HMGCS2

GENERAL INFORMATION

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Gene name

HMGCS2

Gene description

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (colon, liver)
GTEx:Group enriched (colon, liver)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression most abundant in hepatocytes, gastrointestinal tract, urinary bladder, gallbladder and cells in seminiferous ducts.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA027423 , HPA027442 , CAB032906
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Urinary bladder

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (colon, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (colon, liver)

Organ

Expression



GENE INFORMATION

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Gene name

HMGCS2

Synonyms

Description

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HGNC Symbol)

Entrez gene summary

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 this 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]

Chromosome

1

Cytoband

p12

Chromosome location (bp)

119747996 - 119768905

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134240 (version 78.38)

Entrez gene

3158

UniProt

P54868 (UniProt - Evidence at protein level)

neXtProt

NX_P54868

Antibodypedia

HMGCS2 antibodies


PROTEIN BROWSER

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ENST00000369406
 
ENST00000544913
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HMGCS2-001 ENSP00000358414
ENST00000369406
P54868
Show all »
Show » Show » 508 56.6 No 0
HMGCS2-004 ENSP00000439495
ENST00000544913
P54868
Show all »
Show » Show » 466 52.5 No 0