Details for: PDHA2

Gene ID: 5161

Symbol: PDHA2

Ensembl ID: ENSG00000163114

Description: pyruvate dehydrogenase E1 subunit alpha 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 6.69
    Marker Score: 8276
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 5.08
    Marker Score: 32735
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 3.76
    Marker Score: 6842
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.17
    Marker Score: 3186
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.63
    Marker Score: 10807
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.59
    Marker Score: 927
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.25
    Marker Score: 7573.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 1.22
    Marker Score: 3660
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.21
    Marker Score: 2291
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 1.06
    Marker Score: 32712
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48042
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2410
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5348
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.82
    Marker Score: 744
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.81
    Marker Score: 489
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.81
    Marker Score: 1645
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 406
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.55
    Marker Score: 8545
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.54
    Marker Score: 2263
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.52
    Marker Score: 5245
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.48
    Marker Score: 286
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.48
    Marker Score: 265
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.48
    Marker Score: 2862
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.35
    Marker Score: 169
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.29
    Marker Score: 319
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.22
    Marker Score: 99
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.14
    Marker Score: 36
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.11
    Marker Score: 36
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.11
    Marker Score: 32
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.11
    Marker Score: 35
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.11
    Marker Score: 150
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.11
    Marker Score: 34
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.1
    Marker Score: 402
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.1
    Marker Score: 36
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.1
    Marker Score: 35
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.07
    Marker Score: 87
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.06
    Marker Score: 27
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.06
    Marker Score: 33
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.06
    Marker Score: 119
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.06
    Marker Score: 32
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.05
    Marker Score: 35
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.05
    Marker Score: 51
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.05
    Marker Score: 36
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.05
    Marker Score: 24
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.04
    Marker Score: 27
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 0.04
    Marker Score: 35
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.04
    Marker Score: 22
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.03
    Marker Score: 36
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.03
    Marker Score: 99
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.03
    Marker Score: 30
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.03
    Marker Score: 34
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.03
    Marker Score: 31
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.03
    Marker Score: 36
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.03
    Marker Score: 35
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.03
    Marker Score: 23
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.02
    Marker Score: 43
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.02
    Marker Score: 57
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.02
    Marker Score: 36
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.02
    Marker Score: 29
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.01
    Marker Score: 146
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.01
    Marker Score: 24
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.01
    Marker Score: 35
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.01
    Marker Score: 18
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.01
    Marker Score: 34.5
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.01
    Marker Score: 32
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0
    Marker Score: 31
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0
    Marker Score: 36
  • Cell Name: mural cell (CL0008034)
    Fold Change: 0
    Marker Score: 36

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Other Information

**Key characteristics:** * The PDHA2 gene is located on chromosome 15q21.1. * It is a single gene with a length of approximately 10.7 kb. * It encodes a protein of 431 amino acids. * The protein is expressed in both the nucleus and mitochondria of cells. **Pathways and functions:** * The PDHA2 gene is involved in multiple metabolic pathways, including the acetyl-CoA biosynthetic process, glucose metabolic process, glyoxylate metabolism, and glycine degradation. * It is a key enzyme in the citric acid (TCA) cycle, where it participates in the conversion of pyruvate to acetyl-CoA. * PDHA2 also plays a role in the regulation of pyruvate metabolism, as it is involved in the control of the pyruvate dehydrogenase complex. **Clinical significance:** * Mutations in the PDHA2 gene have been linked to several human diseases, including pyruvateuria, lactic acidosis, and diabetes. * These diseases are characterized by abnormal levels of pyruvate in the blood or urine. * PDHA2 mutations can also affect the expression of other genes involved in the pyruvate metabolic pathway, which could lead to further complications of these diseases. **Conclusion:** The PDHA2 gene is an important protein involved in multiple metabolic pathways. Its expression and activity are regulated by various factors, including the availability of oxygen and nutrients. Mutations in the PDHA2 gene can have significant clinical implications, highlighting its importance in maintaining normal metabolic homeostasis.

Genular Protein ID: 1546917137

Symbol: ODPAT_HUMAN

Name: Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial

UniProtKB Accession Codes:

P29803 B2R9Q3 Q0VDI5 Q4VC02 Q6NXQ1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 6 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 9 EPD 1 Ensembl 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 4 RefSeq 1 Rhea 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2249846

Title: A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4.

PubMed ID: 2249846

DOI: 10.1016/0888-7543(90)90275-y

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14638692

Title: 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.

PubMed ID: 14638692

DOI: 10.1074/jbc.m308172200

PubMed ID: 16436377

Title: Characterization of testis-specific isoenzyme of human pyruvate dehydrogenase.

PubMed ID: 16436377

DOI: 10.1074/jbc.m511481200

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22750801

Title: Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1alpha subunit genes in human spermatogenesis.

PubMed ID: 22750801

DOI: 10.1016/j.gene.2012.06.068

PubMed ID: 29581481

Title: Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.

PubMed ID: 29581481

DOI: 10.1038/s41431-018-0121-7

PubMed ID: 31536960

Title: Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.

PubMed ID: 31536960

DOI: 10.1016/j.isci.2019.08.057

PubMed ID: 35172124

Title: Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

PubMed ID: 35172124

DOI: 10.1016/j.ajhg.2022.01.011

Sequence Information:

  • Length: 388
  • Mass: 42933
  • Checksum: 075B6CFF6DC73CC5
  • Sequence:
    • MLAAFISRVL RRVAQKSARR VLVASRNSSN DATFEIKKCD LYLLEEGPPV TTVLTRAEGL 
KYYRMMLTVR RMELKADQLY KQKFIRGFCH LCDGQEACCV GLEAGINPSD HVITSYRAHG 
VCYTRGLSVR SILAELTGRR GGCAKGKGGS MHMYTKNFYG GNGIVGAQGP LGAGIALACK 
YKGNDEICLT LYGDGAANQG QIAEAFNMAA LWKLPCVFIC ENNLYGMGTS TERAAASPDY 
YKRGNFIPGL KVDGMDVLCV REATKFAANY CRSGKGPILM ELQTYRYHGH SMSDPGVSYR 
TREEIQEVRS KRDPIIILQD RMVNSKLATV EELKEIGAEV RKEIDDAAQF ATTDPEPHLE 
ELGHHIYSSD SSFEVRGANP WIKFKSVS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.