methylglutaryl-CoA reductase b

Symbol

hmgcrb Nomenclature History

Previous Names

hmgcr1b
hmgcr2 (1)
hmgrb (1)
im:6912716
zgc:110746

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to have hydroxymethylglutaryl-CoA reductase (NADPH) activity and hydroxymethylglutaryl-CoA reductase activity. Involved in animal organ development and blood vessel maturation. Predicted to localize to endoplasmic reticulum membrane and peroxisomal membrane. Human ortholog(s) of this gene implicated in several diseases, including asthma; coronary artery disease (multiple); dementia; diabetes mellitus (multiple); and neurodegenerative disease (multiple). Is expressed in liver; notochord; and polster. Orthologous to human HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

11 figures from 9 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6912716 (1 image)
IMAGE:6904727 (2 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 9 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With hmgcrb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Muscular dystrophy, limb-girdle, autosomal recessive 28	620375
		[Low density lipoprotein cholesterol level QTL 3]	620410
		[Statins, response to]	620410

Associated With hmgcrb Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR023076	Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site
Domain	IPR000731	Sterol-sensing domain
Domain	IPR053958	HMGCR/SNAP/NPC1-like, sterol-sensing domain
Family	IPR002202	Hydroxymethylglutaryl-CoA reductase, class I/II
Family	IPR004554	Hydroxymethylglutaryl-CoA reductase, eukaryotic/archaeal type
Family	IPR004816	Hydroxymethylglutaryl-CoA reductase, metazoan
Homologous_superfamily	IPR009023	Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain superfamily
Homologous_superfamily	IPR009029	Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain superfamily
Homologous_superfamily	IPR023074	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain superfamily
Homologous_superfamily	IPR023282	Hydroxymethylglutaryl-CoA reductase, N-terminal