Gene Gene information from NCBI Gene database.
Entrez ID 25778
Gene name Dual serine/threonine and tyrosine protein kinase
Gene symbol DSTYK
Synonyms (NCBI Gene)
CAKUT1DustyPKHDCMD38PRHDNS1RIP5RIPK5SPG23
Chromosome 1
Chromosome location 1q32.1
Summary 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. [
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs554197975 G>A Pathogenic, likely-benign Intron variant
rs879255515 C>T Pathogenic Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1420
miRTarBase ID miRNA Experiments Reference
MIRT003727 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT020282 hsa-miR-130b-3p Sequencing 20371350
MIRT026003 hsa-miR-148a-3p Sequencing 20371350
MIRT026422 hsa-miR-192-5p Microarray 19074876
MIRT028170 hsa-miR-93-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0004712 Function Protein serine/threonine/tyrosine kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612666 29043 ENSG00000133059
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6XUX3
Protein name Dual serine/threonine and tyrosine protein kinase (EC 2.7.12.1) (Dusty protein kinase) (Dusty PK) (RIP-homologous kinase) (Receptor-interacting serine/threonine-protein kinase 5) (Sugen kinase 496) (SgK496)
Protein function Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent apoptosis and caspase-independent cell death
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07714 PK_Tyr_Ser-Thr 653 906 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity 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 lay
Sequence
MEGDGVPWGSEPVSGPGPGGGGMIRELCRGFGRYRRYLGRLRQNLRETQKFFRDIKCSHN
HTCLSSLTGGGGAERGPAGDVAETGLQAGQLSCISFPPKEEKYLQQIVDCLPCILILGQD
CNVKCQLLNLLLGVQVLPTTKLGSEESCKLRRLRFTYGTQTRVSLALPGQYELVHTLVAH
QGNWETIPEEDLEVQENNEDAAHVLAELEVTMHHALLQEVDVVVAPCQGLRPTVDVLGDL
VNDFLPVITYALHKDELSERDEQELQEIRKYFSFPVFFFKVPKLGSEIIDSSTRRMESER
SPLYRQLIDLGYLSSSHWNCGAPGQDTKAQSMLVEQSEKLRHLSTFSHQVLQTRLVDAAK
ALNLVHCHCLDIFINQAFDMQRDLQITPKRLEYTRKKENELYESLMNIANRKQEEMKDMI
VETLNTMKEELLDDATNMEFKDVIVPENGEPVGTREIKCCIRQIQELIISRLNQAVANKL
ISSVDYLRESFVGTLERCLQSLEKSQDVSVHITSNYLKQILNAAYHVEVTFHSGSSVTRM
LWEQIKQIIQRITWVSPPAITLEWKRKVAQEAIESLSASKLAKSICSQFRTRLNSSHEAF
AASLRQLEAGHSGRLEKTEDLWLRVRKDHAPRLARLSLESCSLQDVLLHRKPKLGQELGR
GQYGVVYLCDNWGGHFPCALKSVVPPDEKHWNDLALEFHYMRSLPKHERLVDLHGSVIDY
NYGGGSSIAVLLIMERLHRDLYTGLKAGLTLETRLQIALDVVEGIRFLHSQGLVHRDIKL
KNVLLDKQNRAKITDLGFCKPEAMMSGSIVGTPIHMAPELFTGKYDNSVDVYAFGILFWY
ICSGSVKLPEAFERCASKDHLWNNVRRGARPERLPVFDEECWQLMEACWDGDPLKRPLLG
IVQPML
QGIMNRLCKSNSEQPNRGLDDST
Sequence length 929
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital anomalies of kidney and urinary tract 1 Likely pathogenic; Pathogenic rs2102413524, rs746112821, rs2526841964, rs879255515 RCV001808006
RCV003990649
RCV004554994
RCV000054498
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal recessive spastic paraplegia type 23 Spastic Paraplegia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cakut Congenital anomalies of the kidney and urinary tract Pubtator 28566479, 36555181 Associate
★☆☆☆☆
Found in Text Mining only
Chronic kidney disease stage 5 Kidney Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital kyphoscoliosis Congenital kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Development Disorder BEFREE 28157540
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only
Fecal Incontinence Bowel incontinence HPO_DG
★☆☆☆☆
Found in Text Mining only
Horseshoe Kidney Horseshoe Kidney HPO_DG
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition HPO_DG
★☆☆☆☆
Found in Text Mining only