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

Summary

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

Location:: 4p16.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (5019386..5500989)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (4989033..5470430)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (5053207..5502716)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

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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 EBI GWAS CatalogPubMed
Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Two-marker association tests yield new disease associations for coronary artery disease and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-51081 (e-PCR)
- UniSTS:64524

D4S511 (e-PCR)
- UniSTS:35088

G60117 (e-PCR)
- UniSTS:137240

D4S909 (e-PCR)
- UniSTS:42520

D4S1387 (e-PCR)
- UniSTS:10788

D4S2732 (e-PCR)
- UniSTS:65316

D4S527 (e-PCR)
- UniSTS:39462

SHGC-57609 (e-PCR)
- UniSTS:74285

G34218 (e-PCR)
- UniSTS:44077

D4S2285 (e-PCR)
- UniSTS:149058

G16708 (e-PCR)
- UniSTS:69192

D4S543 (e-PCR)
- UniSTS:30290

RH102777 (e-PCR)
- UniSTS:97111

D4S576 (e-PCR)
- UniSTS:59260

D4S1363 (e-PCR)
- UniSTS:5504

RH123204 (e-PCR)
- UniSTS:135586

SHGC-142429 (e-PCR)
- UniSTS:171453

SHGC-107572 (e-PCR)
- UniSTS:170455

MARC_23858-23860:1025288948:1 (e-PCR)
- UniSTS:268785

SHGC-60305 (e-PCR)
- UniSTS:77303

D4S842 (e-PCR)
- UniSTS:27127

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-phosphoinositide-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables Rho-dependent protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info
enables eukaryotic translation initiation factor 2alpha kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AS121 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AT120 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS14 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2BS36 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S10 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S28 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3S57 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T11 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T3 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T45 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3T6 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H4S1 kinase activity	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
enables ribosomal protein S6 kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	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

EC 2.7.11.1

NP_001332898.1

EC 2.7.11.1

NP_060871.1

EC 2.7.11.1

XP_024309899.1

EC 2.7.11.1

XP_047271880.1

EC 2.7.11.1

XP_047271881.1

EC 2.7.11.1

XP_047271882.1

EC 2.7.11.1

XP_054206414.1

EC 2.7.11.1

XP_054206415.1

EC 2.7.11.1

XP_054206416.1

EC 2.7.11.1

XP_054206417.1

EC 2.7.11.1

XP_054206418.1

EC 2.7.11.1

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

NG_051593.2 RefSeqGene

Range

37096..486605

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

5019386..5500989

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047415924.1 → XP_047271880.1 serine/threonine-protein kinase 32B isoform X1
XM_047415925.1 → XP_047271881.1 serine/threonine-protein kinase 32B isoform X2

UniProtKB/TrEMBL

A8K9I1, B2R9M8
XM_047415926.1 → XP_047271882.1 serine/threonine-protein kinase 32B isoform X3

UniProtKB/TrEMBL

E9PCC0
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

NC_060928.1 Alternate T2T-CHM13v2.0

Range

4989033..5470430

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350439.1 → XP_054206414.1 serine/threonine-protein kinase 32B isoform X1
XM_054350440.1 → XP_054206415.1 serine/threonine-protein kinase 32B isoform X2

UniProtKB/TrEMBL

A8K9I1, B2R9M8
XM_054350441.1 → XP_054206416.1 serine/threonine-protein kinase 32B isoform X3

UniProtKB/TrEMBL

E9PCC0
XM_054350443.1 → XP_054206418.1 serine/threonine-protein kinase 32B isoform X3

UniProtKB/TrEMBL

E9PCC0
XM_054350442.1 → XP_054206417.1 serine/threonine-protein kinase 32B isoform X4