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ALPK2 alpha kinase 2 [ Homo sapiens (human) ]

Gene ID: 115701, updated on 21-Dec-2019

Summary

Official Symbol
ALPK2provided by HGNC
Official Full Name
alpha kinase 2provided by HGNC
Primary source
HGNC:HGNC:20565
See related
Ensembl:ENSG00000198796
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
Expression
Biased expression in heart (RPKM 9.8), lymph node (RPKM 2.0) and 4 other tissues See more
Orthologs

Genomic context

See ALPK2 in Genome Data Viewer
Location:
18q21.31-q21.32
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (58481247..58629091, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56148479..56296189, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985182 Neighboring gene microRNA 3591 Neighboring gene microRNA 122 Neighboring gene uncharacterized LOC105372145 Neighboring gene ALPK2 eExon liver enhancer Neighboring gene small nucleolar RNA, H/ACA box 108 Neighboring gene ribosomal protein L9 pseudogene 31 Neighboring gene uncharacterized LOC102724745

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34875, FLJ43253

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cardiac muscle cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
epicardium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Wnt signaling pathway involved in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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

Preferred Names
alpha-protein kinase 2
Names
heart alpha-kinase
heart alpha-protein kinase
NP_443179.3

NCBI Reference Sequences (RefSeq)

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)

  1. NM_052947.4NP_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
    Q86TB3
    Related
    ENSP00000354991.3, ENST00000361673.4
    Conserved Domains (5) summary
    cd00096
    Location:29101
    Ig; Immunoglobulin domain
    smart00408
    Location:18021865
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:18021874
    IG_like; Immunoglobulin like
    smart00811
    Location:19052125
    Alpha_kinase; Alpha-kinase family
    pfam07679
    Location:14104
    I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    58481247..58629091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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