ALPK2 alpha kinase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALPK2provided by HGNC
Official Full Name: alpha kinase 2provided by HGNC
Primary source: HGNC:HGNC:20565
See related: Ensembl:ENSG00000198796 MIM:619965; AllianceGenome:HGNC:20565
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HAK
Summary: Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in several processes, including epicardium morphogenesis; heart development; and negative regulation of Wnt signaling pathway involved in heart development. Acts upstream of or within regulation of gene expression. Colocalizes with basolateral plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart (RPKM 9.8), lymph node (RPKM 2.0) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.31-q21.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (58481247..58629091, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (58681900..58830246, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (56148479..56296323, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hsa_circ_0065217 promotes growth and metastasis of renal cancer through regulating the miR-214-3p-ALPK2 axis.
Title: Hsa_circ_0065217 promotes growth and metastasis of renal cancer through regulating the miR-214-3p-ALPK2 axis.
ALPK2 acts as tumor promotor in development of bladder cancer through targeting DEPDC1A.
Title: ALPK2 acts as tumor promotor in development of bladder cancer through targeting DEPDC1A.
A genomic variant of ALPK2 is associated with increased liver fibrosis risk in HIV/HCV coinfected women.
Title: A genomic variant of ALPK2 is associated with increased liver fibrosis risk in HIV/HCV coinfected women.
Knockdown of ALPK2 blocks development and progression of renal cell carcinoma.
Title: Knockdown of ALPK2 blocks development and progression of renal cell carcinoma.
Results showed that p.Q1853E variant of ALPK2, which had been accumulating in the Japanese population, induced a metastatic phenotype of colorectal tumors by disrupting ALPK2 function.
Title: An Alpha-kinase 2 Gene Variant Disrupts Filamentous Actin Localization in the Surface Cells of Colorectal Cancer Spheroids.
ALPK2 is crucial for luminal apoptosis and expression of DNA repair-related genes, possibly in the transition of normal colonic crypt to adenoma.
Title: ALPK2 is crucial for luminal apoptosis and DNA repair-related gene expression in a three-dimensional colonic-crypt model.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping.

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
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 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

D18S881 (e-PCR)
- UniSTS:594

SHGC-145775 (e-PCR)
- UniSTS:183140

RH99213 (e-PCR)
- UniSTS:86241

G18021 (e-PCR)
- UniSTS:7401

STS-R27572 (e-PCR)
- UniSTS:18670

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP 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	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epicardium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Wnt signaling pathway involved in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with basolateral plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: alpha-protein kinase 2

Names: heart alpha-kinase; heart alpha-protein kinase

NP_443179.3

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.

mRNA and Protein(s)

NM_052947.4 → NP_443179.3 alpha-protein kinase 2

See identical proteins and their annotated locations for NP_443179.3

Status: VALIDATED

Source sequence(s)

AC104971, AC105105

Consensus CDS

CCDS11966.2

UniProtKB/Swiss-Prot

Q6ZUX0, Q86TB3, Q8NAT5, Q96L95

Related

ENSP00000354991.3, ENST00000361673.4

Conserved Domains (5) summary

cd00096
Location:29 → 101

Ig; Immunoglobulin domain

smart00408
Location:1802 → 1865

IGc2; Immunoglobulin C-2 Type

smart00410
Location:1802 → 1874

IG_like; Immunoglobulin like

smart00811
Location:1905 → 2125

Alpha_kinase; Alpha-kinase family

pfam07679
Location:14 → 104

I-set; Immunoglobulin I-set domain