Property Summary

NCBI Gene PubMed Count 17
PubMed Score 13.86
PubTator Score 10.17

Knowledge Summary


No data available


  Disease (2)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
X-linked hypophosphatemic rickets 1 3.243 1.6

Gene RIF (4)

22750801 Expression of the PDHA1 gene was found in all somatic cells, whereas expression of PDHA2 gene was restricted to germ cells. The switch from X-linked to autosomic gene expression occurred in spermatocytes.
22675509 Methylation of the PDHA2 coding region can inhibit gene transcription.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20005141 it is the full demethylation of the CpG island located in the coding region that seems to play a crucial role upon PDHA2 gene transcription in testis.

AA Sequence

ATTDPEPHLEELGHHIYSSDSSFEVRGANPWIKFKSVS                                    351 - 388

Text Mined References (20)

PMID Year Title
22750801 2012 Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1? subunit genes in human spermatogenesis.
22675509 2012 Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20005141 2010 Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16436377 2006 Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14638692 2004 Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11673873 2001 Differential effects of two mutations at arginine-234 in the alpha subunit of human pyruvate dehydrogenase.
11577086 2001 Activation and mitochondrial translocation of protein kinase Cdelta are necessary for insulin stimulation of pyruvate dehydrogenase complex activity in muscle and liver cells.
11181995 2001 The sequence of the human genome.
10542321 1999 Characterization of the regulatory region of the human testis-specific form of the pyruvate dehydrogenase alpha-subunit (PDHA-2) gene.
7864652 1995 Recombinant expression and evaluation of the lipoyl domains of the dihydrolipoyl acetyltransferase component of the human pyruvate dehydrogenase complex.
2249846 1990 A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4.
2122529 1990 Pyruvate dehydrogenase E1 alpha subunit genes in the mouse: mapping and comparison with human homologs.
1581363 1992 Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes.