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. Alternative splicing results in multiple transcript va... See more...

Aliases for MCCC2 Gene

Aliases for MCCC2 Gene

  • Methylcrotonyl-CoA Carboxylase Subunit 2 2 3
  • MCCB 2 3 4
  • 3-Methylcrotonyl-CoA Carboxylase Non-Biotin-Containing Subunit 3 4
  • Methylcrotonoyl-CoA Carboxylase Beta Chain, Mitochondrial 3 4
  • 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Beta 3 4
  • Methylcrotonoyl-Coenzyme A Carboxylase 2 (Beta) 2 3
  • 3-Methylcrotonyl-CoA Carboxylase 2 3 4
  • Methylcrotonoyl-CoA Carboxylase 2 2 5
  • MCCase Subunit Beta 3 4
  • EC 6.4.1.4 4 50
  • Non-Biotin Containing Subunit Of 3-Methylcrotonyl-CoA Carboxylase 3
  • 3-Methylcrotonyl-CoA Carboxylase Non-Biotin Containing Subunit 2
  • Methylcrotonoyl-CoA Carboxylase 2 (Beta) 3
  • Methylcrotonoyl-CoA Carboxylase Beta 2
  • Testicular Secretory Protein Li 29 3
  • Biotin Carboxylase 3
  • MCCCbeta 3
  • MCCC2 5
  • MCCCβ 2

External Ids for MCCC2 Gene

Previous GeneCards Identifiers for MCCC2 Gene

  • GC05P069689
  • GC05P071116
  • GC05P070921
  • GC05P070967
  • GC05P070918
  • GC05P066088
  • GC05P070883

Summaries for MCCC2 Gene

Entrez Gene Summary for MCCC2 Gene

  • 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]

GeneCards Summary for MCCC2 Gene

MCCC2 (Methylcrotonyl-CoA Carboxylase Subunit 2) is a Protein Coding gene. Diseases associated with MCCC2 include 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency and 3-Methylcrotonyl-Coa Carboxylase Deficiency. Among its related pathways are Defects in biotin (Btn) metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include ligase activity and methylcrotonoyl-CoA carboxylase activity. An important paralog of this gene is PCCB.

UniProtKB/Swiss-Prot Summary for MCCC2 Gene

  • Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCCC2 Gene

Genomics for MCCC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCCC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J071585 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 267.5 +0.1 141 3.3 SP1 MYC IKZF1 ZNF600 ZNF592 KLF9 POLR2A ZNF10 BRCA1 NFIC MCCC2 BDP1 RF00017-4242 CARTPT
GH05J071572 Promoter 0.4 EPDnew 250.4 -15.1 -15091 0.1 ZNF544 lnc-BDP1-6 MCCC2 piR-38845-001 RF00017-4242 BDP1
GH05J071454 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.6 -130.8 -130787 3.4 BCLAF1 SP1 ZNF207 IKZF1 MYC ZNF600 SIX5 JUND ZNF580 ATF2 BDP1 GUSBP15 MCCC2 NAIPP4 SMN1 lnc-GTF2H2-10 HSALNG0042529 lnc-GTF2H2-9
GH05J071600 Promoter/Enhancer 1.2 Ensembl ENCODE 18.4 +14.1 14129 2.6 ZNF600 JUND ZNF10 NFIC ZBTB10 YY1 CEBPB TRIM22 FEZF1 SIX4 HSALNG0042541 MCCC2 RF00017-4242 CARTPT
GH05J071481 Enhancer 0.9 Ensembl ENCODE 15.6 -104.1 -104071 2.8 JUND ATF2 CEBPA CEBPB FOXA2 SMAD4 RXRA SAP130 RFX5 RARA HSALNG0042529 lnc-GTF2H2-9 MCCC2 BDP1 GUSBP16 GUSBP9 SMN1 MRPS27 NAIP RF00017-4244
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCCC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCCC2

Top Transcription factor binding sites by QIAGEN in the MCCC2 gene promoter:
  • aMEF-2
  • CBF(2)
  • Gfi-1
  • MEF-2A
  • NF-Y
  • p53
  • TBP
  • TFIID
  • USF-1
  • USF1

Genomic Locations for MCCC2 Gene

Latest Assembly
chr5:71,587,288-71,658,706
(GRCh38/hg38)
Size:
71,419 bases
Orientation:
Plus strand

Previous Assembly
chr5:70,883,167-70,954,533
(GRCh37/hg19 by Entrez Gene)
Size:
71,367 bases
Orientation:
Plus strand

chr5:70,883,115-70,954,531
(GRCh37/hg19 by Ensembl)
Size:
71,417 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr5(ALT_REF_LOCI_1):1,585,825-1,610,592 (+)
  • chr5(ALT_REF_LOCI_2):1,117,315-1,142,082 (+)

Genomic View for MCCC2 Gene

Genes around MCCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCCC2 Gene

Proteins for MCCC2 Gene

  • Protein details for MCCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCC0-MCCB_HUMAN
    Recommended name:
    Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
    Protein Accession:
    Q9HCC0
    Secondary Accessions:
    • A6NIY9
    • Q96C27
    • Q9Y4L7

    Protein attributes for MCCC2 Gene

    Size:
    563 amino acids
    Molecular mass:
    61333 Da
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits.
    SequenceCaution:
    • Sequence=AAH14897.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for MCCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCCC2 Gene

Selected DME Specific Peptides for MCCC2 Gene

Q9HCC0:
  • GIAKDGAKMV
  • GAGNYGMCGR
  • FLQNITGFMVG
  • TLVTGFARI
  • GPPLVKAATGE
  • ISVMGGEQAA
  • GSCTAGGAY
  • DVREVIARIVDGSRF

Post-translational modifications for MCCC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MCCC2 Gene

Gene Families for MCCC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MCCC2 Gene

InterPro:
Blocks:
  • Carboxyl transferase family

Suggested Antigen Peptide Sequences for MCCC2 Gene

GenScript: Design optimal peptide antigens:
  • 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta (MCCB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCC0

UniProtKB/Swiss-Prot:

MCCB_HUMAN :
  • Belongs to the AccD/PCCB family.
Family:
  • Belongs to the AccD/PCCB family.
genes like me logo Genes that share domains with MCCC2: view

Function for MCCC2 Gene

Molecular function for MCCC2 Gene

UniProtKB/Swiss-Prot Function:
Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-methyl-(2E)-butenoyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + phosphate + trans-3-methylglutaconyl-CoA; Xref=Rhea:RHEA:13589, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57344, ChEBI:CHEBI:57346, ChEBI:CHEBI:456216; EC=6.4.1.4; Evidence={ECO:0000269|PubMed:17360195};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=45 uM for ATP {ECO:0000269|PubMed:17360195}; KM=74 uM for 3-methylcrotonyl-CoA {ECO:0000269|PubMed:17360195}; Note=kcat is 4.0 sec(-1).;

Enzyme Numbers (IUBMB) for MCCC2 Gene

Phenotypes From GWAS Catalog for MCCC2 Gene

Gene Ontology (GO) - Molecular Function for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004485 contributes_to methylcrotonoyl-CoA carboxylase activity IBA,NAS 11170888
GO:0005515 protein binding IPI 17360195
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with MCCC2: view
genes like me logo Genes that share phenotypes with MCCC2: view

Human Phenotype Ontology for MCCC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCCC2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MCCC2 Gene

Localization for MCCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCCC2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCCC2 gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002169 3-methylcrotonyl-CoA carboxylase complex, mitochondrial TAS 22869039
GO:0005739 mitochondrion IDA,NAS 11181649
GO:0005759 mitochondrial matrix IDA,TAS --
GO:0005829 cytosol TAS --
GO:1905202 methylcrotonoyl-CoA carboxylase complex IBA,IDA 17360195
genes like me logo Genes that share ontologies with MCCC2: view

Pathways & Interactions for MCCC2 Gene

genes like me logo Genes that share pathways with MCCC2: view

UniProtKB/Swiss-Prot Q9HCC0-MCCB_HUMAN

  • Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3.

Gene Ontology (GO) - Biological Process for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process IBA,TAS 11170888
GO:0006768 biotin metabolic process TAS --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0015936 coenzyme A metabolic process IEA --
genes like me logo Genes that share ontologies with MCCC2: view

No data available for SIGNOR curated interactions for MCCC2 Gene

Drugs & Compounds for MCCC2 Gene

(3) Drugs for MCCC2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra Target, cofactor 70
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(6) Additional Compounds for MCCC2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(E)-2-Methylglutaconic acid
  • (e)-2-Methylglutaconate
  • (e)-2-Methyl-2-pentenedioate
  • (e)-2-Methyl-2-pentenedioic acid
  • trans-2-Methylglutaconate
  • trans-2-Methylglutaconic acid
53358-21-7
3-methylcrotonyl-coa
  • 3,3-Dimethacrylyl-CoA
  • 3,3-Dimethacrylyl-coenzyme A
  • 3-Methylcrotonoyl-CoA
  • 3-Methylcrotonyl-CoA
  • beta,beta-Dimethacrylyl-CoA
6712-03-4
3-methylglutaconyl-coa
  • (e)-3-Methylglutaconyl-1-CoA
  • 3-Methylglutaconyl-CoA
  • (E)-3-Methylglutaconyl-1-coenzyme A
  • 3-Methylglutaconyl CoA
  • 3-Methylglutaconyl-coenzyme A
6247-73-0
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
Cer(d18:1/16:0)
  • (2S,3R,4E)-2-Acylamino-1,3-octadec-4-enediol
  • (2S,3R,4E)-2-Acylaminooctadec-4-ene-1,3-diol
  • C16 Cer
  • C16 Ceramide
  • C16-0(Palmitoyl)ceramide
24696-26-2
genes like me logo Genes that share compounds with MCCC2: view

Transcripts for MCCC2 Gene

mRNA/cDNA for MCCC2 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCCC2

Alternative Splicing Database (ASD) splice patterns (SP) for MCCC2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - - - - -
SP2: - - - - -
SP3: -
SP4:
SP5: -

Relevant External Links for MCCC2 Gene

GeneLoc Exon Structure for
MCCC2

Expression for MCCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCCC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCCC2 Gene

This gene is overexpressed in Breast (8.9), Heart (8.2), and Liver (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCCC2 Gene



Protein tissue co-expression partners for MCCC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCCC2

SOURCE GeneReport for Unigene cluster for MCCC2 Gene:

Hs.604789

Evidence on tissue expression from TISSUES for MCCC2 Gene

  • Liver(4.5)
  • Kidney(4.4)
  • Heart(2.6)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCCC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • stomach
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with MCCC2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCCC2 Gene

Orthologs for MCCC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCCC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MCCC2 29 30
  • 99.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MCCC2 29 30
  • 89.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MCCC2 29 30
  • 88.99 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 87 (a)
OneToMany
-- 30
  • 85 (a)
OneToMany
-- 30
  • 74 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Mccc2 29
  • 84.49 (n)
Mouse
(Mus musculus)
Mammalia Mccc2 29 16 30
  • 83.96 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MCCC2 30
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MCCC2 29 30
  • 78.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCCC2 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mccc2 29
  • 73.6 (n)
Str.17184 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.15463 29
Zebrafish
(Danio rerio)
Actinopterygii mccc2 29 30
  • 73.73 (n)
OneToOne
Dr.28547 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG3267 29 30 31
  • 62.31 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002761 29
  • 60.83 (n)
Worm
(Caenorhabditis elegans)
Secernentea F02A9.4a 31
  • 65 (a)
F02A9.4 29 30
  • 62.8 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MCCB 29
  • 58.13 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0424200 29
  • 62.43 (n)
Os.27361 29
Barley
(Hordeum vulgare)
Liliopsida Hv.5157 29
Wheat
(Triticum aestivum)
Liliopsida Ta.30569 29
Corn
(Zea mays)
Liliopsida Zm.5892 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 67 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU02127 29
  • 57.14 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13289 29
Species where no ortholog for MCCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MCCC2 Gene

ENSEMBL:
Gene Tree for MCCC2 (if available)
TreeFam:
Gene Tree for MCCC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCCC2: view image
Alliance of Genome Resources:
Additional Orthologs for MCCC2

Paralogs for MCCC2 Gene

Paralogs for MCCC2 Gene

(2) SIMAP similar genes for MCCC2 Gene using alignment to 4 proteins:

  • MCCB_HUMAN
  • D6R9R1_HUMAN
  • D6RD67_HUMAN
  • D6RDF7_HUMAN
genes like me logo Genes that share paralogs with MCCC2: view

Variants for MCCC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCCC2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1003884 Uncertain Significance: 3-methylcrotonyl CoA carboxylase 2 deficiency 71,646,232(+) T/C
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
MISSENSE
1006120 Uncertain Significance: 3-methylcrotonyl CoA carboxylase 2 deficiency 71,599,663(+) C/G
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)
MISSENSE
1009980 Uncertain Significance: 3-methylcrotonyl CoA carboxylase 2 deficiency 71,604,461(+) T/C
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr)
MISSENSE
1011673 Uncertain Significance: 3-methylcrotonyl CoA carboxylase 2 deficiency 71,656,831(+) A/G
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
MISSENSE
1013669 Uncertain Significance: 3-methylcrotonyl CoA carboxylase 2 deficiency 71,587,557(+) A/G
NM_022132.5(MCCC2):c.129+3A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MCCC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MCCC2 Gene

Variant ID Type Subtype PubMed ID
esv3605391 CNV loss 21293372
nsv1034703 CNV gain 25217958
nsv328811 CNV deletion 16902084
nsv830340 CNV loss 17160897

Variation tolerance for MCCC2 Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCCC2 Gene

Human Gene Mutation Database (HGMD)
MCCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCCC2
Leiden Open Variation Database (LOVD)
MCCC2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCCC2 Gene

Disorders for MCCC2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MCCC2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MCCC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCCB_HUMAN
  • 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. {ECO:0000269 PubMed:11170888, ECO:0000269 PubMed:11181649, ECO:0000269 PubMed:11406611, ECO:0000269 PubMed:16010683, ECO:0000269 PubMed:17968484, ECO:0000269 PubMed:21071250, ECO:0000269 PubMed:22150417, ECO:0000269 PubMed:22264772, ECO:0000269 PubMed:22642865, ECO:0000269 PubMed:25382614, ECO:0000269 PubMed:27601257}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MCCC2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MCCC2: view

No data available for Genatlas for MCCC2 Gene

Publications for MCCC2 Gene

  1. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 22264772) Morscher RJ … Baumgartner MR (Molecular genetics and metabolism 2012) 3 4 72
  2. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 22150417) Cho SY … Jin DK (Clinical genetics 2012) 3 4 72
  3. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 17968484) Uematsu M … Ohura T (Journal of human genetics 2007) 3 4 72
  4. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 11181649) Baumgartner MR … Valle D (The Journal of clinical investigation 2001) 3 4 72
  5. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID: 11170888) Gallardo ME … Peñalva MA (American journal of human genetics 2001) 3 4 72

Products for MCCC2 Gene

Sources for MCCC2 Gene