Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23417
Gene name Gene Name - the full gene name approved by the HGNC.
Malonyl-CoA decarboxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MLYCD
Synonyms (NCBI Gene) Gene synonyms aliases
MCD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCD
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded pr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28937908 T>C Pathogenic Missense variant, coding sequence variant
rs104894528 C>G Pathogenic Coding sequence variant, stop gained
rs121908081 G>A Pathogenic Coding sequence variant, missense variant
rs138675420 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Synonymous variant, coding sequence variant, missense variant
rs201973830 G>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017783 hsa-miR-335-5p Microarray 18185580
MIRT1152672 hsa-miR-1200 CLIP-seq
MIRT1152673 hsa-miR-1203 CLIP-seq
MIRT1152674 hsa-miR-1228 CLIP-seq
MIRT1152675 hsa-miR-1273e CLIP-seq
Transcription factors
Transcription factor Regulation Reference
PPARA Unknown 16434556
PPARGC1A Unknown 16434556
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002931 Process Response to ischemia ISS
GO:0005737 Component Cytoplasm IDA 10455107
GO:0005739 Component Mitochondrion IDA 10417274
GO:0005759 Component Mitochondrial matrix IBA 21873635
GO:0005759 Component Mitochondrial matrix ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606761 7150 ENSG00000103150
Protein
UniProt ID O95822
Protein name Malonyl-CoA decarboxylase, mitochondrial (MCD) (EC 4.1.1.9)
Protein function Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acid
PDB 2YGW , 4F0X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17408 MCD_N 95 190 Malonyl-CoA decarboxylase N-terminal domain Domain
PF05292 MCD 193 457 Malonyl-CoA decarboxylase C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fibroblasts and hepatoblastoma cells (at protein level). Expressed strongly in heart, liver, skeletal muscle, kidney and pancreas. Expressed in myotubes. Expressed weakly in brain, placenta, spleen, thymus, testis, ovary a
Sequence
Sequence length 493
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Neuroblastoma Neuroblastoma Loss of SNAI2 function reduces self-renewal, 3D invasion as well as metastatic spread in vivo, while strongly sensitizing neuroblastoma cells to RA-induced growth inhibition. GWAS, CBGDA
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Aortic Valve Disease Associate 27250500
Carcinoma Renal Cell Inhibit 37729394
Death Sudden Cardiac Associate 22661490
Malonic aciduria Associate 32602666, 34884438, 8259873
Malonic aciduria Inhibit 34884438
Mitral Valve Insufficiency Associate 27250500
Neoplasms Inhibit 37729394
Osteosarcoma Associate 37976137
Retinoblastoma Associate 37603355