MCCC2

GENERAL INFORMATION

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Gene name

MCCC2

Gene description

Methylcrotonoyl-CoA carboxylase 2 (beta)

Protein class

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

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

High expression of mitochondria in a majority of tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA038300 , HPA038301 , HPA061546
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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

Testis

Skin



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

MCCC2 (HGNC Symbol)

Synonyms

MCCB

Description

Methylcrotonoyl-CoA carboxylase 2 (beta) (HGNC Symbol)

Entrez gene summary

This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]

Chromosome

5

Cytoband

q13.2

Chromosome location (bp)

71587288 - 71658704

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000131844 (version 78.38)

Entrez gene

64087

UniProt

Q9HCC0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9HCC0

Antibodypedia

MCCC2 antibodies


PROTEIN BROWSER

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ENST00000340941
 
ENST00000509358
 
ENST00000509539
 
 
 
 


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)

MCCC2-001 ENSP00000343657
ENST00000340941
Q9HCC0
Show all »
Show » Show » 563 61.3 No 0
MCCC2-003 ENSP00000420994
ENST00000509358
D6RDF7
Show all »
Show » Show » 363 39.7 No 0
MCCC2-009 ENSP00000425474
ENST00000509539
D6RD67
Show all »
Show » Show » 286 31.6 No 0