Aliases for DSTYK Gene
Aliases for DSTYK Gene
External Ids for DSTYK Gene
- HGNC: 29043
- Entrez Gene: 25778
- Ensembl: ENSG00000133059
- OMIM: 612666
- UniProtKB: Q6XUX3
Previous HGNC Symbols for DSTYK Gene
- RIPK5
Previous GeneCards Identifiers for DSTYK Gene
- GC01M203379
- GC01M176276
Summaries for DSTYK Gene
-
This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
GeneCards Summary for DSTYK Gene
DSTYK (Dual Serine/Threonine And Tyrosine Protein Kinase) is a Protein Coding gene. Diseases associated with DSTYK include Congenital Anomalies Of Kidney And Urinary Tract and Renal Agenesis, Unilateral. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity.
UniProtKB/Swiss-Prot for DSTYK Gene
-
Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation. May induce both caspase-dependent apoptosis and caspase-independent cell death.
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSTYK Gene
Genomics for DSTYK Gene
Regulatory Elements for DSTYK Gene
Enhancers for DSTYK Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around DSTYK on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the DSTYK gene promoter:
Regulatory Element Products
Genomic Location for DSTYK Gene
- Chromosome:
- 1
- Start:
- 205,142,503 bp from pter
- End:
- 205,211,599 bp from pter
- Size:
- 69,097 bases
- Orientation:
- Minus strand
Genomic View for DSTYK Gene
Genes around DSTYK on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q32.1 by Ensembl
- 1q32.1 by Entrez Gene
- 1q32.1 by HGNC
DSTYK 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 DSTYK Gene
Proteins for DSTYK Gene
-
Protein details for DSTYK Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6XUX3-DUSTY_HUMAN
- Recommended name:
- Dual serine/threonine and tyrosine protein kinase
- Protein Accession:
- Q6XUX3
- B7ZL64
- O75060
- Q17R94
- Q5RKT0
- Q6IN87
- Q6P997
- Q86Y03
- Q9P1S5
Protein attributes for DSTYK Gene
- Size:
- 929 amino acids
- Molecular mass:
- 105206 Da
- Quaternary structure:
- No Data Available
Protein Expression for DSTYK Gene
Selected DME Specific Peptides for DSTYK Gene
- Q6XUX3:
-
- ERLHRDLY
- ELIISRLNQAV
- FDEECWQLMEACW
- EEKYLQQIVD
- KSVVPPD
- ELGRGQYGVVYLCD
- SVDVYAFGILFWY
- GKYDNSVD
- PGQDTKAQS
- SVDYLRESFVGTLERCL
- KITDLGFCKPEAMMSGSIVGTPIHMAPELF
- RPLLGIVQP
- NDFLPVITYALHKDELSER
- TQKFFRD
- CASKDHLWNNVR
- KENELYESLM
- KCQLLNLLL
- YELVHTL
- DLWLRVRKDHAPRLARLSLESRSL
- DVSVHITSNYLKQILNAAYHVEVTFHSGS
- WKRKVAQ
- LVDAAKALN
- SICSQFRTRL
- GSVKLPEAFE
- VRKDHAPRLARLSLESRSLQDVLLH
- LNAAYHVEVTFHSGSSVTR
- IANRKQEEMK
- KHWNDLALEFHY
- VVAPCQGLRP
- AFDMQRD
- ETLNTMK
- RLNQAVANKL
- WEQIKQII
Post-translational modifications for DSTYK Gene
Other Protein References for DSTYK Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for DSTYK
- Invitrogen Antibodies for DSTYK
- antibodies-online Antibodies for DSTYK: See all 39
- GeneTex DSTYK antibody for DSTYK
-
St John's Laboratory Antibodies for DSTYK
-
Santa Cruz Biotechnology (SCBT) Antibodies for DSTYK
Protein Products
-
OriGene Purified Proteins for DSTYK
- Search Origene for MassSpec and Protein Over-expression Lysates for DSTYK
- Origene Custom Protein Services for DSTYK
- antibodies-online Proteins for DSTYK: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for DSTYK
Assay Products
- antibodies-online Kits for DSTYK: See all 10
Domains & Families for DSTYK Gene
Gene Families for DSTYK Gene
Protein Domains for DSTYK Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DSTYK Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6XUX3UniProtKB/Swiss-Prot:
DUSTY_HUMAN :- Contains 1 protein kinase domain.
- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
- Domain:
-
- Contains 1 protein kinase domain.
- Family:
-
- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Function for DSTYK Gene
Molecular function for DSTYK Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + a protein = ADP + a phosphoprotein.
- UniProtKB/Swiss-Prot Function:
- Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation. May induce both caspase-dependent apoptosis and caspase-independent cell death.
Enzyme Numbers (IUBMB) for DSTYK Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004672 | protein kinase activity | IEA | -- |
| GO:0004674 | protein serine/threonine kinase activity | IEA,IBA | -- |
| GO:0004712 | protein serine/threonine/tyrosine kinase activity | IEA | -- |
| GO:0004713 | protein tyrosine kinase activity | IEA | -- |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for DSTYK Gene
- GenomeRNAi human phenotypes for DSTYK:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Decreased ionizing radiation sensitivity
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability after Maraba virus infection
- Increased G1 DNA content
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Decreased substrate adherent cell growth
- Decreased homologous recombination repair frequency
- Increased cilium length after serum starvation
- Increased colony dispersion (increased number of colonies and decreased number of cells per colony)
Animal Model Products
-
Taconic Biosciences Mouse Models for DSTYK
- Cyagen custom Knockout/knockin (KOKI) mouse models for DSTYK
-
-
ViGene Biosciences lentiviral particle packaged cDNA for DSTYK gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DSTYK gene
- Search ViGene Biosciences for DSTYK
CRISPR Products
-
OriGene CRISPR knockouts for DSTYK
- GenScript: Design CRISPR guide RNA sequences for DSTYK
miRNA for DSTYK Gene
- miRTarBase miRNAs that target DSTYK
-
- hsa-mir-122-5p (MIRT003727)
- hsa-mir-130b-3p (MIRT020282)
- hsa-mir-148a-3p (MIRT026003)
- hsa-mir-192-5p (MIRT026422)
- hsa-mir-93-5p (MIRT028170)
- hsa-mir-15a-5p (MIRT051344)
- hsa-mir-130a-3p (MIRT132490)
- hsa-mir-301a-3p (MIRT132492)
- hsa-mir-454-3p (MIRT132502)
- hsa-mir-301b-3p (MIRT132503)
- hsa-mir-4295 (MIRT132505)
- hsa-mir-3666 (MIRT132507)
- hsa-mir-6504-3p (MIRT132511)
- hsa-mir-8080 (MIRT132515)
- hsa-mir-627-3p (MIRT269661)
- hsa-mir-877-3p (MIRT269662)
- hsa-mir-544a (MIRT440769)
- hsa-mir-6878-3p (MIRT523997)
- hsa-mir-6807-5p (MIRT523998)
- hsa-mir-7151-3p (MIRT523999)
- hsa-mir-5095 (MIRT524000)
- hsa-mir-6744-3p (MIRT524001)
- hsa-mir-4757-5p (MIRT524002)
- hsa-mir-661 (MIRT524003)
- hsa-mir-3116 (MIRT524004)
- hsa-mir-1254 (MIRT524005)
- hsa-mir-6781-3p (MIRT524006)
- hsa-mir-2682-3p (MIRT524007)
- hsa-mir-3922-3p (MIRT524008)
- hsa-mir-3176 (MIRT524009)
- hsa-mir-6872-3p (MIRT524010)
- hsa-mir-4438 (MIRT524011)
- hsa-mir-6505-5p (MIRT537907)
- hsa-mir-5192 (MIRT537908)
- hsa-mir-4261 (MIRT537909)
- hsa-mir-875-3p (MIRT537910)
- hsa-mir-665 (MIRT537911)
- hsa-mir-4768-3p (MIRT537912)
- hsa-mir-381-3p (MIRT537913)
- hsa-mir-300 (MIRT537914)
- hsa-mir-6882-5p (MIRT537915)
- hsa-mir-922 (MIRT537916)
- hsa-mir-3678-3p (MIRT537917)
- hsa-mir-4473 (MIRT537918)
- hsa-mir-4671-3p (MIRT537919)
- hsa-mir-2467-3p (MIRT537920)
- hsa-mir-4645-3p (MIRT537921)
- hsa-mir-3919 (MIRT537922)
- hsa-mir-3123 (MIRT537923)
- hsa-mir-30e-3p (MIRT614019)
- hsa-mir-30d-3p (MIRT614020)
- hsa-mir-30a-3p (MIRT614021)
- hsa-mir-1238-3p (MIRT614022)
- hsa-mir-670-3p (MIRT614023)
- hsa-mir-6881-3p (MIRT614024)
- hsa-mir-6780a-3p (MIRT614025)
- hsa-mir-7111-3p (MIRT614026)
- hsa-mir-3127-5p (MIRT615656)
- hsa-mir-3918 (MIRT615657)
- hsa-mir-619-5p (MIRT633006)
- hsa-mir-5004-3p (MIRT633007)
- hsa-mir-1200 (MIRT633008)
- hsa-mir-496 (MIRT633009)
- hsa-mir-432-5p (MIRT633010)
- hsa-mir-544b (MIRT633011)
- hsa-mir-4324 (MIRT633012)
- hsa-mir-5089-5p (MIRT658862)
- hsa-mir-4279 (MIRT658863)
- hsa-mir-675-5p (MIRT658864)
- hsa-mir-4466 (MIRT658865)
- hsa-mir-548q (MIRT658866)
- hsa-mir-6506-5p (MIRT658867)
- hsa-mir-1976 (MIRT658868)
- hsa-mir-150-5p (MIRT658869)
- hsa-mir-6747-3p (MIRT658870)
- hsa-mir-6727-3p (MIRT658871)
- hsa-mir-4722-3p (MIRT658872)
- hsa-mir-6814-5p (MIRT658873)
- hsa-mir-5697 (MIRT658874)
- hsa-mir-562 (MIRT658875)
- hsa-mir-4326 (MIRT717598)
- hsa-mir-498 (MIRT717599)
- hsa-mir-6888-3p (MIRT717600)
- hsa-mir-6783-3p (MIRT717601)
- hsa-mir-1343-3p (MIRT717602)
- hsa-mir-23b-5p (MIRT717603)
- hsa-mir-23a-5p (MIRT717604)
- hsa-mir-3120-5p (MIRT717605)
- hsa-mir-3653-5p (MIRT717606)
- hsa-mir-6742-3p (MIRT717607)
- hsa-mir-6852-5p (MIRT717608)
- hsa-mir-939-3p (MIRT717609)
- hsa-mir-6877-3p (MIRT717610)
- hsa-mir-6819-3p (MIRT717611)
- hsa-mir-5571-5p (MIRT717612)
- hsa-mir-6885-3p (MIRT722510)
- hsa-mir-29b-2-5p (MIRT722511)
- hsa-mir-6839-3p (MIRT722512)
- hsa-mir-4507 (MIRT722513)
- hsa-mir-3940-5p (MIRT722514)
- hsa-mir-19b-2-5p (MIRT722515)
- hsa-mir-19b-1-5p (MIRT722516)
- hsa-mir-19a-5p (MIRT722517)
- hsa-mir-32-5p (MIRT727848)
- hsa-mir-92a-3p (MIRT727849)
- hsa-mir-92b-3p (MIRT727850)
miRNA Products
- Search ViGene Biosciences for DSTYK
Clone Products
- Sino Biological Human cDNA Clone for DSTYK
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for DSTYK
- VectorBuilder custom plasmid, inducible vectors for DSTYK
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DSTYK
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for DSTYK
-
ViGene Biosciences adenoviral particle packaged cDNA for DSTYK gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DSTYK gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DSTYK gene
Flow Cytometry Products
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DSTYK Gene
Localization for DSTYK Gene
Subcellular locations from UniProtKB/Swiss-Prot for DSTYK Gene
- Cytoplasm. Cell membrane. Apical cell membrane. Basolateral cell membrane. Cell junction. Note=Detected at apical cell-cell junctions. Colocalized with FGF receptors to the cell membrane (By similarity). Detected in basolateral and apical membranes of all tubular epithelia. {ECO:0000250 UniProtKB:Q6XUX1, ECO:0000269 PubMed:23862974}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 4 |
| nucleus | 3 |
| cytoskeleton | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 23862974 |
| GO:0005829 | cytosol | IBA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016323 | basolateral plasma membrane | IEA,IDA | 23862974 |
Pathways & Interactions for DSTYK Gene
No Data Available
Interacting Proteins for DSTYK Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006468 | protein phosphorylation | IEA | -- |
| GO:0016310 | phosphorylation | IEA | -- |
| GO:0018108 | peptidyl-tyrosine phosphorylation | IEA | -- |
| GO:0033674 | positive regulation of kinase activity | IMP | 23862974 |
| GO:0044344 | cellular response to fibroblast growth factor stimulus | IDA | 23862974 |
No data available for Pathways by source and SIGNOR curated interactions for DSTYK Gene
Drugs & Compounds for DSTYK Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Adenosine triphosphate | Approved | Nutra | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
Transcripts for DSTYK Gene
mRNA/cDNA for DSTYK Gene
- (5) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (192) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DSTYK Gene
CRISPR Products
-
OriGene CRISPR knockouts for DSTYK
- GenScript: Design CRISPR guide RNA sequences for DSTYK
miRNA Products
- Search ViGene Biosciences for DSTYK
Clone Products
- Sino Biological Human cDNA Clone for DSTYK
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for DSTYK
- VectorBuilder custom plasmid, inducible vectors for DSTYK
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DSTYK
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - |
Expression for DSTYK Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
This gene is overexpressed in Adrenal (30.2) and Adipocyte (26.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DSTYK Gene
NURSA nuclear receptor signaling pathways regulating expression of DSTYK Gene:
DSTYKSOURCE GeneReport for Unigene cluster for DSTYK Gene:
Hs.6874mRNA Expression by UniProt/SwissProt for DSTYK Gene:
Q6XUX3-DUSTY_HUMAN
Tissue specificity:
Predominantly expressed in skeletal muscle and testis. Expressed in basolateral and apical membranes of all tubular epithelia. Expressed in thin ascending limb of the loop of Henle and the distal convoluted tubule. Expressed in all layers of transitional ureteric epithelium and in the ureteric smooth-muscle cells. Weakly expressed in heart, brain, placenta, kidney, pancreas, spleen, thymus, prostate, uterus, small intestine, white blood cells, stomach, spinal cord and adrenal gland. Is widely distributed in the CNS. Also detected in several tumor cell lines.
Primer Products
-
OriGene qPCR primer pairs and template standards for DSTYK
-
OriGene qPCR primer pairs for DSTYK
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for DSTYK Gene
Orthologs for DSTYK Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DSTYK 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | DSTYK 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | DSTYK 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Dstyk 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Dstyk 34 |
|
||
| chicken (Gallus gallus) |
Aves | DSTYK 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | DSTYK 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dstyk 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.5447 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dstyk 34 35 |
|
||
| Dr.13169 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | png 35 |
|
ManyToMany | |
| Wsck 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | Y47G6A.5 35 |
|
ManyToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC15 35 |
|
OneToMany |
- Species where no ortholog for DSTYK was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- oppossum (Monodelphis domestica)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for DSTYK Gene
(1) SIMAP similar genes for DSTYK Gene using alignment to 2 proteins:
No data available for Paralogs for DSTYK Gene
Variants for DSTYK Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs200780796 | Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805], other | 205,211,450(+) | AGCCC(C/T)GGCAC | upstream-variant-2KB, reference, missense | |
| rs778586547 | Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805] | 205,148,279(+) | AGCCT(A/G)AGCAG | intron-variant, reference, missense | |
| VAR_071325 | Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805] | ||||
| rs1062715 | Benign | 205,160,191(-) | CACTT(C/T)CCTTG | reference, synonymous-codon | |
| rs3851294 | Benign | 205,161,285(+) | AGAAC(A/G)GCTTT | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv563n100 | CNV | gain | 25217958 |
| esv1503810 | OTHER | inversion | 17803354 |
| esv2721906 | CNV | deletion | 23290073 |
| esv2721918 | CNV | deletion | 23290073 |
| esv3414627 | CNV | insertion | 20981092 |
| esv3588631 | OTHER | inversion | 21293372 |
| esv7237 | OTHER | inversion | 19470904 |
| nsv1079018 | OTHER | inversion | 25765185 |
| nsv1141904 | OTHER | inversion | 24896259 |
| nsv468016 | CNV | loss | 19166990 |
| nsv549042 | CNV | loss | 21841781 |
| nsv946605 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
34.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.40;
63.69% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for DSTYK Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSTYK Gene
Disorders for DSTYK Gene
(3) MalaCards diseases for DSTYK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital anomalies of kidney and urinary tract |
|
|
| renal agenesis, unilateral |
|
|
| posterior urethral valves |
|
|
Search DSTYK in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DUSTY_HUMAN- Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805]: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. {ECO:0000269 PubMed:23862974}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Relevant External Links for DSTYK
No data available for Genatlas for DSTYK Gene
Publications for DSTYK Gene
- RIP5 is a RIP-homologous inducer of cell death. (PMID: 15178406) Zha J. … Shu H.B. (Biochem. Biophys. Res. Commun. 2004) 2 3 4 64
- Mutations in DSTYK and dominant urinary tract malformations. (PMID: 23862974) Sanna-Cherchi S. … Gharavi A.G. (N. Engl. J. Med. 2013) 3 4 64
- Dusty protein kinases: primary structure, gene evolution, tissue specific expression and unique features of the catalytic domain. (PMID: 17123648) Peng J. … Huang C.-H. (Biochim. Biophys. Acta 2006) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N. … Ohara O. (DNA Res. 1997) 3 4 64
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