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    STK36 serine/threonine kinase 36 [ Homo sapiens (human) ]

    Gene ID: 27148, updated on 7-Apr-2024

    Summary

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    Official Symbol
    STK36provided by HGNC
    Official Full Name
    serine/threonine kinase 36provided by HGNC
    Primary source
    HGNC:HGNC:17209
    See related
    Ensembl:ENSG00000163482 MIM:607652; AllianceGenome:HGNC:17209
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FU; CILD46
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 24.8), gall bladder (RPKM 6.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q35
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218672086..218702717)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219158642..219189274)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219536809..219567440)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17128 Neighboring gene BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone Neighboring gene ring finger protein 25 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219563769-219564269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17129 Neighboring gene uncharacterized LOC124907983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12326 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:219584289-219584586 Neighboring gene tubulin tyrosine ligase like 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:219609538-219610737 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:219611731-219612930 Neighboring gene cytochrome P450 family 27 subfamily A member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. Edelbusch C, et al. Hum Mutat, 2017 Aug. PMID 28543983
    2. A synthetic lethal siRNA screen identifying genes mediating sensitivity to a PARP inhibitor. Turner NC, et al. EMBO J, 2008 May 7. PMID 18388863, Free PMC Article
    3. The FU gene and its possible protein isoforms. Østerlund T, et al. BMC Genomics, 2004 Jul 22. PMID 15268766, Free PMC Article
    4. Hedgehog signaling pathway and gastrointestinal stem cell signaling network (review). Katoh Y, et al. Int J Mol Med, 2006 Dec. PMID 17089004
    5. A possible role of mouse Fused (STK36) in Hedgehog signaling and Gli transcription factor regulation. Maloveryan A, et al. J Cell Commun Signal, 2007 Dec. PMID 18600476, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Serine/threonine kinase 36 induced epithelial-mesenchymal transition promotes docetaxel resistance in prostate cancer.
      Title: Serine/threonine kinase 36 induced epithelial-mesenchymal transition promotes docetaxel resistance in prostate cancer.
    2. Data identified homozygous loss-of-function mutations in STK36 in one PCD-affected individual with situs solitus. Transmission electron microscopy analysis demonstrates that STK36 is required for cilia orientation in human respiratory epithelial cells, with a probable localization of STK36 between the RS and CP. STK36 screening can now be included for this rare and difficult to diagnose PCD subgroup.
      Title: Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.
    3. Fu ubiquitination and cleavage is one of the key elements connecting the MID1-PP2A protein complex with GLI3 activity control
      Title: The E3 ubiquitin ligase MID1 catalyzes ubiquitination and cleavage of Fu.
    4. The FU gene and its genomic structure was identified.
      Title: The FU gene and its possible protein isoforms.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Ciliary dyskinesia, primary, 46
    MedGen: C5543646 OMIM: 619436 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1278, DKFZp434N0223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables transcription corepressor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in epithelial cilium movement involved in extracellular fluid movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in post-embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein kinase 36
    Names
    fused homolog
    testicular tissue protein Li 188
    NP_001230242.1
    NP_001356352.1
    NP_056505.2
    XP_011509261.1
    XP_016859293.2
    XP_047299887.1
    XP_047299888.1
    XP_054197357.1
    XP_054197358.1
    XP_054197359.1
    XP_054197360.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029739.1 RefSeqGene

      Range
      5061..35690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243313.2 → NP_001230242.1  serine/threonine-protein kinase 36 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2, also known as L-FUdelta24) that is shorter than isoform 1.
      Source sequence(s)
      AA524236, AB033104
      Consensus CDS
      CCDS58750.1
      UniProtKB/Swiss-Prot
      Q9NRP7
      Related
      ENSP00000375954.3, ENST00000392105.7
      Conserved Domains (2) summary
      smart00220
      Location:4 → 254
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14002
      Location:2 → 254
      STKc_STK36; Catalytic domain of Serine/Threonine Kinase 36

    2. NM_001369423.1 → NP_001356352.1  serine/threonine-protein kinase 36 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC009974
      Consensus CDS
      CCDS2421.1
      UniProtKB/Swiss-Prot
      B7WPM3, Q8TC32, Q9H9N9, Q9NRP7, Q9UF35, Q9ULE2
      UniProtKB/TrEMBL
      A0A140VJW1
      Related
      ENSP00000394095.1, ENST00000440309.5
      Conserved Domains (1) summary
      cd14002
      Location:2 → 254
      STKc_STK36; Catalytic domain of Serine/Threonine Kinase 36

    3. NM_015690.5 → NP_056505.2  serine/threonine-protein kinase 36 isoform 1

      See identical proteins and their annotated locations for NP_056505.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as long form or L-FU).
      Source sequence(s)
      AA524236, AB033104, AF200815, DB062910
      Consensus CDS
      CCDS2421.1
      UniProtKB/Swiss-Prot
      B7WPM3, Q8TC32, Q9H9N9, Q9NRP7, Q9UF35, Q9ULE2
      UniProtKB/TrEMBL
      A0A140VJW1
      Related
      ENSP00000295709.3, ENST00000295709.8
      Conserved Domains (1) summary
      cd14002
      Location:2 → 254
      STKc_STK36; Catalytic domain of Serine/Threonine Kinase 36

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      218672086..218702717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510959.3 → XP_011509261.1  serine/threonine-protein kinase 36 isoform X1

      Conserved Domains (2) summary
      smart00220
      Location:4 → 254
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd14002
      Location:2 → 254
      STKc_STK36; Catalytic domain of Serine/Threonine Kinase 36

    2. XM_047443932.1 → XP_047299888.1  serine/threonine-protein kinase 36 isoform X2

    3. XM_047443931.1 → XP_047299887.1  serine/threonine-protein kinase 36 isoform X1

    4. XM_017003804.3 → XP_016859293.2  serine/threonine-protein kinase 36 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219158642..219189274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341382.1 → XP_054197357.1  serine/threonine-protein kinase 36 isoform X1

    2. XM_054341384.1 → XP_054197359.1  serine/threonine-protein kinase 36 isoform X2

    3. XM_054341383.1 → XP_054197358.1  serine/threonine-protein kinase 36 isoform X1

    4. XM_054341385.1 → XP_054197360.1  serine/threonine-protein kinase 36 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRP7.2 GenPept UniProtKB/Swiss-Prot:Q9NRP7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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