Disease table of MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY OMIM ID: 609015

Gene-disease associations table

GeneAssociated with MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
HADHBClinVar, OMIM, HUMSAVARHGNC link2p23.31609015
HADHAClinVar, OMIM, HUMSAVARHGNC link2p23.32609015, 609016

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
2p23.32HADHA, HADHB
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
2p232HADHA, HADHB
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
2p22HADHA, HADHB
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
2p2HADHA, HADHB
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
22HADHA, HADHB
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
HADHBHADHAYes29CSNK2A2, RTF1, ATG101, ATP1B1, PPP6R1, GABARAPL2, KSR1, TUBG1, VPU, GABARAPL1, MAP1LC3B, MCM2, SKI, DDA1, IQCB1, PAN2, SQSTM1, EDC4, MED23, ATF2, UBC, MAP1LC3A, NAF1, CDK2, MED4, LEO1, NTRK1, MYC, CUL7

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
HADHBHADHAYesbinding1UBC

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
HADHBHADHAYes0

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

Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Fatty acid elongationhsa000628.182HADHA, HADHB
Fatty acid metabolismhsa012127.072HADHA, HADHB
Metabolic pathwayshsa011002.492HADHA, HADHB
Fatty acid degradationhsa000717.152HADHA, HADHB
Valine, leucine and isoleucine degradationhsa002807.092HADHA, HADHB

NET-GE enrichment

Term New enriched termICP valueGenes
Lysine degradation (hsa00310) NEW7.010.003HADHA, HADHB
Fatty acid elongation (hsa00062) -8.180.0HADHA, HADHB
Fatty acid degradation (hsa00071) -7.150.001HADHA, HADHB
Metabolism of other amino acidsNEW5.870.012HADHA, HADHB
Carbon metabolism (hsa01200) NEW6.030.01HADHA, HADHB
Valine, leucine and isoleucine degradation (hsa00280) -7.090.002HADHA, HADHB
Amino acid metabolismNEW4.630.031HADHA, HADHB
Propanoate metabolism (hsa00640) NEW7.810.001HADHA, HADHB
Tryptophan metabolism (hsa00380) NEW7.340.002HADHA, HADHB
Fatty acid metabolism (hsa01212) -7.070.001HADHA, HADHB
Butanoate metabolism (hsa00650) NEW7.960.0HADHA, HADHB
beta-Alanine metabolism (hsa00410) NEW7.720.001HADHA, HADHB
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Mitochondrial Fatty Acid Beta-OxidationR-HSA-772899.082HADHA, HADHB
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoAR-HSA-7734610.662HADHA, HADHB
Beta oxidation of hexanoyl-CoA to butanoyl-CoAR-HSA-7735010.662HADHA, HADHB
Beta oxidation of myristoyl-CoA to lauroyl-CoAR-HSA-7728511.42HADHA, HADHB
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoAR-HSA-7731010.662HADHA, HADHB
Beta oxidation of octanoyl-CoA to hexanoyl-CoAR-HSA-7734810.662HADHA, HADHB
Beta oxidation of palmitoyl-CoA to myristoyl-CoAR-HSA-7730511.42HADHA, HADHB
mitochondrial fatty acid beta-oxidation of saturated fatty acidsR-HSA-772869.982HADHA, HADHB
Acyl chain remodeling of CLR-HSA-148279810.42HADHA, HADHB
Glycerophospholipid biosynthesisR-HSA-14832066.462HADHA, HADHB
MetabolismR-HSA-14307282.342HADHA, HADHB
Fatty acid, triacylglycerol, and ketone body metabolismR-HSA-5357345.442HADHA, HADHB
Metabolism of lipids and lipoproteinsR-HSA-5568333.792HADHA, HADHB
Phospholipid metabolismR-HSA-14832575.832HADHA, HADHB

NET-GE enrichment

Term New enriched termICP valueGenes
Mitochondrial Fatty Acid Beta-Oxidation (R-HSA-77289) -9.080.0HADHA, HADHB
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA (R-HSA-77346) -10.660.0HADHA, HADHB
Beta oxidation of hexanoyl-CoA to butanoyl-CoA (R-HSA-77350) -10.660.0HADHA, HADHB
Beta oxidation of myristoyl-CoA to lauroyl-CoA (R-HSA-77285) -11.40.0HADHA, HADHB
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA (R-HSA-77310) -10.660.0HADHA, HADHB
Beta oxidation of octanoyl-CoA to hexanoyl-CoA (R-HSA-77348) -10.660.0HADHA, HADHB
Phospholipid metabolism (R-HSA-1483257) -5.830.012HADHA, HADHB
mitochondrial fatty acid beta-oxidation of saturated fatty acids (R-HSA-77286) -9.980.0HADHA, HADHB
Acyl chain remodeling of CL (R-HSA-1482798) -10.40.0HADHA, HADHB
Glycerophospholipid biosynthesis (R-HSA-1483206) -6.460.002HADHA, HADHB
Fatty acid, triacylglycerol, and ketone body metabolism (R-HSA-535734) -5.440.029HADHA, HADHB
Beta oxidation of palmitoyl-CoA to myristoyl-CoA (R-HSA-77305) -11.40.0HADHA, HADHB
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
oxidoreductase activity, acting on CH-OH group of donors (GO:0016614) 4.832HADHA, HADHB
protein binding (GO:0005515) 0.462HADHA, HADHB
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616) 5.02HADHA, HADHB
catalytic activity (GO:0003824) 1.052HADHA, HADHB
carbon-oxygen lyase activity (GO:0016835) 5.462HADHA, HADHB
lyase activity (GO:0016829) 4.532HADHA, HADHB
long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509) 8.642HADHA, HADHB
transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747) 4.372HADHA, HADHB
C-acyltransferase activity (GO:0016408) 7.12HADHA, HADHB
enoyl-CoA hydratase activity (GO:0004300) 8.132HADHA, HADHB
transferase activity (GO:0016740) 1.952HADHA, HADHB
transferase activity, transferring acyl groups (GO:0016746) 4.22HADHA, HADHB
binding (GO:0005488) 0.182HADHA, HADHB
acetyl-CoA C-acyltransferase activity (GO:0003988) 7.952HADHA, HADHB
organic cyclic compound binding (GO:0097159) 1.052HADHA, HADHB
hydro-lyase activity (GO:0016836) 5.812HADHA, HADHB
3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857) 7.542HADHA, HADHB
heterocyclic compound binding (GO:1901363) 1.062HADHA, HADHB
oxidoreductase activity (GO:0016491) 3.122HADHA, HADHB

NET-GE enrichment

Term New enriched termICP valueGenes
sulfur compound binding (GO:1901681) NEW4.320.005HADHA, HADHB
coenzyme binding (GO:0050662) NEW4.530.028HADHA, HADHB
3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857) -7.540.0HADHA, HADHB
oxidoreductase activity, acting on CH-OH group of donors (GO:0016614) -4.830.002HADHA, HADHB
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616) -5.00.008HADHA, HADHB
carbon-oxygen lyase activity (GO:0016835) -5.460.001HADHA, HADHB
hydro-lyase activity (GO:0016836) -5.810.0HADHA, HADHB
lyase activity (GO:0016829) -4.530.004HADHA, HADHB
long-chain-enoyl-CoA hydratase activity (GO:0016508) NEW8.640.0HADHA, HADHB
fatty-acyl-CoA binding (GO:0000062) NEW6.30.0HADHA, HADHB
transferase activity, transferring acyl groups (GO:0016746) -4.20.007HADHA, HADHB
enoyl-CoA hydratase activity (GO:0004300) -8.130.0HADHA, HADHB
cofactor binding (GO:0048037) NEW4.160.01HADHA, HADHB
transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747) -4.370.019HADHA, HADHB
acetyl-CoA C-acyltransferase activity (GO:0003988) -7.950.0HADHA, HADHB
NAD binding (GO:0051287) NEW5.770.001HADHA, HADHB
C-acyltransferase activity (GO:0016408) -7.10.0HADHA, HADHB
long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509) -8.640.0HADHA, HADHB
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
lipid oxidation (GO:0034440) 5.472HADHA, HADHB
fatty acid metabolic process (GO:0006631) 4.032HADHA, HADHB
glycerophospholipid metabolic process (GO:0006650) 4.132HADHA, HADHB
fatty acid beta-oxidation (GO:0006635) 5.782HADHA, HADHB
cardiolipin metabolic process (GO:0032048) 7.092HADHA, HADHB
carboxylic acid metabolic process (GO:0019752) 3.122HADHA, HADHB
cellular catabolic process (GO:0044248) 2.622HADHA, HADHB
fatty acid catabolic process (GO:0009062) 5.482HADHA, HADHB
small molecule metabolic process (GO:0044281) 2.382HADHA, HADHB
small molecule catabolic process (GO:0044282) 3.992HADHA, HADHB
cellular lipid catabolic process (GO:0044242) 4.732HADHA, HADHB
glycerolipid metabolic process (GO:0046486) 3.912HADHA, HADHB
single-organism process (GO:0044699) 0.482HADHA, HADHB
single-organism catabolic process (GO:0044712) 3.212HADHA, HADHB
organic substance catabolic process (GO:1901575) 2.452HADHA, HADHB
catabolic process (GO:0009056) 2.382HADHA, HADHB
lipid catabolic process (GO:0016042) 4.212HADHA, HADHB
organic substance metabolic process (GO:0071704) 0.632HADHA, HADHB
phospholipid metabolic process (GO:0006644) 3.882HADHA, HADHB
lipid metabolic process (GO:0006629) 2.682HADHA, HADHB
cellular process (GO:0009987) 0.262HADHA, HADHB
single-organism metabolic process (GO:0044710) 1.632HADHA, HADHB
monocarboxylic acid metabolic process (GO:0032787) 3.572HADHA, HADHB
single-organism cellular process (GO:0044763) 0.652HADHA, HADHB
metabolic process (GO:0008152) 0.582HADHA, HADHB
monocarboxylic acid catabolic process (GO:0072329) 5.262HADHA, HADHB
oxoacid metabolic process (GO:0043436) 3.122HADHA, HADHB
fatty acid oxidation (GO:0019395) 5.482HADHA, HADHB
cellular lipid metabolic process (GO:0044255) 2.922HADHA, HADHB
lipid modification (GO:0030258) 4.372HADHA, HADHB
oxidation-reduction process (GO:0055114) 2.912HADHA, HADHB
primary metabolic process (GO:0044238) 0.692HADHA, HADHB
organic acid metabolic process (GO:0006082) 3.012HADHA, HADHB
carboxylic acid catabolic process (GO:0046395) 4.582HADHA, HADHB
organic acid catabolic process (GO:0016054) 4.442HADHA, HADHB
cellular metabolic process (GO:0044237) 0.692HADHA, HADHB
cardiolipin acyl-chain remodeling (GO:0035965) 7.942HADHA, HADHB
phosphate-containing compound metabolic process (GO:0006796) 2.162HADHA, HADHB
phosphorus metabolic process (GO:0006793) 2.152HADHA, HADHB
organophosphate metabolic process (GO:0019637) 3.042HADHA, HADHB
phosphatidylglycerol metabolic process (GO:0046471) 6.292HADHA, HADHB

NET-GE enrichment

Term New enriched termICP valueGenes
lipid oxidation (GO:0034440) -5.470.001HADHA, HADHB
fatty acid metabolic process (GO:0006631) -4.030.014HADHA, HADHB
glycerophospholipid metabolic process (GO:0006650) -4.130.011HADHA, HADHB
fatty acid beta-oxidation (GO:0006635) -5.780.001HADHA, HADHB
cardiolipin metabolic process (GO:0032048) -7.090.0HADHA, HADHB
fatty acid catabolic process (GO:0009062) -5.480.001HADHA, HADHB
small molecule catabolic process (GO:0044282) -3.990.013HADHA, HADHB
cellular lipid catabolic process (GO:0044242) -4.730.003HADHA, HADHB
glycerolipid biosynthetic process (GO:0045017) NEW4.530.008HADHA, HADHB
organophosphate biosynthetic process (GO:0090407) NEW3.670.04HADHA, HADHB
lipid catabolic process (GO:0016042) -4.210.01HADHA, HADHB
phospholipid metabolic process (GO:0006644) -3.880.018HADHA, HADHB
monocarboxylic acid metabolic process (GO:0032787) -3.570.042HADHA, HADHB
monocarboxylic acid catabolic process (GO:0072329) -5.260.005HADHA, HADHB
fatty acid oxidation (GO:0019395) -5.480.003HADHA, HADHB
glycerolipid metabolic process (GO:0046486) -3.910.018HADHA, HADHB
lipid modification (GO:0030258) -4.370.015HADHA, HADHB
lipid biosynthetic process (GO:0008610) NEW3.490.046HADHA, HADHB
phospholipid biosynthetic process (GO:0008654) NEW4.390.03HADHA, HADHB
carboxylic acid catabolic process (GO:0046395) -4.580.038HADHA, HADHB
organic acid catabolic process (GO:0016054) -4.440.038HADHA, HADHB
cardiolipin acyl-chain remodeling (GO:0035965) -7.940.0HADHA, HADHB
glycerophospholipid biosynthetic process (GO:0046474) NEW4.620.006HADHA, HADHB
phosphatidylglycerol metabolic process (GO:0046471) -6.290.0HADHA, HADHB
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organelle membrane (GO:0031090) 1.972HADHA, HADHB
intracellular non-membrane-bounded organelle (GO:0043232) 1.762HADHA, HADHB
cell part (GO:0044464) 0.112HADHA, HADHB
membrane (GO:0016020) 0.682HADHA, HADHB
organelle inner membrane (GO:0019866) 3.562HADHA, HADHB
cytoplasmic part (GO:0044444) 0.822HADHA, HADHB
mitochondrion (GO:0005739) 2.422HADHA, HADHB
nucleoid (GO:0009295) 5.972HADHA, HADHB
intracellular organelle part (GO:0044446) 0.812HADHA, HADHB
mitochondrial inner membrane (GO:0005743) 3.652HADHA, HADHB
intracellular organelle (GO:0043229) 0.512HADHA, HADHB
non-membrane-bounded organelle (GO:0043228) 1.762HADHA, HADHB
mitochondrial part (GO:0044429) 2.922HADHA, HADHB
intracellular part (GO:0044424) 0.282HADHA, HADHB
mitochondrial membrane (GO:0031966) 3.312HADHA, HADHB
mitochondrial nucleoid (GO:0042645) 6.022HADHA, HADHB
membrane-bounded organelle (GO:0043227) 0.472HADHA, HADHB
organelle (GO:0043226) 0.42HADHA, HADHB
organelle part (GO:0044422) 0.792HADHA, HADHB
intracellular membrane-bounded organelle (GO:0043231) 0.62HADHA, HADHB

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial nucleoid (GO:0042645) -6.020.0HADHA, HADHB
fatty acid beta-oxidation multienzyme complex (GO:0036125) NEW9.80.0HADHA, HADHB
organelle inner membrane (GO:0019866) -3.560.015HADHA, HADHB
mitochondrial membrane (GO:0031966) -3.310.026HADHA, HADHB
mitochondrial inner membrane (GO:0005743) -3.650.042HADHA, HADHB
mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507) NEW9.80.0HADHA, HADHB
nucleoid (GO:0009295) -5.970.0HADHA, HADHB