Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57538
Gene name Gene Name - the full gene name approved by the HGNC.
Alpha kinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALPK3
Synonyms (NCBI Gene) Gene synonyms aliases
CMH27, MAK, MIDORI
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMH27
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.3
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs200889953 C>T Likely-pathogenic Coding sequence variant, stop gained
rs370072439 G>T Likely-pathogenic Coding sequence variant, stop gained
rs527847958 ->CCAGG Conflicting-interpretations-of-pathogenicity, uncertain-significance Upstream transcript variant
rs541612157 C>T Likely-pathogenic Stop gained, coding sequence variant
rs745688425 C>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030251 hsa-miR-26b-5p Microarray 19088304
MIRT491041 hsa-miR-8485 PAR-CLIP 23592263
MIRT491040 hsa-miR-4716-3p PAR-CLIP 23592263
MIRT491039 hsa-miR-6794-5p PAR-CLIP 23592263
MIRT491038 hsa-miR-7515 PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus ISS
GO:0006468 Process Protein phosphorylation IEA
GO:0007507 Process Heart development ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617608 17574 ENSG00000136383
Protein
UniProt ID Q96L96
Protein name Alpha-protein kinase 3 (EC 2.7.11.1) (Muscle alpha-protein kinase)
Protein function Involved in cardiomyocyte differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 279 371 Immunoglobulin I-set domain Domain
PF02816 Alpha_kinase 1620 1819 Alpha-kinase family Family
Sequence
MEVAWLVYVLGQQPLARQGEGQSRLVPGRGLVLWLPGLPRSSPSWPAVDLAPLAPARPRG
PLICHTGHEQAGREPGPGSSTKGPVLHDQDTRCAFLPRPPGPLQTRRYCRHQGRQGSGLG
AGPGAGTWAPAPPGVSKPRCPGRARPGEGQQQVTTARPPAINRGARQPRAGAAAAGRGPG
AGAWRTGEAAASAGPAVGEGGAMGSRRAPSRGWGAGGRSGAGGDGEDDGPVWIPSPASRS
YLLSVRPETSLSSNRLSHPSSGRSTFCSIIAQLTEETQPLFETTLKSRSVSEDSDVRFTC
IVTGYPEPEVTWYKDDTELDRYCGLPKYEITHQGNRHTLQLYRCREEDAAIYQASAQNSK
GIVSCSGVLEV
GTMTEYKIHQRWFAKLKRKAAAKLREIEQSWKHEKAVPGEVDTLRKLSP
DRFQRKRRLSGAQAPGPSVPTREPEGGTLAAWQEGETETAQHSGLGLINSFASGEVTTNG
EAAPENGEDGEHGLLTYICDAMELGPQRALKEESGAKKKKKDEESKQGLRKPELEKAAQS
RRSSENCIPSSDEPDSCGTQGPVGVEQVQTQPRGRAARGPGSSGTDSTRKPASAVGTPDK
AQKAPGPGPGQEVYFSLKDMYLENTQAVRPLGEEGPQTLSVRAPGESPKGKAPLRARSEG
VPGAPGQPTHSLTPQPTRPFNRKRFAPPKPKGEATTDSKPISSLSQAPECGAQSLGKAPP
QASVQVPTPPARRRHGTRDSTLQGQAGHRTPGEVLECQTTTAPTMSASSSSDVASIGVST
SGSQGIIEPMDMETQEDGRTSANQRTGSKKNVQADGKIQVDGRTRGDGTQTAQRTRADRK
TQVDAGTQESKRPQSDRSAQKGMMTQGRAETQLETTQAGEKIQEDRKAQADKGTQEDRRM
QGEKGMQGEKGTQSEGSAPTAMEGQSEQEVATSLGPPSRTPKLPPTAGPRAPLNIECFVQ
TPEGSCFPKKPGCLPRSEEAVVTASRNHEQTVLGPLSGNLMLPAQPPHEGSVEQVGGERC
RGPQSSGPVEAKQEDSPFQCPKEERPGGVPCMDQGGCPLAGLSQEVPTMPSLPGTGLTAS
PKAGPCSTPTSQHGSTATFLPSEDQVLMSSAPTLHLGLGTPTQSHPPETMATSSEGACAQ
VPDVEGRTPGPRSCDPGLIDSLKNYLLLLLKLSSTETSGAGGESQVGAATGGLVPSATLT
PTVEVAGLSPRTSRRILERVENNHLVQSAQTLLLSPCTSRRLTGLLDREVQAGRQALAAA
RGSWGPGPSSLTVPAIVVDEEDPGLASEGASEGEGEVSPEGPGLLGASQESSMAGRLGEA
GGQAAPGQGPSAESIAQEPSQEEKFPGEALTGLPAATPEELALGARRKRFLPKVRAAGDG
EATTPEERESPTVSPRGPRKSLVPGSPGTPGRERRSPTQGRKASMLEVPRAEEELAAGDL
GPSPKAGGLDTEVALDEGKQETLAKPRKAKDLLKAPQVIRKIRVEQFPDASGSLKLWCQF
FNILSDSVLTWAKDQRPVGEVGRSAGDEGPAALAIVQASPVDCGVYRCTIHNEHGSASTD
FCLSPEVLSGFISREEGEVGEEIEMTPMVFAKGLADSGCWGDKLFGRLVSEELRGGGYGC
GLRKASQAKVIYGLEPIFESGRTCIIKVSSLLVFGPSSETSLVGRNYDVTIQGCKIQNMS
REYCKIFAAEARAAPGFGEVPEIIPLYLIYRPANNIPYATLEEDLGKPLESYCSREWGCA
EAPTASGSSEAMQKCQTFQHWLYQWTNGSFLVTDLAGVDWKMTDVQIATKLRGYQGLKES
CFPALLDRFASSHQCNAYC
ELLGLTPLKGPEAAHPQAKAKGSKSPSAGRKGSQLSPQPQK
KGLPSPQGTRKSAPSSKATPQASEPVTTQLLGQPPTQEEGSKAQGMR
Sequence length 1907
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathies, CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
28630369, 26846950
Hydrops fetalis Hydrops Fetalis rs28935477, rs1131691986
Hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377
View all (752 more)
11418590, 27106955, 21441111, 26846950
Lung carcinoma Large cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
Unknown
Disease term Disease name Evidence References Source
Hypothyroidism Hypothyroidism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cardiomyopathies Associate 28223422, 28630369, 30046096, 32480058, 37944352
Cardiomyopathy Dilated Associate 28296976, 32480058, 37944352
Cardiomyopathy Hypertrophic Associate 33076350, 33607470, 34263907, 35583889, 37944352, 38002985, 39971408
Congenital Abnormalities Associate 28630369
Death Sudden Cardiac Associate 33302605
Heart Failure Associate 31554410, 34263907
Neoplasm Metastasis Associate 30868060
Ventricular Dysfunction Left Associate 34263907