Aliases for DHTKD1 Gene
Aliases for DHTKD1 Gene
External Ids for DHTKD1 Gene
- HGNC: 23537
- Entrez Gene: 55526
- Ensembl: ENSG00000181192
- OMIM: 614984
- UniProtKB: Q96HY7
Previous GeneCards Identifiers for DHTKD1 Gene
- GC10P012114
- GC10P012150
- GC10P012028
- GC10P012110
Summaries for DHTKD1 Gene
-
This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]
GeneCards Summary for DHTKD1 Gene
DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1) is a Protein Coding gene. Diseases associated with DHTKD1 include 2-Aminoadipic 2-Oxoadipic Aciduria and Charcot-Marie-Tooth Disease, Axonal, Type 2Q. Among its related pathways are Integrated Breast Cancer Pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and oxoglutarate dehydrogenase (succinyl-transferring) activity. An important paralog of this gene is OGDHL.
UniProtKB/Swiss-Prot for DHTKD1 Gene
-
The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).
Additional gene information for DHTKD1 Gene
- Monarch Initiative
- Search for DHTKD1 at DataMed
- Search for DHTKD1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHTKD1 Gene
Genomics for DHTKD1 Gene
GeneHancer (GH) Regulatory Elements for DHTKD1 Gene
Promoters and enhancers for DHTKD1 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 DHTKD1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DHTKD1 gene promoter:
-
- FOXJ2 (long isoform)
- FOXJ2
- NF-Y
- CBF(2)
- POU3F2 (N-Oct-5b)
- POU3F2 (N-Oct-5a)
- POU3F2
- PPAR-gamma2
- PPAR-gamma1
- AP-2gamma
Regulatory Element Products
Genomic Locations for DHTKD1 Gene
Genomic Locations for DHTKD1 Gene
- chr10:12,068,917-12,123,228
- (GRCh38/hg38)
- Size:
- 54,312 bases
- Orientation:
- Plus strand
- chr10:12,110,934-12,165,224
- (GRCh37/hg19)
- Size:
- 54,291 bases
- Orientation:
- Plus strand
Genomic View for DHTKD1 Gene
Genes around DHTKD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p14 by Entrez Gene
- 10p14 by HGNC
- 10p14 by Ensembl
DHTKD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DHTKD1 Gene
Proteins for DHTKD1 Gene
-
Protein details for DHTKD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96HY7-DHTK1_HUMAN
- Recommended name:
- Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
- Protein Accession:
- Q96HY7
- Q68CU5
- Q9BUM8
- Q9HCE2
Protein attributes for DHTKD1 Gene
- Size:
- 919 amino acids
- Molecular mass:
- 103077 Da
- Cofactor:
- Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAB13456.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB13456.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. C-terminal exons are derived from the neighboring gene.; Evidence={ECO:0000305};
Protein Expression for DHTKD1 Gene
Post-translational modifications for DHTKD1 Gene
Other Protein References for DHTKD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for DHTKD1
- Novus Biologicals Antibodies for DHTKD1
-
Abcam antibodies for DHTKD1
- Invitrogen Antibodies for DHTKD1 (AFLGC-DHTKD1)
- GeneTex DHTKD1 Antibody for DHTKD1
-
Boster Bio Antibodies for DHTKD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for DHTKD1
- Sino Biological Antibodies for DHTKD1
Protein Products
-
OriGene Purified Proteins for DHTKD1
- Search Origene for MassSpec and Protein Over-expression Lysates for DHTKD1
- Origene Custom Protein Services for DHTKD1
- Search GeneTex for Proteins for DHTKD1
-
Abcam proteins for DHTKD1
Assay Products
- antibodies-online: Search results for 3 available DHTKD1 Elisa Kits ranked by validation data
- Compare Top DHTKD1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for DHTKD1 Gene
Domains & Families for DHTKD1 Gene
Gene Families for DHTKD1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for DHTKD1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DHTKD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96HY7- Family:
-
- Belongs to the alpha-ketoglutarate dehydrogenase family.
Function for DHTKD1 Gene
Molecular function for DHTKD1 Gene
- UniProtKB/Swiss-Prot Function:
- The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- 2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2).
Enzyme Numbers (IUBMB) for DHTKD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004591 | oxoglutarate dehydrogenase (succinyl-transferring) activity | IEA,IBA | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016624 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor | IEA | -- |
| GO:0030976 | thiamine pyrophosphate binding | IEA | -- |
Phenotypes for DHTKD1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for DHTKD1
- Cyagen custom Knockout/knockin (KOKI) mouse models for DHTKD1
-
CRISPR Products
-
OriGene CRISPR knockouts for DHTKD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DHTKD1
- genomics-online: gRNA clones - Search results for 116 available DHTKD1 gene related products
- Overview of 116 available DHTKD1 gene related products
- Applied Biological Materials CRISPR for DHTKD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DHTKD1
- GenScript: Design CRISPR guide RNA sequences for DHTKD1
miRNA for DHTKD1 Gene
- miRTarBase miRNAs that target DHTKD1
-
- hsa-mir-1296-5p (MIRT036136)
- hsa-mir-92a-3p (MIRT049034)
- hsa-mir-16-5p (MIRT051121)
- hsa-let-7b-5p (MIRT052332)
- hsa-mir-129-5p (MIRT615991)
- hsa-mir-1228-5p (MIRT615992)
- hsa-mir-6881-5p (MIRT615993)
- hsa-mir-6787-5p (MIRT615994)
- hsa-mir-663a (MIRT615995)
- hsa-mir-1908-5p (MIRT615996)
- hsa-mir-7150 (MIRT630482)
- hsa-mir-4736 (MIRT630483)
- hsa-mir-4763-3p (MIRT630484)
- hsa-mir-1207-5p (MIRT630485)
- hsa-mir-4695-3p (MIRT630486)
- hsa-mir-4772-3p (MIRT630487)
- hsa-mir-6787-3p (MIRT630488)
- hsa-mir-1304-3p (MIRT630489)
- hsa-mir-6736-3p (MIRT630490)
- hsa-mir-6890-3p (MIRT630491)
- hsa-mir-4482-3p (MIRT659015)
- hsa-mir-7159-3p (MIRT659016)
- hsa-mir-1238-3p (MIRT659017)
- hsa-mir-670-3p (MIRT659018)
- hsa-mir-4753-3p (MIRT659019)
- hsa-mir-6873-3p (MIRT659020)
- hsa-mir-6881-3p (MIRT659021)
- hsa-mir-6780a-3p (MIRT659022)
- hsa-mir-7111-3p (MIRT659023)
- hsa-mir-130b-5p (MIRT659024)
- hsa-mir-6817-3p (MIRT659025)
- hsa-mir-7110-3p (MIRT659026)
- hsa-mir-138-2-3p (MIRT659027)
- hsa-mir-6769b-3p (MIRT659028)
- hsa-mir-4723-3p (MIRT659029)
- hsa-mir-3183 (MIRT659030)
- hsa-mir-6878-3p (MIRT659031)
- hsa-mir-640 (MIRT659032)
- hsa-mir-378a-5p (MIRT659033)
- hsa-mir-6778-3p (MIRT659034)
- hsa-mir-6821-3p (MIRT659035)
- hsa-mir-6790-3p (MIRT659036)
- hsa-mir-3653-5p (MIRT659037)
- hsa-mir-150-5p (MIRT659038)
- hsa-mir-212-5p (MIRT659039)
- hsa-mir-186-3p (MIRT659040)
- hsa-mir-6849-3p (MIRT659041)
- hsa-mir-764 (MIRT659042)
- hsa-mir-125a-3p (MIRT659043)
- hsa-mir-1226-3p (MIRT659044)
- hsa-mir-5585-3p (MIRT678703)
- hsa-mir-6783-3p (MIRT678704)
- hsa-mir-4279 (MIRT678705)
- hsa-mir-1343-3p (MIRT678706)
- hsa-mir-23b-5p (MIRT678707)
- hsa-mir-23a-5p (MIRT678708)
- hsa-mir-1976 (MIRT678709)
- hsa-mir-6742-3p (MIRT678710)
- hsa-mir-6852-5p (MIRT678711)
- hsa-mir-939-3p (MIRT678712)
- hsa-mir-6747-3p (MIRT678713)
- hsa-mir-6727-3p (MIRT678714)
- hsa-mir-4722-3p (MIRT678715)
- hsa-mir-660-3p (MIRT678716)
- hsa-mir-3934-5p (MIRT743095)
- hsa-mir-5586-5p (MIRT750998)
- hsa-mir-6512-3p (MIRT753217)
- hsa-mir-6720-5p (MIRT753749)
- hsa-mir-6746-3p (MIRT754484)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DHTKD1
- Browse OriGene Inhibitory RNA Products For DHTKD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHTKD1
- genomics-online: shRNA clones - Search results for 116 available DHTKD1 gene related products
- Overview of 116 available DHTKD1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DHTKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DHTKD1
- Applied Biological Materials Clones for DHTKD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DHTKD1
No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for DHTKD1 Gene
Localization for DHTKD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DHTKD1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | 23141294 |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0005829 | NOT cytosol | IBA | -- |
| GO:0045252 | oxoglutarate dehydrogenase complex | IBA | -- |
Pathways & Interactions for DHTKD1 Gene
Pathways by source for DHTKD1 Gene
1 BioSystems pathway for DHTKD1 Gene
3 Reactome pathways for DHTKD1 Gene
Interacting Proteins for DHTKD1 Gene
GPS-Prot Interaction Network for DHTKD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002244 | hematopoietic progenitor cell differentiation | IEA | -- |
| GO:0006091 | generation of precursor metabolites and energy | IMP | 23141294 |
| GO:0006096 | glycolytic process | IEA | -- |
| GO:0006099 | tricarboxylic acid cycle | IBA,IEA | -- |
| GO:0008152 | metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for DHTKD1 Gene
Drugs & Compounds for DHTKD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Oxogluric acid | Experimental, Investigational | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Thiamine pyrophosphate |
|
154-87-0 |
|
Drug Products
Transcripts for DHTKD1 Gene
mRNA/cDNA for DHTKD1 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (184) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000263035 5159 bps (uc001ild.6)
- ENST00000437298 933 bps (uc057rrs.1)
- ENST00000465617 773 bps (uc057rrt.1)
- ENST00000415935 482 bps (uc057rru.1)
- ENST00000448829 787 bps (uc057rrv.1)
Unigene Clusters for DHTKD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DHTKD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DHTKD1
- genomics-online: gRNA clones - Search results for 116 available DHTKD1 gene related products
- Overview of 116 available DHTKD1 gene related products
- Applied Biological Materials CRISPR for DHTKD1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DHTKD1
- GenScript: Design CRISPR guide RNA sequences for DHTKD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DHTKD1
- Browse OriGene Inhibitory RNA Products For DHTKD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHTKD1
- genomics-online: shRNA clones - Search results for 116 available DHTKD1 gene related products
- Overview of 116 available DHTKD1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DHTKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DHTKD1
- Applied Biological Materials Clones for DHTKD1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
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| SP7: | - | - | |||||||||||||||||||||||||||||||||
| SP8: |
Expression for DHTKD1 Gene
mRNA differential expression in normal tissues according to GTEx for DHTKD1 Gene
This gene is overexpressed in Liver (x7.0).
This gene is overexpressed in Liver (16.9), Salivary gland (9.6), Lymph node (8.4), and Liver, secretome (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHTKD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of DHTKD1 Gene:
DHTKD1SOURCE GeneReport for Unigene cluster for DHTKD1 Gene:
Hs.104980Evidence on tissue expression from TISSUES for DHTKD1 Gene
- Liver(4.6)
- Kidney(4.4)
- Nervous system(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DHTKD1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- head
- skull
Abdomen:
- kidney
Primer Products
-
OriGene qPCR primer pairs for DHTKD1
-
OriGene qPCR primer pairs and template standards for DHTKD1
- genomics-online: primer clones - Search results for 116 available DHTKD1 gene related products
- Overview of 116 available DHTKD1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DHTKD1 Gene
Orthologs for DHTKD1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DHTKD1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DHTKD1 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DHTKD1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DHTKD1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Dhtkd1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DHTKD1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Dhtkd1 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | DHTKD1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DHTKD1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dhtkd1 33 |
|
||
| Str.17401 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4843 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dhtkd1 34 33 |
|
OneToOne | |
| Dr.13396 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG1544 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000551 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | ZK836.2 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | KGD1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1194 34 |
|
OneToOne |
- Species where no ortholog for DHTKD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for DHTKD1 Gene
- ENSEMBL:
- Gene Tree for DHTKD1 (if available)
- TreeFam:
- Gene Tree for DHTKD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DHTKD1: view image
Paralogs for DHTKD1 Gene
Variants for DHTKD1 Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs117225135 | conflicting-interpretations-of-pathogenicity, likely-pathogenic, 2-aminoadipic 2-oxoadipic aciduria, not provided, not specified, 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750] | 12,112,930(+) | G/A | coding_sequence_variant, missense_variant | |
| rs200788729 | likely-pathogenic, 2-aminoadipic 2-oxoadipic aciduria | 12,108,004(+) | C/T | coding_sequence_variant, missense_variant | |
| rs397514534 | pathogenic, 2-aminoadipic 2-oxoadipic aciduria | 12,094,141(+) | C/T | coding_sequence_variant, stop_gained | |
| rs606231237 | pathogenic, Charcot-Marie-Tooth disease, axonal, type 2Q | 12,097,780(+) | T/C/G | coding_sequence_variant, stop_gained, synonymous_variant | |
| rs756509201 | uncertain-significance, Charcot-Marie-Tooth disease, axonal, type 2Q | 12,120,872(+) | C/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv120e199 | CNV | deletion | 23128226 |
| dgv37n21 | CNV | gain | 19592680 |
| dgv673n100 | CNV | gain | 25217958 |
| dgv674n100 | CNV | gain | 25217958 |
| dgv67n27 | CNV | gain | 19166990 |
| dgv956n54 | CNV | gain | 21841781 |
| esv2673758 | CNV | deletion | 23128226 |
| esv2733084 | CNV | deletion | 23290073 |
| esv2761574 | CNV | loss | 21179565 |
| esv3622354 | CNV | gain | 21293372 |
| esv3622355 | CNV | gain | 21293372 |
| esv3622356 | CNV | loss | 21293372 |
| esv3622357 | CNV | gain | 21293372 |
| esv3622358 | CNV | loss | 21293372 |
| esv3622359 | CNV | loss | 21293372 |
| esv3622360 | CNV | gain | 21293372 |
| esv3622361 | CNV | loss | 21293372 |
| esv3891755 | CNV | loss | 25118596 |
| nsv1035709 | CNV | gain | 25217958 |
| nsv1035894 | CNV | gain | 25217958 |
| nsv1046396 | CNV | gain | 25217958 |
| nsv470919 | CNV | gain | 18288195 |
| nsv818745 | CNV | gain | 17921354 |
| nsv831785 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.93;
93.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DHTKD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHTKD1 Gene
Disorders for DHTKD1 Gene
(5) MalaCards diseases for DHTKD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| 2-aminoadipic 2-oxoadipic aciduria |
|
|
| charcot-marie-tooth disease, axonal, type 2q |
|
|
| charcot-marie-tooth disease type 2q |
|
|
| tooth disease |
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Search DHTKD1 in MalaCards
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UniProtKB/Swiss-Prot
DHTK1_HUMAN- Charcot-Marie-Tooth disease 2Q (CMT2Q) [MIM:615025]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:23141294}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. {ECO:0000269 PubMed:23141293}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for DHTKD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DHTKD1 Gene
Publications for DHTKD1 Gene
- Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
- A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. (PMID: 23141294) Xu WY … Wang ZG (American journal of human genetics 2012) 3 4 58
- DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. (PMID: 23141293) Danhauser K … Kölker S (American journal of human genetics 2012) 3 4 58
- Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
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