Gene Gene information from NCBI Gene database.
Entrez ID 92259
Gene name Alpha-ketoglutarate dehydrogenase subunit 4
Gene symbol KGD4
Synonyms (NCBI Gene)
DC47MRP-S36MRPS36
Chromosome 5
Chromosome location 5q13.2
miRNA miRNA information provided by mirtarbase database.
108
miRTarBase ID miRNA Experiments Reference
MIRT1160439 hsa-miR-106a CLIP-seq
MIRT1160440 hsa-miR-106b CLIP-seq
MIRT1160441 hsa-miR-1257 CLIP-seq
MIRT1160442 hsa-miR-17 CLIP-seq
MIRT1160443 hsa-miR-20a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion ISS
GO:0005743 Component Mitochondrial inner membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611996 16631 ENSG00000134056
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P82909
Protein name Alpha-ketoglutarate dehydrogenase component 4 (Alpha-ketoglutarate dehydrogenase subunit 4)
Protein function Molecular adapter that is necessary to form a stable 2-oxoglutarate dehydrogenase enzyme complex (OGDHC). Enables the specific recruitment of E3 subunit to E2 subunit in the 2-oxoglutarate dehydrogenase complex (OGDHC). {ECO:0000250|UniProtKB:Q9
Family and domains
Sequence
MMGSKMASASRVVQVVKPHTPLIRFPDRRDNPKPNVSEALRSAGLPSHSSVISQHSKGSK
SPDLLMYQGPPDTAEIIKTLPQKYRRKLVSQEEMEFIQRGGPE
Sequence length 103
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LEIGH SYNDROME GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Prostatic Neoplasms Prostatic neoplasm Pubtator 22102698 Associate
★☆☆☆☆
Found in Text Mining only