Aliases for ALPK2 Gene

Aliases for ALPK2 Gene

  • Alpha Kinase 2 2 3 5
  • HAK 2 3 4
  • Heart Alpha-Protein Kinase 3 4
  • Alpha-Protein Kinase 2 3 4
  • Heart Alpha-Kinase 2 3
  • EC 2.7.11.1 4
  • ALPK2 5

External Ids for ALPK2 Gene

Previous GeneCards Identifiers for ALPK2 Gene

  • GC18M054300
  • GC18M056148
  • GC18M052856

Summaries for ALPK2 Gene

GeneCards Summary for ALPK2 Gene

ALPK2 (Alpha Kinase 2) is a Protein Coding gene. Diseases associated with ALPK2 include Neurilemmomatosis and Coffin-Siris Syndrome 1. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is ALPK1.

UniProtKB/Swiss-Prot Summary for ALPK2 Gene

  • Protein kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation (PubMed:10021370). Regulates cardiac development and cardiomyocyte differentiation by negatively regulating Wnt/beta-catenin signaling (PubMed:29888752).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALPK2 Gene

Genomics for ALPK2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALPK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J058625 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 603.6 +1.2 1152 4.3 GATAD2A ZIC2 CEBPA SCRT2 ZBTB44 ZNF580 ZSCAN18 ZNF335 SMAD4 FEZF1 ALPK2 SNORA108 NEDD4L
GH18J058630 Enhancer 0.2 ENCODE 600.7 -1.2 -1164 0.1 ALPK2 RPL9P31 lnc-MALT1-5 piR-33614-127 MALT1
GH18J058575 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8 +50.3 50280 6.8 GATAD2A CTCF TEAD4 PRDM10 RXRB SP1 ZNF792 SOX13 ZBTB44 CEBPB lnc-RAX-6 MALT1 SNORA108 ALPK2 lnc-RAX-7 ENSG00000267579 NEDD4L
GH18J058563 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.6 +62.3 62268 9.2 SP1 GATAD2A PRDM10 ZNF512 BACH1 STAT3 JUND RELA ZIC2 TCF12 MALT1 SNORA108 ALPK2 ENSG00000267579 LOC105372145 lnc-RAX-6 NEDD4L
GH18J058589 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.2 +37.3 37335 4.1 TEAD4 PRDM10 SP1 CEBPB EZH2 NR2C2 TEAD1 ZNF513 BCL6 HNF4A ALPK2 MALT1 piR-50444-202 lnc-RAX-7 NEDD4L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALPK2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALPK2

Top Transcription factor binding sites by QIAGEN in the ALPK2 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • FOXJ2
  • FOXJ2 (long isoform)
  • HOXA5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ALPK2 Gene

Genomic Locations for ALPK2 Gene
chr18:58,481,247-58,629,091
(GRCh38/hg38)
Size:
147,845 bases
Orientation:
Minus strand
chr18:56,148,479-56,296,189
(GRCh37/hg19)
Size:
147,711 bases
Orientation:
Minus strand

Genomic View for ALPK2 Gene

Genes around ALPK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALPK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALPK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALPK2 Gene

Proteins for ALPK2 Gene

  • Protein details for ALPK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TB3-ALPK2_HUMAN
    Recommended name:
    Alpha-protein kinase 2
    Protein Accession:
    Q86TB3
    Secondary Accessions:
    • Q6ZUX0
    • Q8NAT5
    • Q96L95

    Protein attributes for ALPK2 Gene

    Size:
    2170 amino acids
    Molecular mass:
    237013 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK95952.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAK95952.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAC03812.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC03812.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BX647796; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAD89922.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ALPK2 Gene

Post-translational modifications for ALPK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALPK2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALPK2 Gene

Domains & Families for ALPK2 Gene

Gene Families for ALPK2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ALPK2 Gene

GenScript: Design optimal peptide antigens:
  • Heart alpha-protein kinase (ALPK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86TB3

UniProtKB/Swiss-Prot:

ALPK2_HUMAN :
  • Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
Family:
  • Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
genes like me logo Genes that share domains with ALPK2: view

Function for ALPK2 Gene

Molecular function for ALPK2 Gene

UniProtKB/Swiss-Prot Function:
Protein kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation (PubMed:10021370). Regulates cardiac development and cardiomyocyte differentiation by negatively regulating Wnt/beta-catenin signaling (PubMed:29888752).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000305|PubMed:29888752};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000305};.

Enzyme Numbers (IUBMB) for ALPK2 Gene

Phenotypes From GWAS Catalog for ALPK2 Gene

Gene Ontology (GO) - Molecular Function for ALPK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ALPK2: view
genes like me logo Genes that share phenotypes with ALPK2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ALPK2

CRISPR Products

miRNA for ALPK2 Gene

miRTarBase miRNAs that target ALPK2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALPK2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ALPK2 Gene

Localization for ALPK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALPK2 Gene

Basolateral cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALPK2 gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALPK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016323 colocalizes_with basolateral plasma membrane IMP 28668886
genes like me logo Genes that share ontologies with ALPK2: view

Pathways & Interactions for ALPK2 Gene

PathCards logo

SuperPathways for ALPK2 Gene

No Data Available

Interacting Proteins for ALPK2 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000354991 Q86TB3-ALPK2_HUMAN for ALPK2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for ALPK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003007 heart morphogenesis IMP 29888752
GO:0003308 negative regulation of Wnt signaling pathway involved in heart development IMP 29888752
GO:0006468 protein phosphorylation IEA --
GO:0010468 regulation of gene expression IMP 22641666
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with ALPK2: view

No data available for Pathways by source and SIGNOR curated interactions for ALPK2 Gene

Drugs & Compounds for ALPK2 Gene

No Compound Related Data Available

Transcripts for ALPK2 Gene

mRNA/cDNA for ALPK2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALPK2

Alternative Splicing Database (ASD) splice patterns (SP) for ALPK2 Gene

No ASD Table

Relevant External Links for ALPK2 Gene

GeneLoc Exon Structure for
ALPK2

Expression for ALPK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALPK2 Gene

mRNA differential expression in normal tissues according to GTEx for ALPK2 Gene

This gene is overexpressed in Heart - Left Ventricle (x14.3), Heart - Atrial Appendage (x12.8), and Muscle - Skeletal (x11.1).

Protein differential expression in normal tissues from HIPED for ALPK2 Gene

This gene is overexpressed in Frontal cortex (55.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALPK2 Gene



Protein tissue co-expression partners for ALPK2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALPK2

SOURCE GeneReport for Unigene cluster for ALPK2 Gene:

Hs.628152

mRNA Expression by UniProt/SwissProt for ALPK2 Gene:

Q86TB3-ALPK2_HUMAN
Tissue specificity: Expressed in developing cardiac tissue and cardiomyocytes (at protein level).

Evidence on tissue expression from TISSUES for ALPK2 Gene

  • Heart(4.6)
  • Muscle(4.5)
genes like me logo Genes that share expression patterns with ALPK2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ALPK2 Gene

Orthologs for ALPK2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALPK2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ALPK2 30 31
  • 96.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ALPK2 30 31
  • 77.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ALPK2 30 31
  • 74.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Alpk2 30 17 31
  • 71.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Alpk2 30
  • 69.89 (n)
Oppossum
(Monodelphis domestica)
Mammalia ALPK2 31
  • 45 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ALPK2 31
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ALPK2 31
  • 75 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ALPK2 31
  • 59 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii alpk2 31
  • 27 (a)
OneToOne
Species where no ortholog for ALPK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ALPK2 Gene

ENSEMBL:
Gene Tree for ALPK2 (if available)
TreeFam:
Gene Tree for ALPK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALPK2: view image

Paralogs for ALPK2 Gene

Paralogs for ALPK2 Gene

genes like me logo Genes that share paralogs with ALPK2: view

Variants for ALPK2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALPK2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
710666 Benign: not provided 58,580,287(-) G/A SYNONYMOUS_VARIANT
771772 Benign: not provided 58,517,111(-) G/A MISSENSE_VARIANT
788135 Benign: not provided 58,504,010(-) T/C SYNONYMOUS_VARIANT
788136 Benign: not provided 58,535,612(-) C/T SYNONYMOUS_VARIANT
rs3809976 -. - p.Leu1296Valp.Leu1057Val

Additional dbSNP identifiers (rs#s) for ALPK2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ALPK2 Gene

Variant ID Type Subtype PubMed ID
dgv992e212 CNV gain 25503493
esv2442112 CNV insertion 19546169
esv2717161 CNV deletion 23290073
esv3574086 CNV gain 25503493
esv3583095 CNV loss 25503493
esv3642649 CNV loss 21293372
nsv1110719 CNV insertion 24896259
nsv1138630 CNV deletion 24896259
nsv1151891 CNV insertion 26484159
nsv458089 CNV loss 19166990
nsv521388 CNV loss 19592680
nsv577049 CNV loss 21841781

Variation tolerance for ALPK2 Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 27.86; 99.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALPK2 Gene

Human Gene Mutation Database (HGMD)
ALPK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALPK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALPK2 Gene

Disorders for ALPK2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ALPK2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neurilemmomatosis
  • schwannomatosis 1
coffin-siris syndrome 1
  • css1
- elite association - COSMIC cancer census association via MalaCards
Search ALPK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ALPK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ALPK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALPK2 Gene

Publications for ALPK2 Gene

  1. Alpha-kinases: a new class of protein kinases with a novel catalytic domain. (PMID: 10021370) Ryazanov AG … Dorovkov MV (Current biology : CB 1999) 2 3 4
  2. ALPK2 Promotes Cardiogenesis in Zebrafish and Human Pluripotent Stem Cells. (PMID: 29888752) Hofsteen P … Murry CE (iScience 2018) 3 4
  3. An Alpha-kinase 2 Gene Variant Disrupts Filamentous Actin Localization in the Surface Cells of Colorectal Cancer Spheroids. (PMID: 28668886) Nishi K … Tsunoda T (Anticancer research 2017) 3 4
  4. Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping. (PMID: 19690890) McDonough CW … Bowden DW (Human genetics 2009) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ALPK2 Gene

Sources for ALPK2 Gene