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 enable hydroxymethylglutaryl-CoA reductase (NADPH) activity. Acts upstream of or within circulatory system development; embryonic viscerocranium morphogenesis; and neural crest cell migration. Predicted to be located in endoplasmic reticulum; membrane; and peroxisome. Predicted to be active in endoplasmic reticulum membrane and peroxisomal membrane. Is expressed in liver; notochord; and polster. Human ortholog(s) of this gene implicated in several diseases, including asthma; coronary artery disease (multiple); dementia; diabetes mellitus (multiple); and neurodegenerative disease (multiple). 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