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    STK32B serine/threonine kinase 32B [ Homo sapiens (human) ]

    Gene ID: 55351, updated on 6-Jun-2024

    Summary

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    Official Symbol
    STK32Bprovided by HGNC
    Official Full Name
    serine/threonine kinase 32Bprovided by HGNC
    Primary source
    HGNC:HGNC:14217
    See related
    Ensembl:ENSG00000152953 AllianceGenome:HGNC:14217
    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
    STK32; STKG6; YANK2; HSA250839
    Summary
    This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Broad expression in kidney (RPKM 2.0), testis (RPKM 1.4) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STK32B in Genome Data Viewer
    Location:
    4p16.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (5019386..5500989)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4989033..5470430)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (5053207..5502716)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928306 Neighboring gene uncharacterized LOC107986218 Neighboring gene RN7SK pseudogene 113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21236 Neighboring gene uncharacterized LOC107986256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:5044739-5045239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5053909-5054447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21237 Neighboring gene cytokine like 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:5135748-5136346 Neighboring gene Sharpr-MPRA regulatory region 6927 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:5155881-5156382 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:5167073-5168272 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:5200564-5201064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5206884-5207384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:5207385-5207885 Neighboring gene Sharpr-MPRA regulatory region 9083 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:5367115-5368314 Neighboring gene RN7SK pseudogene 275 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:5526681-5527880 Neighboring gene uncharacterized LOC124900166 Neighboring gene long intergenic non-protein coding RNA 1587 Neighboring gene EvC ciliary complex subunit 2

    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. Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor. Cao L, et al. J Mol Neurosci, 2023 May. PMID 36929462
    2. Changes in methylation within the STK32B promoter are associated with an increased risk for generalized anxiety disorder in adolescents. Ciuculete DM, et al. J Psychiatr Res, 2018 Jul. PMID 29604450
    3. Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population. Zhang Y, et al. Sci Rep, 2017 Aug 11. PMID 28801652, Free PMC Article
    4. Genome-wide association study in essential tremor identifies three new loci. Müller SH, et al. Brain, 2016 Dec. PMID 27797806, Free PMC Article
    5. Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Temtamy SA, et al. Hum Mutat, 2008 Jul. PMID 18454448

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. YANK2 activated by Fyn promotes glioma tumorigenesis via the mTOR-independent p70S6K activation pathway.
      Title: YANK2 activated by Fyn promotes glioma tumorigenesis via the mTOR-independent p70S6K activation pathway.
    2. Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor.
      Title: Association Analysis of 27 Single Nucleotide Polymorphisms in a Chinese Population with Essential Tremor.
    3. This results of this study provided evidence that shifts in DNA methylation within the STK32B promoter are associated with a modulated risk profile for generalized anxiety disorder in adolescence.
      Title: Changes in methylation within the STK32B promoter are associated with an increased risk for generalized anxiety disorder in adolescents.
    4. C allele of rs10937625 in STK32B is a protective factor for essential tremor in Chinese population.
      Title: Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.
    5. STK32B association with essential tremor.
      Title: Genome-wide association study in essential tremor identifies three new loci.
    6. STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations.
      Title: Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
    9. In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected
      Title: Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
    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

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.
    EBI GWAS Catalog
    Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein kinase 32B
    Names
    gene for serine/threonine protein kinase
    yet another novel kinase 2
    NP_001293011.1
    NP_001332898.1
    NP_060871.1
    XP_024309899.1
    XP_047271880.1
    XP_047271881.1
    XP_047271882.1
    XP_054206414.1
    XP_054206415.1
    XP_054206416.1
    XP_054206417.1
    XP_054206418.1

    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_051593.2 RefSeqGene

      Range
      37096..486605
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001306082.2 → NP_001293011.1  serine/threonine-protein kinase 32B isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC004664, AC096740, AJ250839, AK313846, BC069203
      Consensus CDS
      CCDS77895.1
      UniProtKB/TrEMBL
      E9PCC0
      Conserved Domains (1) summary
      cd05578
      Location:1 → 236
      STKc_Yank1; Catalytic domain of the Serine/Threonine Kinase, Yank1

    2. NM_001345969.2 → NP_001332898.1  serine/threonine-protein kinase 32B isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004664, AC092665, AC096740
      UniProtKB/TrEMBL
      A8K9I1, B2R9M8
      Conserved Domains (2) summary
      smart00220
      Location:23 → 240
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05578
      Location:22 → 253
      STKc_Yank1; Catalytic domain of the Serine/Threonine Kinase, Yank1

    3. NM_018401.3 → NP_060871.1  serine/threonine-protein kinase 32B isoform 1

      See identical proteins and their annotated locations for NP_060871.1

      Status: REVIEWED

      Source sequence(s)
      AC004664, AC096740, AJ250839, AK313846, BC069203
      Consensus CDS
      CCDS3380.1
      UniProtKB/Swiss-Prot
      Q6UXH3, Q8IY14, Q9NY57
      UniProtKB/TrEMBL
      A8K9I1, B2R9M8
      Related
      ENSP00000282908.5, ENST00000282908.10
      Conserved Domains (2) summary
      smart00220
      Location:23 → 270
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd05578
      Location:22 → 283
      STKc_Yank1; Catalytic domain of the Serine/Threonine Kinase, Yank1

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      5019386..5500989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415924.1 → XP_047271880.1  serine/threonine-protein kinase 32B isoform X1

    2. XM_047415925.1 → XP_047271881.1  serine/threonine-protein kinase 32B isoform X2

      UniProtKB/TrEMBL
      A8K9I1, B2R9M8

    3. XM_047415926.1 → XP_047271882.1  serine/threonine-protein kinase 32B isoform X3

      UniProtKB/TrEMBL
      E9PCC0

    4. XM_024454131.2 → XP_024309899.1  serine/threonine-protein kinase 32B isoform X3

      UniProtKB/TrEMBL
      E9PCC0
      Related
      ENSP00000420984.1, ENST00000510398.1
      Conserved Domains (1) summary
      cd05578
      Location:1 → 236
      STKc_Yank1; Catalytic domain of the Serine/Threonine Kinase, Yank1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      4989033..5470430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350439.1 → XP_054206414.1  serine/threonine-protein kinase 32B isoform X1

    2. XM_054350440.1 → XP_054206415.1  serine/threonine-protein kinase 32B isoform X2

      UniProtKB/TrEMBL
      A8K9I1, B2R9M8

    3. XM_054350441.1 → XP_054206416.1  serine/threonine-protein kinase 32B isoform X3

      UniProtKB/TrEMBL
      E9PCC0

    4. XM_054350443.1 → XP_054206418.1  serine/threonine-protein kinase 32B isoform X3

      UniProtKB/TrEMBL
      E9PCC0

    5. XM_054350442.1 → XP_054206417.1  serine/threonine-protein kinase 32B isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NY57.1 GenPept UniProtKB/Swiss-Prot:Q9NY57

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