U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 55351, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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. 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.
  2. 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.
  3. 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.
  4. STK32B association with essential tremor.
    Title: Genome-wide association study in essential tremor identifies three new loci.
  5. 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.
  6. 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.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
  8. 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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

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

  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

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

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

  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

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous