PDHA2 (pyruvate dehydrogenase E1 subunit alpha 2)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5161
Gene name Gene Name - the full gene name approved by the HGNC.
Pyruvate dehydrogenase E1 subunit alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDHA2
Synonyms (NCBI Gene) Gene synonyms aliases
PDHAL, SPGF70
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q22.3
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs200969445 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(8)
miRTarBase ID miRNA Experiments Reference
MIRT000170 hsa-miR-21-5p Quantitative proteomic approach 19253296
MIRT029395 hsa-miR-26b-5p Microarray 19088304
MIRT2590471 hsa-miR-4461 CLIP-seq
MIRT2590472 hsa-miR-543 CLIP-seq
MIRT2590473 hsa-miR-591 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0004739 Function Pyruvate dehydrogenase (acetyl-transferring) activity IBA
GO:0004739 Function Pyruvate dehydrogenase (acetyl-transferring) activity IDA 16436377
GO:0004739 Function Pyruvate dehydrogenase (acetyl-transferring) activity IEA
GO:0004739 Function Pyruvate dehydrogenase (acetyl-transferring) activity TAS 2249846
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
179061 8807 ENSG00000163114
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID P29803
Protein name Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial (EC 1.2.4.1) (PDHE1-A type II)
Protein function The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00676 E1_dh 63 → 360 Dehydrogenase E1 component Family
Tissue specificity TISSUE SPECIFICITY: Testis. Expressed in postmeiotic spermatogenic cells. {ECO:0000269|PubMed:22750801}.
Sequence
Sequence length 388
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Azoospermia azoospermia rs200969445 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Spermatogenic Failure spermatogenic failure 70 N/A N/A GenCC
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 35172124
digital ulcers Associate 29581481
Infertility Male Associate 29581481
Mitochondrial Diseases Associate 33615715
Renal Insufficiency Associate 33615715