PDHA2 pyruvate dehydrogenase E1 subunit alpha 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDHA2provided by HGNC
Official Full Name: pyruvate dehydrogenase E1 subunit alpha 2provided by HGNC
Primary source: HGNC:HGNC:8807
See related: Ensembl:ENSG00000163114 MIM:179061; AllianceGenome:HGNC:8807
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDHAL; SPGF70
Summary: Enables pyruvate dehydrogenase (NAD+) activity and pyruvate dehydrogenase (acetyl-transferring) activity. Involved in pyruvate metabolic process. Located in mitochondrion and nucleolus. Implicated in spermatogenic failure 70. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: mouse all
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Genomic context

Location:: 4q22.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (95840093..95841464)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (99155293..99156664)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (96761244..96762615)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our findings show that also recessive complex digit malformation can be caused by BMPR1B variant and not all biallelic BMPR1B variants cause acromesomelic dysplasia. PDHA2 is a novel candidate gene for male infertility; the protein product is a mitochondrial enzyme with highest expression in ejaculated sperm.
Title: Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
Our results indicated that miR215p targeted PDHA1 to regulate a metabolic switch and cancer progression in gastric cancer, and reveal the potential role of the miR215p/PDHA1 axis in gastric cancer treatment
Title: miR‑21‑5p targets PDHA1 to regulate glycolysis and cancer progression in gastric cancer.
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.
Title: Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis.
Methylation of the PDHA2 coding region can inhibit gene transcription.
Title: Demethylation of the coding region triggers the activation of the human testis-specific PDHA2 gene in somatic tissues.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
Title: Human testis-specific PDHA2 gene: methylation status of a CpG island in the open reading frame correlates with transcriptional activity.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure 70 MedGen: C5676962 OMIM: 619828 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M86808 (e-PCR)
- UniSTS:45651

RW2 (e-PCR)
- UniSTS:241566

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pyruvate dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables pyruvate dehydrogenase (acetyl-transferring) activity	IBA Inferred from Biological aspect of Ancestor more info
enables pyruvate dehydrogenase (acetyl-transferring) activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acetyl-CoA biosynthetic process from pyruvate	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within acetyl-CoA biosynthetic process from pyruvate	IC Inferred by Curator more info	PubMed
involved_in acetyl-CoA biosynthetic process from pyruvate	ISS Inferred from Sequence or Structural Similarity more info
involved_in glucose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in pyruvate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in tricarboxylic acid cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
part_of pyruvate dehydrogenase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial

Names: PDHE1-A type II; pyruvate dehydrogenase (lipoamide) alpha 2; pyruvate dehydrogenase E1 alpha 2 subunit; pyruvate dehydrogenase alpha 2; pyruvate dehydrogenase, E1-alpha polypeptide, testis specific

NP_005381.1

EC 1.2.4.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005390.5 → NP_005381.1 pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor

See identical proteins and their annotated locations for NP_005381.1

Status: VALIDATED

Source sequence(s)

BC030697

Consensus CDS

CCDS3644.1

UniProtKB/Swiss-Prot

B2R9Q3, P29803, Q0VDI5, Q4VC02, Q6NXQ1

Related

ENSP00000295266.4, ENST00000295266.6

Conserved Domains (1) summary

TIGR03182
Location:56 → 368

PDH_E1_alph_y; pyruvate dehydrogenase E1 component, alpha subunit