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Cancer

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HMGCS2
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    TISSUE

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    CELL

  • PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary

Level of antibody staining/expression





High
Medium
Low
Not detected

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 category

TCGA (cancer tissue):Tissue enhanced (liver cancer)
HPA (cell line):Cell line enriched (RT4)
HPA (normal tissue):Tissue enhanced (liver)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

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

ANTIBODY IHC RELIABILITY

Data reliability
description

Antibody staining consistent with RNA expression data.

Reliability score

Supported based on 3 antibodies.
HPA027423 , HPA027442 , CAB032906
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PROGNOSTIC SUMMARY

Prognostic marker in liver cancer (favourable), renal cancer (favourable) and ovarian cancer (favourable).
Liver cancer p<0.001
Renal cancer p<0.001
Ovarian cancer p<0.001
Show all

RNA EXPRESSION OVERVIEW

TCGA dataset
RNA cancer category: Tissue enhanced (liver cancer)

PROTEIN EXPRESSION

Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY

HPA027423
HPA027442
CAB032906

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Moderate to strong cytoplasmic immunoreactivity was observed in most cases of liver cancers as well as fractions of cases in colorectal, breast, prostate, urothelial, renal and stomach cancers. Cancer cells in general were negative.

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Distinct cytoplasmic positivity was observed in a majority of colorectal, prostate, breast, stomach, urothelial and hepatocellular cancers as well as several pancreatic cancers. Most of the remaining cancers were negative.

Cancer

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Cancer

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Staining summary

Several colorectal cancers along with a few cases of breast, prostate, ovarian, urothelial, gastric and liver cancers exhibited moderate to strong cytoplasmic positivity. Remaining cancer tissues were weakly stained or negative.

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
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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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The Human Protein Atlas project is funded
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