Disease table of METHYLCROTONYLGLYCINURIA OMIM ID: PS210200

Gene-disease associations table

GeneAssociated with METHYLCROTONYLGLYCINURIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MCCC2ClinVar, OMIM, HUMSAVARHGNC link5q13.21PS210200
MCCC1ClinVar, OMIM, HUMSAVARHGNC link3q27.11PS210200

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MCCC2MCCC1Yes8HSPB2, DYNC1H1, HUWE1, IFIT1, PTEN, NTRK1, LGALS3, ECH1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
MCCC2MCCC1Yesbinding2ACACA, ACACB

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MCCC2MCCC1No1DYNC1H1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
MCCC1MCCC2yes, complexProbably they form a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Valine, leucine and isoleucine degradationhsa002807.092MCCC2, MCCC1
Metabolic pathwayshsa011002.492MCCC2, MCCC1

NET-GE enrichment

Term New enriched termICP valueGenes
Valine, leucine and isoleucine degradation (hsa00280) -7.090.0MCCC2, MCCC1
Amino acid metabolismNEW4.630.033MCCC2, MCCC1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Defects in biotin (Btn) metabolismR-HSA-33231699.812MCCC2, MCCC1
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.542MCCC2, MCCC1
Metabolism of amino acids and derivativesR-HSA-712915.42MCCC2, MCCC1
Branched-chain amino acid catabolismR-HSA-708958.892MCCC2, MCCC1
Diseases of metabolismR-HSA-56689146.572MCCC2, MCCC1
Defective HLCS causes multiple carboxylase deficiencyR-HSA-33715999.982MCCC2, MCCC1
MetabolismR-HSA-14307282.342MCCC2, MCCC1
Metabolism of vitamins and cofactorsR-HSA-1968546.542MCCC2, MCCC1
Defects in vitamin and cofactor metabolismR-HSA-32964828.522MCCC2, MCCC1
DiseaseR-HSA-16436853.332MCCC2, MCCC1
Biotin transport and metabolismR-HSA-1967809.522MCCC2, MCCC1

NET-GE enrichment

Term New enriched termICP valueGenes
Defects in biotin (Btn) metabolism (R-HSA-3323169) -9.810.0MCCC2, MCCC1
Defects in vitamin and cofactor metabolism (R-HSA-3296482) -8.520.0MCCC2, MCCC1
Biotin transport and metabolism (R-HSA-196780) -9.520.0MCCC2, MCCC1
Branched-chain amino acid catabolism (R-HSA-70895) -8.890.0MCCC2, MCCC1
Diseases of metabolism (R-HSA-5668914) -6.570.004MCCC2, MCCC1
Defective HLCS causes multiple carboxylase deficiency (R-HSA-3371599) -9.980.0MCCC2, MCCC1
Metabolism of amino acids and derivatives (R-HSA-71291) -5.40.019MCCC2, MCCC1
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849) -6.540.003MCCC2, MCCC1
Metabolism of vitamins and cofactors (R-HSA-196854) -6.540.003MCCC2, MCCC1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
purine ribonucleoside triphosphate binding (GO:0035639) 2.222MCCC2, MCCC1
ligase activity, forming carbon-carbon bonds (GO:0016885) 7.792MCCC2, MCCC1
binding (GO:0005488) 0.182MCCC2, MCCC1
heterocyclic compound binding (GO:1901363) 1.062MCCC2, MCCC1
nucleoside phosphate binding (GO:1901265) 1.962MCCC2, MCCC1
nucleoside binding (GO:0001882) 2.212MCCC2, MCCC1
nucleotide binding (GO:0000166) 1.962MCCC2, MCCC1
purine nucleoside binding (GO:0001883) 2.222MCCC2, MCCC1
ribonucleoside binding (GO:0032549) 2.222MCCC2, MCCC1
purine nucleotide binding (GO:0017076) 2.192MCCC2, MCCC1
ATP binding (GO:0005524) 2.432MCCC2, MCCC1
methylcrotonoyl-CoA carboxylase activity (GO:0004485) 9.052MCCC2, MCCC1
small molecule binding (GO:0036094) 1.892MCCC2, MCCC1
catalytic activity (GO:0003824) 1.052MCCC2, MCCC1
ligase activity (GO:0016874) 3.722MCCC2, MCCC1
adenyl nucleotide binding (GO:0030554) 2.42MCCC2, MCCC1
carbohydrate derivative binding (GO:0097367) 2.032MCCC2, MCCC1
organic cyclic compound binding (GO:0097159) 1.052MCCC2, MCCC1
CoA carboxylase activity (GO:0016421) 7.952MCCC2, MCCC1
adenyl ribonucleotide binding (GO:0032559) 2.412MCCC2, MCCC1
protein binding (GO:0005515) 0.462MCCC2, MCCC1
purine ribonucleotide binding (GO:0032555) 2.22MCCC2, MCCC1
purine ribonucleoside binding (GO:0032550) 2.222MCCC2, MCCC1
ribonucleotide binding (GO:0032553) 2.192MCCC2, MCCC1

NET-GE enrichment

Term New enriched termICP valueGenes
methylcrotonoyl-CoA carboxylase activity (GO:0004485) -9.050.0MCCC2, MCCC1
CoA carboxylase activity (GO:0016421) -7.950.0MCCC2, MCCC1
ligase activity, forming carbon-carbon bonds (GO:0016885) -7.790.0MCCC2, MCCC1
ligase activity (GO:0016874) -3.720.025MCCC2, MCCC1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
carboxylic acid metabolic process (GO:0019752) 3.122MCCC2, MCCC1
cellular amino acid catabolic process (GO:0009063) 5.372MCCC2, MCCC1
nitrogen compound metabolic process (GO:0006807) 1.132MCCC2, MCCC1
small molecule metabolic process (GO:0044281) 2.382MCCC2, MCCC1
small molecule catabolic process (GO:0044282) 3.992MCCC2, MCCC1
single-organism process (GO:0044699) 0.482MCCC2, MCCC1
single-organism catabolic process (GO:0044712) 3.212MCCC2, MCCC1
organic substance catabolic process (GO:1901575) 2.452MCCC2, MCCC1
cofactor metabolic process (GO:0051186) 3.912MCCC2, MCCC1
biotin metabolic process (GO:0006768) 7.092MCCC2, MCCC1
cellular amino acid metabolic process (GO:0006520) 4.222MCCC2, MCCC1
organic substance metabolic process (GO:0071704) 0.632MCCC2, MCCC1
water-soluble vitamin metabolic process (GO:0006767) 5.292MCCC2, MCCC1
vitamin metabolic process (GO:0006766) 4.972MCCC2, MCCC1
cellular process (GO:0009987) 0.262MCCC2, MCCC1
single-organism metabolic process (GO:0044710) 1.632MCCC2, MCCC1
monocarboxylic acid metabolic process (GO:0032787) 3.572MCCC2, MCCC1
single-organism cellular process (GO:0044763) 0.652MCCC2, MCCC1
metabolic process (GO:0008152) 0.582MCCC2, MCCC1
oxoacid metabolic process (GO:0043436) 3.122MCCC2, MCCC1
catabolic process (GO:0009056) 2.382MCCC2, MCCC1
cellular catabolic process (GO:0044248) 2.622MCCC2, MCCC1
primary metabolic process (GO:0044238) 0.692MCCC2, MCCC1
organonitrogen compound metabolic process (GO:1901564) 2.322MCCC2, MCCC1
organonitrogen compound catabolic process (GO:1901565) 3.912MCCC2, MCCC1
organic acid metabolic process (GO:0006082) 3.012MCCC2, MCCC1
carboxylic acid catabolic process (GO:0046395) 4.582MCCC2, MCCC1
organic acid catabolic process (GO:0016054) 4.442MCCC2, MCCC1
leucine catabolic process (GO:0006552) 8.122MCCC2, MCCC1
cellular metabolic process (GO:0044237) 0.692MCCC2, MCCC1
leucine metabolic process (GO:0006551) 8.122MCCC2, MCCC1
branched-chain amino acid metabolic process (GO:0009081) 6.642MCCC2, MCCC1
branched-chain amino acid catabolic process (GO:0009083) 6.782MCCC2, MCCC1

NET-GE enrichment

Term New enriched termICP valueGenes
water-soluble vitamin metabolic process (GO:0006767) -5.290.004MCCC2, MCCC1
vitamin metabolic process (GO:0006766) -4.970.003MCCC2, MCCC1
cellular amide metabolic process (GO:0043603) NEW3.230.016MCCC2, MCCC1
alpha-amino acid metabolic process (GO:1901605) NEW4.50.01MCCC2, MCCC1
organic acid catabolic process (GO:0016054) -4.440.033MCCC2, MCCC1
cellular amino acid metabolic process (GO:0006520) -4.220.039MCCC2, MCCC1
leucine catabolic process (GO:0006552) -8.120.0MCCC2, MCCC1
biotin metabolic process (GO:0006768) -7.090.0MCCC2, MCCC1
leucine metabolic process (GO:0006551) -8.120.0MCCC2, MCCC1
cellular amino acid catabolic process (GO:0009063) -5.370.003MCCC2, MCCC1
cofactor metabolic process (GO:0051186) -3.910.047MCCC2, MCCC1
sulfur compound metabolic process (GO:0006790) NEW3.870.019MCCC2, MCCC1
small molecule catabolic process (GO:0044282) -3.990.013MCCC2, MCCC1
carboxylic acid catabolic process (GO:0046395) -4.580.033MCCC2, MCCC1
monocarboxylic acid metabolic process (GO:0032787) -3.570.044MCCC2, MCCC1
branched-chain amino acid metabolic process (GO:0009081) -6.640.0MCCC2, MCCC1
branched-chain amino acid catabolic process (GO:0009083) -6.780.0MCCC2, MCCC1
alpha-amino acid catabolic process (GO:1901606) NEW5.540.007MCCC2, MCCC1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62MCCC2, MCCC1
organelle lumen (GO:0043233) 3.052MCCC2, MCCC1
cytosol (GO:0005829) 1.682MCCC2, MCCC1
cell part (GO:0044464) 0.112MCCC2, MCCC1
cytoplasmic part (GO:0044444) 0.822MCCC2, MCCC1
mitochondrion (GO:0005739) 2.422MCCC2, MCCC1
intracellular organelle part (GO:0044446) 0.812MCCC2, MCCC1
intracellular organelle lumen (GO:0070013) 3.052MCCC2, MCCC1
intracellular organelle (GO:0043229) 0.512MCCC2, MCCC1
mitochondrial part (GO:0044429) 2.922MCCC2, MCCC1
membrane-enclosed lumen (GO:0031974) 3.052MCCC2, MCCC1
mitochondrial matrix (GO:0005759) 4.032MCCC2, MCCC1
intracellular part (GO:0044424) 0.282MCCC2, MCCC1
membrane-bounded organelle (GO:0043227) 0.472MCCC2, MCCC1
organelle (GO:0043226) 0.42MCCC2, MCCC1
organelle part (GO:0044422) 0.792MCCC2, MCCC1

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial matrix (GO:0005759) -4.030.004MCCC2, MCCC1
intracellular organelle lumen (GO:0070013) -3.050.02MCCC2, MCCC1
mitochondrial part (GO:0044429) -2.920.042MCCC2, MCCC1
membrane-enclosed lumen (GO:0031974) -3.050.029MCCC2, MCCC1
organelle lumen (GO:0043233) -3.050.024MCCC2, MCCC1