DLAT Gene (Protein Coding)

Dihydrolipoamide S-Acetyltransferase

GC11P112024
GIFtS:
47
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Di... See more...

Aliases for DLAT Gene

Aliases for DLAT Gene

  • Dihydrolipoamide S-Acetyltransferase 2 3 5
  • PDC-E2 2 3 4
  • Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex, Mitochondrial 3 4
  • Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex 3 4
  • 70 KDa Mitochondrial Autoantigen Of Primary Biliary Cirrhosis 3 4
  • E2 Component Of Pyruvate Dehydrogenase Complex 2 3
  • Pyruvate Dehydrogenase Complex Component E2 3 4
  • M2 Antigen Complex 70 KDa Subunit 3 4
  • EC 2.3.1.12 4 51
  • PDCE2 3 4
  • DLTA 3 4
  • PBC 3 4
  • E2 2 3
  • Dihydrolipoyllysine-Residue Acetyltransferase 2
  • EC 2.3.1 51
  • DLAT 5

External Ids for DLAT Gene

Previous HGNC Symbols for DLAT Gene

  • DLTA

Previous GeneCards Identifiers for DLAT Gene

  • GC11P114248
  • GC11P113407
  • GC11P111929
  • GC11P111433
  • GC11P111401
  • GC11P107819
  • GC11P111895

Summaries for DLAT Gene

Entrez Gene Summary for DLAT Gene

  • This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]

GeneCards Summary for DLAT Gene

DLAT (Dihydrolipoamide S-Acetyltransferase) is a Protein Coding gene. Diseases associated with DLAT include Pyruvate Dehydrogenase E2 Deficiency and Pyruvate Dehydrogenase E1-Alpha Deficiency. Among its related pathways are Signaling by GPCR and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and dihydrolipoyllysine-residue acetyltransferase activity. An important paralog of this gene is PDHX.

UniProtKB/Swiss-Prot Summary for DLAT Gene

  • 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.

Gene Wiki entry for DLAT Gene

Additional gene information for DLAT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLAT Gene

Genomics for DLAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DLAT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLAT

Top Transcription factor binding sites by QIAGEN in the DLAT gene promoter:
  • CBF(2)
  • CBF-B
  • CBF-C
  • CP1A
  • Evi-1
  • Max1
  • MyoD
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for DLAT Gene

Latest Assembly
chr11:112,025,408-112,064,404
(GRCh38/hg38)
Size:
38,997 bases
Orientation:
Plus strand

Previous Assembly
chr11:111,896,132-111,935,128
(GRCh37/hg19 by Entrez Gene)
Size:
38,997 bases
Orientation:
Plus strand

chr11:111,895,538-111,935,114
(GRCh37/hg19 by Ensembl)
Size:
39,577 bases
Orientation:
Plus strand

Genomic View for DLAT Gene

Genes around DLAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLAT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DLAT Gene

Proteins for DLAT Gene

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  • Protein details for DLAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10515-ODP2_HUMAN
    Recommended name:
    Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
    Protein Accession:
    P10515
    Secondary Accessions:
    • Q16783
    • Q53EP3

    Protein attributes for DLAT Gene

    Size:
    647 amino acids
    Molecular mass:
    68997 Da
    Cofactor:
    Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088;
    Quaternary structure:
    • Part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (subunits PDH1A and PDHB, E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3) (PubMed:14638692). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules (PubMed:14638692, PubMed:20361979). Interacts with PDK2 and PDK3 (PubMed:15861126, PubMed:17532006, PubMed:17683942, PubMed:18387944). Interacts with SIRT4 (PubMed:25525879). Interacts with PDHB (PubMed:20160912).
    SequenceCaution:
    • Sequence=AAA62253.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAA62253.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLAT Gene

neXtProt entry for DLAT Gene

Protein Expression for DLAT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DLAT Gene

P10515:
  • DHRVVDGA
  • VTLSCDHR
  • AIINPPQ
  • SKQTIPH
  • VDVSVAVSTPAGLITPI
  • PHEFQGGTF
  • GTFTISN
  • DHRVVDG
  • NDFIIKASALAC
  • KAREGKL

Post-translational modifications for DLAT Gene

  • Delipoylated at Lys-132 and Lys-259 by SIRT4, delipoylation decreases the PHD complex activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLAT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DLAT Gene

Gene Families for DLAT Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DLAT Gene

InterPro:
Blocks:
  • Biotin/lipoyl attachment
  • 2-oxo acid dehydrogenase, acyltransferase component, lipoyl-binding
  • Catalytic domain of components of various dehydrogenase complexes
  • E3 binding domain
ProtoNet:

Suggested Antigen Peptide Sequences for DLAT Gene

GenScript: Design optimal peptide antigens:
  • Pyruvate dehydrogenase complex component E2 (ODP2_HUMAN)
  • cDNA FLJ32737 fis, clone TESTI2001269, highly similar to Homo sapiens dihydrolipoamide S-acetyltransferase, mRNA (Q86YI5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10515

UniProtKB/Swiss-Prot:

ODP2_HUMAN :
  • Belongs to the 2-oxoacid dehydrogenase family.
Family:
  • Belongs to the 2-oxoacid dehydrogenase family.
genes like me logo Genes that share domains with DLAT: view

Function for DLAT Gene

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  1. Animal Models for research
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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for DLAT Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-N(6)-dihydrolipoyl-L-lysyl-[protein] + acetyl-CoA = (R)-N(6)-(S(8)-acetyldihydrolipoyl)-L-lysyl-[protein] + CoA; Xref=Rhea:RHEA:17017, Rhea:RHEA-COMP:10475, Rhea:RHEA-COMP:10478, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:83100, ChEBI:CHEBI:83111; EC=2.3.1.12;.

Enzyme Numbers (IUBMB) for DLAT Gene

Phenotypes From GWAS Catalog for DLAT Gene

Gene Ontology (GO) - Molecular Function for DLAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004742 dihydrolipoyllysine-residue acetyltransferase activity IEA,NAS 3191998
GO:0005515 protein binding IPI 15861126
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0030523 dihydrolipoamide S-acyltransferase activity IEA --
genes like me logo Genes that share ontologies with DLAT: view
genes like me logo Genes that share phenotypes with DLAT: view

Human Phenotype Ontology for DLAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLAT

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DLAT Gene

Localization for DLAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLAT Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLAT gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DLAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IEA,TAS --
GO:0005967 mitochondrial pyruvate dehydrogenase complex NAS 3191998
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0045254 pyruvate dehydrogenase complex IEA,IDA 9242632
genes like me logo Genes that share ontologies with DLAT: view

Pathways & Interactions for DLAT Gene

genes like me logo Genes that share pathways with DLAT: view

Gene Ontology (GO) - Biological Process for DLAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006086 acetyl-CoA biosynthetic process from pyruvate IEA,IBA 21873635
GO:0006090 pyruvate metabolic process IEA,TAS --
GO:0006099 tricarboxylic acid cycle IEA --
genes like me logo Genes that share ontologies with DLAT: view

No data available for SIGNOR curated interactions for DLAT Gene

Drugs & Compounds for DLAT Gene

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  1. Drug products for research

(13) Drugs for DLAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Lipoic acid Approved, Investigational Nutra 0
Pyruvic acid Approved, Investigational Nutra 0
Dihydrolipoate Experimental Pharma Target 0

(9) Additional Compounds for DLAT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
 72-89-9
Dihydrolipoamide
  • 6,8-Dimercaptooctanamide
  • Dihydrothioctamide
  • 6,8-Bis-sulfanyloctanamide
  • 6,8-Dimercapto-octanamide
  • 6,8-Disulfanyloctanamide
 3884-47-7
S-Acetyldihydrolipoamide
  • 6-S-Acetyldihydrolipoamide
  • 6-Acetylsulfanyl-8-sulfanyl-octanamide
  • S-[6-Amino-6-oxo-1-(2-sulfanylethyl)hexyl] ethanethioate
  • S-[6-Amino-6-oxo-1-(2-sulfanylethyl)hexyl] ethanethioic acid
S-Acetyldihydrolipoamide-E
  • 8-S-Acetyldihydrolipoamide
  • Dihydrolipoyllysine-residue acetyltransferase]S-acetyldihydrolipoyllysine
genes like me logo Genes that share compounds with DLAT: view

Transcripts for DLAT Gene

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mRNA/cDNA for DLAT Gene

13 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLAT

Alternative Splicing Database (ASD) splice patterns (SP) for DLAT Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: - -
SP3: - - - - - - - - -
SP4:

Relevant External Links for DLAT Gene

GeneLoc Exon Structure for
DLAT

Expression for DLAT Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLAT Gene

mRNA expression in normal human tissues for DLAT Gene
mRNA expression by GTEx for DLAT GenemRNA expression by BioGPS for DLAT Gene

mRNA differential expression in normal tissues according to GTEx for DLAT Gene

This gene is overexpressed in Heart - Left Ventricle (x5.6) and Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for DLAT Gene

This gene is overexpressed in Heart (18.7) and Nasal epithelium (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DLAT Gene



Protein tissue co-expression partners for DLAT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLAT

SOURCE GeneReport for Unigene cluster for DLAT Gene:

Hs.335551

Evidence on tissue expression from TISSUES for DLAT Gene

  • Liver(4.6)
  • Kidney(4.5)
  • Nervous system(4.2)
  • Heart(3.7)
  • Muscle(2.6)
  • Blood(2.5)
  • Spleen(2.4)
  • Lymph node(2.2)
  • Intestine(2.2)
  • Skin(2.1)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DLAT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • salivary gland
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with DLAT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DLAT Gene

Orthologs for DLAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DLAT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DLAT 30 31
  • 99.28 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DLAT 30
  • 90.42 (n)
-- 31
  • 90 (a)
 OneToMany
-- 31
  • 78 (a)
 OneToMany
-- 31
  • 74 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia DLAT 30 31
  • 90.37 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dlat 30 17 31
  • 84.84 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DLAT 31
  • 84 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DLAT 31
  • 84 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dlat 30
  • 83.65 (n)
Chicken
(Gallus gallus)
 Aves DLAT 30 31
  • 72.91 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DLAT 31
  • 72 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dlat 30
  • 69.41 (n)
Str.13849 30
African clawed frog
(Xenopus laevis)
 Amphibia LOC398314 30
Zebrafish
(Danio rerio)
 Actinopterygii dlat 30 31
  • 71.42 (n)
 OneToOne
Dr.2810 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10771 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007975 30
  • 56.51 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG5261 30 32
  • 56.42 (n)
Worm
(Caenorhabditis elegans)
 Secernentea dlat-1 30
  • 58.91 (n)
F23B12.5 32
  • 53 (a)
C30H6.7 32
  • 39 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F04741g 30
  • 52.69 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AER364W 30
  • 51.38 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes LAT1 30 33
  • 50.65 (n)
KGD2 31
  • 26 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT1G54220 30
  • 53.91 (n)
Rice
(Oryza sativa)
 Liliopsida Os07g0410100 30
  • 52.84 (n)
Corn
(Zea mays)
 Liliopsida Zm.455 30
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes lat1 30
  • 53.4 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8267 31
  • 53 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU07659 30
  • 51.74 (n)
Species where no ortholog for DLAT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DLAT Gene

ENSEMBL:
Gene Tree for DLAT (if available)
TreeFam:
Gene Tree for DLAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLAT: view image

Paralogs for DLAT Gene

Paralogs for DLAT Gene

(1) SIMAP similar genes for DLAT Gene using alignment to 6 proteins:

  • ODP2_HUMAN
  • E9PEJ4_HUMAN
  • E9PKC7_HUMAN
  • F5H7M3_HUMAN
  • H0YDD4_HUMAN
  • Q86YI5_HUMAN
genes like me logo Genes that share paralogs with DLAT: view

Variants for DLAT Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLAT Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
838535 Uncertain Significance: Pyruvate dehydrogenase E2 deficiency 112,061,072(+) T/C
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
841563 Uncertain Significance: Pyruvate dehydrogenase E2 deficiency 112,025,504(+) A/C
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
856329 Uncertain Significance: Pyruvate dehydrogenase E2 deficiency 112,039,251(+) C/T
NM_001931.5(DLAT):c.983C>T (p.Ala328Val) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
930797 Uncertain Significance: Pyruvate dehydrogenase E2 deficiency 112,051,234(+) A/C
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
955752 Uncertain Significance: Pyruvate dehydrogenase E2 deficiency 112,045,229(+) G/A
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DLAT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DLAT Gene

Variant ID Type Subtype PubMed ID
esv2662119 CNV deletion 23128226
esv2745077 CNV deletion 23290073
esv3627749 CNV loss 21293372

Variation tolerance for DLAT Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.30; 98.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLAT Gene

Human Gene Mutation Database (HGMD)
DLAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLAT

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLAT Gene

Disorders for DLAT Gene

MalaCards: The human disease database

(22) MalaCards diseases for DLAT Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DLAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ODP2_HUMAN
  • Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show autoantibodies against the E2 component of pyruvate dehydrogenase complex.
  • Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]: Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. {ECO:0000269 PubMed:16049940}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DLAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DLAT: view

No data available for Genatlas for DLAT Gene

Publications for DLAT Gene

  1. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. (PMID: 16049940) Head RA … Brown GK (Annals of neurology 2005) 3 4 23 74
  2. 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. (PMID: 14638692) Hiromasa Y … Roche TE (The Journal of biological chemistry 2004) 3 4 23
  3. Sirtuin 4 is a lipoamidase regulating pyruvate dehydrogenase complex activity. (PMID: 25525879) Mathias RA … Cristea IM (Cell 2014) 3 4
  4. Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly. (PMID: 20361979) Vijayakrishnan S … Byron O (Journal of molecular biology 2010) 3 4
  5. Catalytic domain of PDC-E2 contains epitopes recognized by antimitochondrial antibodies in primary biliary cirrhosis. (PMID: 20180236) Braun S … Klein R (World journal of gastroenterology 2010) 3 23

ExternalLinks

View latest publications for DLAT gene in Mastermind

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