This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to conge... See more...

Aliases for STK36 Gene

Aliases for STK36 Gene

  • Serine/Threonine Kinase 36 2 3 5
  • Serine/Threonine-Protein Kinase 36 3 4
  • Fused Homolog 3 4
  • EC 2.7.11.1 4 50
  • KIAA1278 2 4
  • FU 2 3
  • Serine/Threonine Kinase 36 (Fused Homolog, Drosophila) 2
  • Testicular Tissue Protein Li 188 3
  • Fused Homolog (Drosophila) 2
  • EC 2.7.11 50
  • STK36 5

External Ids for STK36 Gene

Previous GeneCards Identifiers for STK36 Gene

  • GC02P217552
  • GC02P218258
  • GC02P219500
  • GC02P219739
  • GC02P219362
  • GC02P219245
  • GC02P219536
  • GC02P211390

Summaries for STK36 Gene

Entrez Gene Summary for STK36 Gene

  • This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for STK36 Gene

STK36 (Serine/Threonine Kinase 36) is a Protein Coding gene. Diseases associated with STK36 include Primary Ciliary Dyskinesia and Hydrocephalus. Among its related pathways are G-Beta Gamma Signaling and Hedgehog signaling events mediated by Gli proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ULK4.

UniProtKB/Swiss-Prot Summary for STK36 Gene

  • Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function (By similarity). Essential for construction of the central pair apparatus of motile cilia.

Gene Wiki entry for STK36 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STK36 Gene

Genomics for STK36 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STK36 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 STK36 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STK36

Top Transcription factor binding sites by QIAGEN in the STK36 gene promoter:
  • AP-1
  • ATF-2
  • CREB
  • deltaCREB
  • E2F-3a
  • E2F-4
  • GR
  • GR-alpha
  • GR-beta
  • p53

Genomic Locations for STK36 Gene

Latest Assembly
chr2:218,672,049-218,702,717
(GRCh38/hg38)
Size:
30,669 bases
Orientation:
Plus strand

Previous Assembly
chr2:219,536,809-219,567,440
(GRCh37/hg19 by Entrez Gene)
Size:
30,632 bases
Orientation:
Plus strand

chr2:219,536,749-219,567,439
(GRCh37/hg19 by Ensembl)
Size:
30,691 bases
Orientation:
Plus strand

Genomic View for STK36 Gene

Genes around STK36 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STK36 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STK36 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STK36 Gene

Proteins for STK36 Gene

  • Protein details for STK36 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRP7-STK36_HUMAN
    Recommended name:
    Serine/threonine-protein kinase 36
    Protein Accession:
    Q9NRP7
    Secondary Accessions:
    • B7WPM3
    • Q8TC32
    • Q9H9N9
    • Q9UF35
    • Q9ULE2

    Protein attributes for STK36 Gene

    Size:
    1315 amino acids
    Molecular mass:
    143995 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with GLI1, GLI2 and GLI3 (PubMed:10806483). Interacts with SPAG16 and KIF27.
    SequenceCaution:
    • Sequence=BAA86592.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14184.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for STK36 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STK36 Gene

Selected DME Specific Peptides for STK36 Gene

Q9NRP7:
  • MIGEGSFGR
  • VLTSIKGTPLYM
  • LVSALYYLHS
  • WSVGCIL

Post-translational modifications for STK36 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for STK36 Gene

Gene Families for STK36 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for STK36 Gene

Suggested Antigen Peptide Sequences for STK36 Gene

GenScript: Design optimal peptide antigens:
  • Fused homolog (STK36_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRP7

UniProtKB/Swiss-Prot:

STK36_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with STK36: view

Function for STK36 Gene

Molecular function for STK36 Gene

UniProtKB/Swiss-Prot Function:
Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors (PubMed:10806483). Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization (PubMed:10806483). GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur (PubMed:10806483). Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function (By similarity). Essential for construction of the central pair apparatus of motile cilia.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000250|UniProtKB:P23647};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000250|UniProtKB:P23647};.

Enzyme Numbers (IUBMB) for STK36 Gene

Phenotypes From GWAS Catalog for STK36 Gene

Gene Ontology (GO) - Molecular Function for STK36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,TAS 10806483
GO:0005515 protein binding IPI 10806483
GO:0005524 ATP binding IEA,TAS 10806483
genes like me logo Genes that share ontologies with STK36: view
genes like me logo Genes that share phenotypes with STK36: view

Human Phenotype Ontology for STK36 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STK36 Gene

MGI Knock Outs for STK36:

Animal Models for research

  • Taconic Biosciences Mouse Models for STK36

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STK36

No data available for Transcription Factor Targets and HOMER Transcription for STK36 Gene

Localization for STK36 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STK36 Gene

Cytoplasm. Nucleus. Note=Low levels also present in the nucleus. {ECO:0000269 PubMed:10806483}.

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 STK36 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 3
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for STK36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IEA,IDA 10806483
GO:0005737 cytoplasm IBA,IDA 10806483
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with STK36: view

Pathways & Interactions for STK36 Gene

PathCards logo

SuperPathways for STK36 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.71
2 G-Beta Gamma Signaling
.32
3 ERK Signaling
.51
4 Sweet Taste Signaling
.37
5 Hedgehog signaling events mediated by Gli proteins
genes like me logo Genes that share pathways with STK36: view

Pathways by source for STK36 Gene

4 Qiagen pathways for STK36 Gene
  • Activation of PKA through GPCR
  • Hedgehog Signaling in Mammals
  • Molecular Mechanisms of Cancer
  • Sperm Motility

SIGNOR curated interactions for STK36 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for STK36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003351 epithelial cilium movement IEA --
GO:0006468 protein phosphorylation IEA,TAS 10806483
GO:0007224 smoothened signaling pathway IMP 31279575
GO:0007228 positive regulation of hh target transcription factor activity IBA,ISS --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with STK36: view

Drugs & Compounds for STK36 Gene

(3) Drugs for STK36 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for STK36 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with STK36: view

Transcripts for STK36 Gene

mRNA/cDNA for STK36 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
16 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 STK36

Alternative Splicing Database (ASD) splice patterns (SP) for STK36 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - - - -
SP2: - - - - - -
SP3:
SP4: -
SP5: -
SP6: - - - - -
SP7: - -
SP8:
SP9:
SP10: -
SP11: -
SP12:
SP13:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31
SP1: - -
SP2: - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for STK36 Gene

GeneLoc Exon Structure for
STK36

Expression for STK36 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STK36 Gene

Protein differential expression in normal tissues from HIPED for STK36 Gene

This gene is overexpressed in Bone (62.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STK36 Gene



Protein tissue co-expression partners for STK36 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STK36

SOURCE GeneReport for Unigene cluster for STK36 Gene:

Hs.471404

mRNA Expression by UniProt/SwissProt for STK36 Gene:

Q9NRP7-STK36_HUMAN
Tissue specificity: Expressed at low levels in most fetal tissues, adult ovaries and at high levels in adult testis, where it is localized in germ cells.

Evidence on tissue expression from TISSUES for STK36 Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with STK36: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for STK36 Gene

Orthologs for STK36 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STK36 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STK36 29 30
  • 99.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STK36 29 30
  • 88.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STK36 29 30
  • 88.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stk36 29 16 30
  • 85.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stk36 29
  • 85.68 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia STK36 30
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STK36 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves STK36 29 30
  • 61.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STK36 30
  • 52 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii stk36 30
  • 34 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta fu 30 31
  • 31 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea air-1 30
  • 28 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IPL1 30
  • 23 (a)
OneToMany
FMP48 32
Rice
(Oryza sativa)
Liliopsida Os.24564 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToOne
Species where no ortholog for STK36 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for STK36 Gene

ENSEMBL:
Gene Tree for STK36 (if available)
TreeFam:
Gene Tree for STK36 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STK36: view image
Alliance of Genome Resources:
Additional Orthologs for STK36

Paralogs for STK36 Gene

Paralogs for STK36 Gene

genes like me logo Genes that share paralogs with STK36: view

Variants for STK36 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STK36 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs124482927 A breast pleomorphic lobular carcinoma sample p.Ser660Cys
rs13023540 Benign: not provided 218,696,531(+) G/Ap.Arg839Gln
NM_015690.5(STK36):c.2516G>A (p.Arg839Gln)
MISSENSE_VARIANT,INTRON
rs1344642 Benign: not specified 218,690,539(+) G/Ap.Arg583Gln
NM_015690.5(STK36):c.1748G>A (p.Arg583Gln)
MISSENSE
rs139073740 Benign: not provided 218,694,266(+) T/C
NM_015690.5(STK36):c.2339T>C (p.Met780Thr)
MISSENSE
rs141511662 Likely Benign: not provided 218,688,735(+) G/A
NM_015690.5(STK36):c.1419G>A (p.Leu473=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STK36 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 STK36 Gene

Variant ID Type Subtype PubMed ID
esv33891 CNV loss 17666407

Variation tolerance for STK36 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.64; 97.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STK36 Gene

Human Gene Mutation Database (HGMD)
STK36
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STK36
Leiden Open Variation Database (LOVD)
STK36

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STK36 Gene

Disorders for STK36 Gene

MalaCards: The human disease database

(7) MalaCards diseases for STK36 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • ciliary motility disorder
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
cervical large cell neuroendocrine carcinoma
chromosome 2q35 duplication syndrome
  • syndactyly, type i; sdty1
papillary serous adenocarcinoma
  • micropapillary serous carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search STK36 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for STK36

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 STK36: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STK36 Gene

Publications for STK36 Gene

  1. Gli regulation by the opposing activities of fused and suppressor of fused. (PMID: 10806483) Murone M … de Sauvage FJ (Nature cell biology 2000) 2 3 4
  2. Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. (PMID: 28543983) Edelbusch C … Omran H (Human mutation 2017) 3 72
  3. A possible role of mouse Fused (STK36) in Hedgehog signaling and Gli transcription factor regulation. (PMID: 18600476) Maloveryan A … Kogerman P (Journal of cell communication and signaling 2007) 3 22
  4. Fused kinase is stabilized by Cdc37/Hsp90 and enhances Gli protein levels. (PMID: 17054904) Kise Y … Miki H (Biochemical and biophysical research communications 2006) 3 22
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for STK36 Gene

Sources for STK36 Gene