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HMGCS2
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    TISSUE

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    CELL

  • PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

HMGCS2

Gene description

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

Protein class

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

Predicted localization

Intracellular

Number of transcripts

2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Tissue enhanced (liver)
GTEx:Group enriched (colon, liver)
FANTOM5:Tissue enriched (liver)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in hepatocytes, gastrointestinal tract, urinary bladder, gallbladder and cells in seminiferous tubules.

DATA RELIABILITY

Data reliability
description

Antibody staining consistent with RNA expression data.

Reliability score

Supported based on 3 antibodies.
HPA027423 , HPA027442 , CAB032906
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Breast

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (liver)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (colon, liver)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)

GENE INFORMATION

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 83.38)

Entrez gene

3158

UniProt

P54868 (UniProt - Evidence at protein level)

neXtProt

NX_P54868

Antibodypedia

HMGCS2 antibodies

PROTEIN BROWSER

HMGCS2-001
HMGCS2-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HMGCS2-001
ENSP00000358414
ENST00000369406
P54868 [Direct mapping]
Hydroxymethylglutaryl-CoA synthase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001822 [kidney development]
GO:0001889 [liver development]
GO:0003824 [catalytic activity]
GO:0004421 [hydroxymethylglutaryl-CoA synthase activity]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005759 [mitochondrial matrix]
GO:0006695 [cholesterol biosynthetic process]
GO:0007420 [brain development]
GO:0007494 [midgut development]
GO:0007584 [response to nutrient]
GO:0008152 [metabolic process]
GO:0008299 [isoprenoid biosynthetic process]
GO:0009266 [response to temperature stimulus]
GO:0009617 [response to bacterium]
GO:0010038 [response to metal ion]
GO:0014070 [response to organic cyclic compound]
GO:0030324 [lung development]
GO:0032868 [response to insulin]
GO:0032869 [cellular response to insulin stimulus]
GO:0032870 [cellular response to hormone stimulus]
GO:0033555 [multicellular organismal response to stress]
GO:0033574 [response to testosterone]
GO:0033762 [response to glucagon]
GO:0034014 [response to triglyceride]
GO:0034284 [response to monosaccharide]
GO:0034696 [response to prostaglandin F]
GO:0042493 [response to drug]
GO:0042594 [response to starvation]
GO:0043434 [response to peptide hormone]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0045471 [response to ethanol]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
GO:0051384 [response to glucocorticoid]
GO:0051591 [response to cAMP]
GO:0060416 [response to growth hormone]
GO:0060612 [adipose tissue development]
GO:0070542 [response to fatty acid]
GO:0070543 [response to linoleic acid]
GO:0071222 [cellular response to lipopolysaccharide]
GO:0071230 [cellular response to amino acid stimulus]
GO:0071385 [cellular response to glucocorticoid stimulus]
GO:0071398 [cellular response to fatty acid]
GO:0071407 [cellular response to organic cyclic compound]
Show all
508 aa
56.6 kDa
No 0
HMGCS2-004
ENSP00000439495
ENST00000544913
P54868 [Direct mapping]
Hydroxymethylglutaryl-CoA synthase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004421 [hydroxymethylglutaryl-CoA synthase activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006695 [cholesterol biosynthetic process]
GO:0008152 [metabolic process]
GO:0008299 [isoprenoid biosynthetic process]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
Show all
466 aa
52.5 kDa
No 0

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