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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
99
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ALPK2-related disorder Uncertain significance; Likely benign; Benign rs140442422, rs80083249, rs150887928, rs56323211, rs36075387, rs766688925, rs140972067, rs1420110099, rs61743671, rs138028987, rs371027763, rs753587692, rs56146550, rs145864025, rs75412529
View all (71 more)
RCV003960998
RCV003961000
RCV003943364
RCV003903674
RCV003926373
RCV003903680
RCV003943372
RCV003933761
RCV003903683
RCV003961017
RCV003943374
RCV004757538
RCV003943370
RCV003933756
RCV003973392
RCV003961028
RCV003926385
RCV003943392
RCV003943393
RCV003971296
RCV003961041
RCV003971299
RCV003903705
RCV003973408
RCV003943410
RCV003909343
RCV003974357
RCV003974360
RCV003974517
RCV003974557
RCV003974567
RCV003974589
RCV003974685
RCV003904175
RCV003979548
RCV003979635
RCV003967392
RCV003979807
RCV003979846
RCV003979862
RCV003979877
RCV003984640
RCV003984642
RCV003984662
RCV003982337
RCV003982364
RCV003982456
RCV003982461
RCV003982463
RCV003982478
RCV003979487
RCV003979524
RCV003982259
RCV003984500
RCV003984596
RCV003911414
RCV003961541
RCV003963988
RCV003972010
RCV003972028
RCV003972082
RCV003943834
RCV003914465
RCV003914532
RCV003924516
RCV003939308
RCV003951391
RCV003931954
RCV003979067
RCV003979090
RCV003964311
RCV003981880
RCV003982017
RCV003982118
RCV003982130
RCV003982179
RCV003982180
RCV003976608
RCV003976643
RCV003976710
RCV003978959
RCV003981327
RCV003976330
RCV003933308
RCV003943202
RCV003930564
Clear cell carcinoma of kidney Likely benign rs144079055 RCV005931927
Colorectal cancer Benign rs33910491 RCV005937139
Hepatocellular carcinoma Uncertain significance rs143254374 RCV005931806
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 20187983, 35813220
Carcinoma Renal Cell Associate 34705617
Esophageal Neoplasms Associate 35813220
Hepatitis C Associate 33705408
Liver Cirrhosis Associate 33705408
Liver Diseases Associate 33705408
Neoplasms Associate 20187983, 34705617
Neoplasms Stimulate 37284741
Ovarian Neoplasms Associate 36856946
Schwannomatosis Associate 32281771