Gene Gene information from NCBI Gene database.
Entrez ID 115701
Gene name Alpha kinase 2
Gene symbol ALPK2
Synonyms (NCBI Gene)
HAK
Chromosome 18
Chromosome location 18q21.31-q21.32
miRNA miRNA information provided by mirtarbase database.
83
miRTarBase ID miRNA Experiments Reference
MIRT438676 hsa-miR-214-3p ImmunohistochemistryImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot 23929716
MIRT438676 hsa-miR-214-3p ImmunohistochemistryImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot 23929716
MIRT779032 hsa-miR-1269 CLIP-seq
MIRT779033 hsa-miR-1269b CLIP-seq
MIRT779034 hsa-miR-1288 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0003007 Process Heart morphogenesis IEA
GO:0003007 Process Heart morphogenesis IMP 29888752
GO:0003308 Process Negative regulation of Wnt signaling pathway involved in heart development IMP 29888752
GO:0004674 Function Protein serine/threonine kinase activity IEA
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619965 20565 ENSG00000198796
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86TB3
Protein name Alpha-protein kinase 2 (EC 2.7.11.1) (Heart alpha-protein kinase)
Protein 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-cateni
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 12 104 Immunoglobulin I-set domain Domain
PF07679 I-set 1791 1875 Immunoglobulin I-set domain Domain
PF02816 Alpha_kinase 1926 2125 Alpha-kinase family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in developing cardiac tissue and cardiomyocytes (at protein level). {ECO:0000269|PubMed:29888752}.
Sequence
MKDSEGPQRPPLCFLSTLLSQKVPEKSDAVLRCIISGQPKPEVTWYKNGQAIDGSGIISN
YEFFENQYIHVLHLSCCTKNDAAVYQISAKNSFGMICCSASVEV
ECSSENPQLSPNLEDD
RDRGWKHETGTHEEERANQIDEKEHPYKEEESISPGTPRSADSSPSKSNHSLSLQSLGNL
DISVSSSENPLGVKGTRHTGEAYDPSNTEEIANGLLFLNSSHIYEKQDRCCHKTVHSMAS
KFTDGDLNNDGPHDEGLRSSQQNPKVQKYISFSLPLSEATAHIYPGDSAVANKQPSPQLS
SEDSDSDYELCPEITLTYTEEFSDDDLEYLECSDVMTDYSNAVWQRNLLGTEHVFLLESD
DEEMEFGEHCLGGCEHFLSGMGCGSRVSGDAGPMVATAGFCGHHSQPQEVGVRSSRVSKH
GPSSPQTGMTLILGPHQDGTSSVTEQGRYKLPTAPEAAENDYPGIQGETRDSHQAREEFA
SDNLLNMDESVRETEMKLLSGESENSGMSQCWETAADKRVGGKDLWSKRGSRKSARVRQP
GMKGNPKKPNANLRESTTEGTLHLCSAKESAEPPLTQSDKRETSHTTAAATGRSSHADAR
ECAISTQAEQEAKTLQTSTDSVSKEGNTNCKGEGMQVNTLFETSQVPDWSDPPQVQVQET
VRETISCSQMPAFSEPAGEESPFTGTTTISFSNLGGVHKENASLAQHSEVKPCTCGPQHE
EKQDRDGNIPDNFREDLKYEQSISEANDETMSPGVFSRHLPKDARADFREPVAVSVASPE
PTDTALTLENVCDEPRDREAVCAMECFEAGDQGTCFDTIDSLVGRPVDKYSPQEICSVDT
ELAEGQNKVSDLCSSNDKTLEVFFQTQVSETSVSTCKSSKDGNSVMSPLFTSTFTLNISH
TASEGATGENLAKVENSTYPLASTVHAGQEQPSPSNSGGLDETQLLSSENNPLVQFKEGG
DKSPSPSAADTTATPASYSSIVSFPWEKPTTLTANNECFQATRETEDTSTVTIATEVHPA
KYLAVSIPEDKHAGGTEERFPRASHEKVSQFPSQVQLDHILSGATIKSTKELLCRAPSVP
GVPHHVLQLPEGEGFCSNSPLQVDNLSGDKSQTVDRADFRSYEENFQERGSETKQGVQQQ
SLSQQGSLSAPDFQQSLPTTSAAQEERNLVPTAHSPASSREGAGQRSGWGTRVSVVAETA
GEEDSQALSNVPSLSDILLEESKEYRPGNWEAGNKLKIITLEASASEIWPPRQLTNSESK
ASDGGLIIPDKVWAVPDSLKADAVVPELAPSEIAALAHSPEDAESALADSRESHKGEEPT
ISVHWRSLSSRGFSQPRLLESSVDPVDEKELSVTDSLSAASETGGKENVNNVSQDQEEKQ
LKMDHTAFFKKFLTCPKILESSVDPIDEISVIEYTRAGKPEPSETTPQGAREGGQSNDGN
MGHEAEIQPAILQVPCLQGTILSENRISRSQEGSMKQEAEQIQPEEAKTAIWQVLQPSEG
GERIPSGCSIGQIQESSDGSLGEAEQSKKDKAELISPTSPLSSCLPIMTHASLGVDTHNS
TGQIHDVPENDIVEPRKRQYVFPVSQKRGTIENERGKPLPSSPDLTRFPCTSSPEGNVTD
FLISHKMEEPKIEVLQIGETKPPSSSSSSAKTLAFISGERELEKAPKLLQDPCQKGTLGC
AKKSREREKSLEARAGKSPGTLTAVTGSEEVKRKPEAPGSGHLAEGVKKKILSRVAALRL
KLEEKENIRKNSAFLKKMPKLETSLSHTEEKQDPKKPSCKREGRAPVLLKKIQAEMFPEH
SGNVKLSCQFAEIHEDSTICWTKDSKSIAQVQRSAGDNSTVSFAIVQASPKDQGLYYCCI
KNSYGKVTAEFNLTA
EVLKQLSSRQDTKGCEEIEFSQLIFKEDFLHDSYFGGRLRGQIAT
EELHFGEGVHRKAFRSTVMHGLMPVFKPGHACVLKVHNAIAYGTRNNDELIQRNYKLAAQ
ECYVQNTARYYAKIYAAEAQPLEGFGEVPEIIPIFLIHRPENNIPYATVEEELIGEFVKY
SIRDGKEINFLRRESEAGQKCCTFQHWVYQKTSGCLLVTDMQGVGMKLTDVGIATLAKGY
KGFKGNCSMTFIDQFKALHQCNKYC
KMLGLKSLQNNNQKQKQPSIGKSKVQTNSMTIKKA
GPETPGEKKT
Sequence length 2170
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALPK2-related disorder Uncertain significance; Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 30617256
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 24325739
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20187983, 35813220 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34705617 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28668886
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 35813220 Associate
★☆☆☆☆
Found in Text Mining only
Hepatitis C Hepatitis c Pubtator 33705408 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 23648141, 24325739, 7537711, 8393423, 9436038
★☆☆☆☆
Found in Text Mining only
Liver Cirrhosis Liver cirrhosis Pubtator 33705408 Associate
★☆☆☆☆
Found in Text Mining only
Liver Diseases Liver disease Pubtator 33705408 Associate
★☆☆☆☆
Found in Text Mining only