Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5256
Gene name	Phosphorylase kinase regulatory subunit alpha 2
Gene symbol	PHKA2
Synonyms (NCBI Gene)	GSD9APHKPYKPYKLXLGXLG2
Chromosome	X
Chromosome location	Xp22.13
Summary	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the mus

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852285	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137852286	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137852287	G>A,T	Pathogenic	Stop gained, missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs137852289	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs137852290	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs137852291	T>G	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs137852292	G>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs137852294	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs137852295	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs587776731	C>A	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs587776732	AGA>-	Pathogenic	5 prime UTR variant, inframe deletion, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs587776733	TCG>-	Pathogenic	5 prime UTR variant, inframe deletion, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs797044877	C>A,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs797045008	G>A	Likely-pathogenic	Synonymous variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs886041795	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041985	AG>GGCTCCGTGCCAT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1210626722	C>G,T	Likely-pathogenic	Splice donor variant
rs1555989523	CCT>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant, downstream transcript variant
rs1555995635	->A	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555995689	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556000892	GTTCCCTAATTTTACTCTGCCAAGAAG>-	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1556002344	C>T	Likely-pathogenic	Splice donor variant
rs1556007472	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556014969	A>G	Likely-pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs1556016365	C>G	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs1569297379	GCTCCGTGGCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569297427	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569298646	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569300538	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1569310542	T>C	Likely-pathogenic	Splice acceptor variant
rs1601714299	->A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1601739229	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1601747985	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1601748177	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1601748216	T>C	Pathogenic	Splice acceptor variant
rs1601760689	C>T	Pathogenic	Splice donor variant
rs1601763099	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs1601776276	AGAGAGGTGGCATCC>GGCCAGGA	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs1601776523	AGTG>-	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs1601780766	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs1601781031	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, missense variant

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030297	hsa-miR-26b-5p	Microarray	19088304
MIRT045484	hsa-miR-149-5p	CLASH	23622248
MIRT1231599	hsa-miR-136	CLIP-seq
MIRT1231600	hsa-miR-183	CLIP-seq
MIRT1231601	hsa-miR-185	CLIP-seq
MIRT1231602	hsa-miR-218	CLIP-seq
MIRT1231603	hsa-miR-221	CLIP-seq
MIRT1231604	hsa-miR-222	CLIP-seq
MIRT1231605	hsa-miR-3120-3p	CLIP-seq
MIRT1231606	hsa-miR-3127-5p	CLIP-seq
MIRT1231607	hsa-miR-3143	CLIP-seq
MIRT1231608	hsa-miR-365	CLIP-seq
MIRT1231609	hsa-miR-3659	CLIP-seq
MIRT1231610	hsa-miR-4278	CLIP-seq
MIRT1231611	hsa-miR-4306	CLIP-seq
MIRT1231612	hsa-miR-4313	CLIP-seq
MIRT1231613	hsa-miR-4317	CLIP-seq
MIRT1231614	hsa-miR-4328	CLIP-seq
MIRT1231615	hsa-miR-4461	CLIP-seq
MIRT1231616	hsa-miR-4644	CLIP-seq
MIRT1231617	hsa-miR-4691-5p	CLIP-seq
MIRT1231618	hsa-miR-4693-3p	CLIP-seq
MIRT1231619	hsa-miR-4716-3p	CLIP-seq
MIRT1231620	hsa-miR-4740-3p	CLIP-seq
MIRT1231621	hsa-miR-4786-5p	CLIP-seq
MIRT1231622	hsa-miR-4803	CLIP-seq
MIRT1231623	hsa-miR-499-3p	CLIP-seq
MIRT1231624	hsa-miR-499a-3p	CLIP-seq
MIRT1231625	hsa-miR-542-3p	CLIP-seq
MIRT1231626	hsa-miR-545	CLIP-seq
MIRT1231627	hsa-miR-548v	CLIP-seq
MIRT1231628	hsa-miR-574-5p	CLIP-seq
MIRT1231629	hsa-miR-628-5p	CLIP-seq
MIRT1231630	hsa-miR-759	CLIP-seq
MIRT1922915	hsa-miR-4777-5p	CLIP-seq
MIRT1922916	hsa-miR-511	CLIP-seq
MIRT1922917	hsa-miR-518d-5p	CLIP-seq
MIRT1922918	hsa-miR-519b-5p	CLIP-seq
MIRT1922919	hsa-miR-519c-5p	CLIP-seq
MIRT1922920	hsa-miR-520c-5p	CLIP-seq
MIRT1922921	hsa-miR-526a	CLIP-seq
MIRT2067978	hsa-miR-1291	CLIP-seq
MIRT2067979	hsa-miR-1914	CLIP-seq
MIRT1231603	hsa-miR-221	CLIP-seq
MIRT1231604	hsa-miR-222	CLIP-seq
MIRT1231605	hsa-miR-3120-3p	CLIP-seq
MIRT2067980	hsa-miR-3180-5p	CLIP-seq
MIRT2067981	hsa-miR-324-5p	CLIP-seq
MIRT2067982	hsa-miR-328	CLIP-seq
MIRT2067983	hsa-miR-3611	CLIP-seq
MIRT2067984	hsa-miR-3922-5p	CLIP-seq
MIRT2067985	hsa-miR-4459	CLIP-seq
MIRT1231615	hsa-miR-4461	CLIP-seq
MIRT2067986	hsa-miR-4632	CLIP-seq
MIRT1231618	hsa-miR-4693-3p	CLIP-seq
MIRT2067987	hsa-miR-4709-3p	CLIP-seq
MIRT2067988	hsa-miR-4793-5p	CLIP-seq
MIRT1231623	hsa-miR-499-3p	CLIP-seq
MIRT1231624	hsa-miR-499a-3p	CLIP-seq
MIRT2067989	hsa-miR-520a-5p	CLIP-seq
MIRT2067990	hsa-miR-525-5p	CLIP-seq
MIRT1231625	hsa-miR-542-3p	CLIP-seq
MIRT1231626	hsa-miR-545	CLIP-seq
MIRT1231627	hsa-miR-548v	CLIP-seq
MIRT1231628	hsa-miR-574-5p	CLIP-seq
MIRT2067991	hsa-miR-663b	CLIP-seq
MIRT2295424	hsa-miR-124	CLIP-seq
MIRT2067987	hsa-miR-4709-3p	CLIP-seq
MIRT2295425	hsa-miR-506	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004689	Function	Phosphorylase kinase activity	IEA
GO:0004689	Function	Phosphorylase kinase activity	TAS	7549948
GO:0005515	Function	Protein binding	IPI	23455922, 26496610, 28514442, 32296183, 32707033, 32814053, 33961781, 35271311
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005964	Component	Phosphorylase kinase complex	IBA
GO:0005964	Component	Phosphorylase kinase complex	IEA
GO:0005964	Component	Phosphorylase kinase complex	TAS	7549948
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	7549948
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	7549948
GO:0016020	Component	Membrane	IEA
GO:0036211	Process	Protein modification process	TAS	7549948

MIM	HGNC	e!Ensembl
300798	8926	ENSG00000044446

P46019

Protein name

Phosphorylase b kinase regulatory subunit alpha, liver isoform (Phosphorylase kinase alpha L subunit)

Protein function

Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00723	Glyco_hydro_15	8 → 919	Glycosyl hydrolases family 15	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in liver and other non-muscle tissues.

Sequence

MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVRDNIYSILAVWGLGMA
YRKNADRDEDKAKAYELEQNVVKLMRGLLQCMMRQVAKVEKFKHTQSTKDSLHAKYNTAT
CGTVVGDDQWGHLQVDATSLFLLFLAQMTASGLRIIFTLDEVAFIQNLVFYIEAAYKVAD
YGMWERGDKTNQGIPELNASSVGMAKAALEAIDELDLFGAHGGRKSVIHVLPDEVEHCQS
ILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTKNEIISKLQGRYGCCRFLRDG
YKTPREDPNRLHYDPAELKLFENIECEWPVFWTYFIIDGVFSGDAVQVQEYREALEGILI
RGKNGIRLVPELYAVPPNKVDEEYKNPHTVDRVPMGKVPHLWGQSLYILSSLLAEGFLAA
GEIDPLNRRFSTSVKPDVVVQVTVLAENNHIKDLLRKHGVNVQSIADIHPIQVQPGRILS
HIYAKLGRNKNMNLSGRPYRHIGVLGTSKLYVIRNQIFTFTPQFTDQHHFYLALDNEMIV
EMLRIELAYLCTCWRMTGRPTLTFPISRTMLTNDGSDIHSAVLSTIRKLEDGYFGGARVK
LGNLSEFLTTSFYTYLTFLDPDCDEKLFDNASEGTFSPDSDSDLVGYLEDTCNQESQDEL
DHYINHLLQSTSLRSYLPPLCKNTEDRHVFSAIHSTRDILSVMAKAKGLEVPFVPMTLPT
KVLSAHRKSLNLVDSPQPLLEKVPESDFQWPRDDHGDVDCEKLVEQLKDCSNLQDQADIL
YILYVIKGPSWDTNLSGQHGVTVQNLLGELYGKAGLNQEWGLIRYISGLLRKKVEVLAEA
CTDLLSHQKQLTVGLPPEPREKIISAPLPPEELTKLIYEASGQDISIAVLTQEIVVYLAM
YVRAQPSLFVEMLRLRIGLIIQVMATELARSLNCSGEEASESLMNLSPFDMKNLLHHILS
GKEFGVERSVRPIHSSTSSPTISIHEVGHTGVTKTERSGINRLRSEMKQMTRRFSADEQF
FSVGQAASSSAHSSKSARSSTPSSPTGTSSSDSGGHHIGWGERQGQWLRRRRLDGAINRV
PVGFYQRVWKILQKCHGLSIDGYVLPSSTTREMTPHEIKFAVHVESVLNRVPQPEYRQLL
VEAIMVLTLLSDTEMTSIGGIIHVDQIVQMASQLFLQDQVSIGAMDTLEKDQATGICHFF
YDSAPSGAYGTMTYLTRAVASYLQELLPNSGCQMQ

Sequence length

1235

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Insulin signaling pathway Glucagon signaling pathway		Glycogen breakdown (glycogenolysis)

439

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aland island eye disease	Pathogenic	rs2147807115	RCV001526564
Familial cancer of breast	Likely pathogenic	rs587776731	RCV005927107
Glycogen phosphorylase kinase deficiency	Likely pathogenic; Pathogenic	rs140014925, rs777137574, rs797045008	RCV003230658 RCV002271816 RCV004767127
Glycogen storage disease	Likely pathogenic; Pathogenic	rs137852288	RCV005865177
Glycogen storage disease IXa1	Pathogenic; Likely pathogenic	rs1359540820, rs140014925, rs2047487518, rs2148058081, rs2147806873, rs2147859879, rs768063119, rs2147991282, rs2147954334, rs2147859144, rs2147855177, rs2147972085, rs2147946477, rs2147954328, rs137852290 View all (67 more)	RCV001327258 RCV001312531 RCV001329781 RCV001379104 RCV001383641 RCV001385593 RCV001808067 RCV001808141 RCV002046582 RCV001975200 RCV001972447 RCV001940035 RCV002001660 RCV002249128 RCV002249129 RCV002250226 RCV002250227 RCV002280319 RCV002509887 RCV003064675 RCV000190506 RCV000694745 RCV003026267 RCV003153214 RCV003224913 RCV000011273 RCV000011274 RCV000011275 RCV000011276 RCV000011277 RCV000011278 RCV000548701 RCV000011280 RCV000631189 RCV002247324 RCV001333356 RCV000768040 RCV001781216 RCV003337727 RCV003525572 RCV003525488 RCV003527588 RCV003526524 RCV003526586 RCV000578399 RCV001042605 RCV000625643 RCV000631190 RCV000631192 RCV000631193 RCV000631188 RCV003319398 RCV000701470 RCV000687343 RCV000688946 RCV000686297 RCV000697872 RCV000810740 RCV000823090 RCV000811771 RCV000804399 RCV000808960 RCV000798144 RCV000856683 RCV000856687 RCV000856686 RCV000856685 RCV000856688 RCV000990490 RCV000990494 RCV000990496 RCV000995833 RCV001043235 RCV001048783 RCV001064276 RCV001055694 RCV001040724 RCV001043586 RCV001218511 RCV001209837 RCV001202171 RCV001210137 RCV001206358 RCV001303323
Glycogen storage disease IXa2	Pathogenic; Likely pathogenic	rs137852293, rs137852290, rs137852291, rs137852292, rs137852294, rs587776733, rs2147806786, rs137852295	RCV000011279 RCV000011281 RCV000011282 RCV000011283 RCV000011284 RCV000011285 RCV000011286 RCV000011287
Glycogen storage disease IXd	Likely pathogenic; Pathogenic	rs797044877	RCV003328098
Increased hepatic glycogen content	Likely pathogenic; Pathogenic	rs1601760689	RCV003127491
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs137852289, rs2518543955	RCV005887428 RCV005931507
PHKA2-related disorder	Likely pathogenic; Pathogenic	rs140014925, rs1569300538, rs1601748177	RCV004754725 RCV004731015 RCV003898030
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147954328, rs587776731, rs1555988479, rs1601747985	RCV005930052 RCV005887427 RCV005900120 RCV005906947

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of neuronal migration	Benign	rs863223371	RCV000201393
Acute myeloid leukemia	Likely benign; Benign	rs199798526, rs140662042, rs376658808	RCV005922477 RCV005891231 RCV005898050
Cervical cancer	Benign	rs140662042	RCV005891233
Colon adenocarcinoma	Benign	rs140662042	RCV005891230
Gastric cancer	Benign; Uncertain significance; Likely benign	rs150571290, rs145406549, rs140662042, rs376658808	RCV005922960 RCV005924031 RCV005891235 RCV005898051
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	rs376658808	RCV005625601
Lung cancer	Benign	rs140662042	RCV005891239
Malignant tumor of esophagus	Benign	rs140662042	RCV005891232
Melanoma	Benign; Likely benign	rs140662042, rs780902293	RCV005891238 RCV005898900
Ovarian serous cystadenocarcinoma	Benign	rs140662042	RCV005891236
Sarcoma	Benign	rs140662042	RCV005891234
See cases	Uncertain significance	rs766866500	RCV002252742
Thymoma	Benign; Likely benign	rs140662042, rs376658808	RCV005891237 RCV005898052
Uterine corpus endometrial carcinoma	Benign	rs150571290	RCV005922961

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Hemolytic Congenital Nonspherocytic	Associate	16540430
Carcinoma Hepatocellular	Associate	33540684
Coronary Artery Disease	Associate	17052347
Diabetes Mellitus Type 2	Associate	28934129
Dimauro disease	Associate	32772503
Endometrial Neoplasms	Associate	23028188
Gerstmann Straussler Scheinker Disease	Associate	19856867, 27103379, 34117828
Glycogen Storage Disease	Associate	22899091, 30659246, 38192425
Glycogen Storage Disease Type II	Associate	27103379, 38192425
Glycogen Storage Disease Type Ix	Associate	12862311, 34117828
Glycogen Storage Disease Type VI	Associate	33317799
Hepatomegaly	Associate	27103379, 34117828
Hyperlipoproteinemia Type II	Associate	12862311
Hypoglycemia	Associate	34117828
Liver Glycogenosis X Linked Type II	Associate	10330341, 18950708, 19856867
Neoplasms	Inhibit	23028188

PHKA2 (phosphorylase kinase regulatory subunit alpha 2)