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	5297
Gene name	Phosphatidylinositol 4-kinase alpha
Gene symbol	PI4KA
Synonyms (NCBI Gene)	GIDID2PI4K-ALPHAPIK4CAPMGYCHASPG84pi4K230
Chromosome	22
Chromosome location	22q11.21
Summary	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecu

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs747119727	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs777006911	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555884508	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained

117

Show/Hide all (117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048844	hsa-miR-93-5p	CLASH	23622248
MIRT041683	hsa-miR-484	CLASH	23622248
MIRT439980	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439980	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT2593472	hsa-miR-217	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT2593473	hsa-miR-4279	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT2593474	hsa-miR-4467	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT2593475	hsa-miR-4650-5p	CLIP-seq
MIRT2593476	hsa-miR-4691-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT2593477	hsa-miR-4757-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq
MIRT2295671	hsa-miR-1228	CLIP-seq
MIRT2295672	hsa-miR-153	CLIP-seq
MIRT1232804	hsa-miR-1913	CLIP-seq
MIRT2439473	hsa-miR-1914	CLIP-seq
MIRT1232817	hsa-miR-219-5p	CLIP-seq
MIRT1232818	hsa-miR-29a	CLIP-seq
MIRT1232819	hsa-miR-29b	CLIP-seq
MIRT1232820	hsa-miR-29c	CLIP-seq
MIRT1232821	hsa-miR-3065-3p	CLIP-seq
MIRT1232805	hsa-miR-3189-5p	CLIP-seq
MIRT1232806	hsa-miR-3197	CLIP-seq
MIRT1232807	hsa-miR-324-3p	CLIP-seq
MIRT2593473	hsa-miR-4279	CLIP-seq
MIRT1232822	hsa-miR-4445	CLIP-seq
MIRT1232808	hsa-miR-4459	CLIP-seq
MIRT1232823	hsa-miR-455-3p	CLIP-seq
MIRT1232809	hsa-miR-4640-5p	CLIP-seq
MIRT2593475	hsa-miR-4650-5p	CLIP-seq
MIRT2593476	hsa-miR-4691-5p	CLIP-seq
MIRT1232810	hsa-miR-4695-5p	CLIP-seq
MIRT1232811	hsa-miR-4726-5p	CLIP-seq
MIRT2593477	hsa-miR-4757-5p	CLIP-seq
MIRT1232812	hsa-miR-4758-3p	CLIP-seq
MIRT1232824	hsa-miR-4782-3p	CLIP-seq
MIRT1232825	hsa-miR-508-3p	CLIP-seq
MIRT1232813	hsa-miR-604	CLIP-seq
MIRT1232826	hsa-miR-639	CLIP-seq
MIRT1232814	hsa-miR-662	CLIP-seq
MIRT1232815	hsa-miR-665	CLIP-seq
MIRT1232827	hsa-miR-767-5p	CLIP-seq
MIRT1232816	hsa-miR-9	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	IBA
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	IEA
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	ISS
GO:0004430	Function	1-phosphatidylinositol 4-kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	14676841, 15607035, 21238945, 21297162, 23675303, 23935497, 25608530, 26571211
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23229899
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23229899
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS	7961848
GO:0007165	Process	Signal transduction	NAS	7961848
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	ISS
GO:0044788	Process	Host-mediated perturbation of viral process	IMP	19376974
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IBA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	ISS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0140754	Process	Reorganization of cellular membranes to establish viral sites of replication	IMP	19376974

MIM	HGNC	e!Ensembl
600286	8983	ENSG00000241973

P42356

Protein name

Phosphatidylinositol 4-kinase alpha (PI4-kinase alpha) (PI4K-alpha) (PtdIns-4-kinase alpha) (EC 2.7.1.67) (Phosphatidylinositol 4-Kinase III alpha)

Protein function

Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.

PDB

6BQ1 , 9B9G , 9BAX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00613	PI3Ka	1562 → 1728	Phosphoinositide 3-kinase family, accessory domain (PIK domain)	Family
PF00454	PI3_PI4_kinase	1844 → 1914	Phosphatidylinositol 3- and 4-kinase	Family
PF00454	PI3_PI4_kinase	1907 → 2051	Phosphatidylinositol 3- and 4-kinase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed ubiquitously. Highest levels in placenta and brain. Little or no expression in lung, liver, pancreas, testis or leukocytes. {ECO:0000269|PubMed:10101268, ECO:0000269|PubMed:7961848}.

Sequence

MAAAPARGGGGGGGGGGGCSGSGSSASRGFYFNTVLSLARSLAVQRPASLEKVQKLLCMC
PVDFHGIFQLDERRRDAVIALGIFLIESDLQHKDCVVPYLLRLLKGLPKVYWVEESTARK
GRGALPVAESFSFCLVTLLSDVAYRDPSLRDEILEVLLQVLHVLLGMCQALEIQDKEYLC
KYAIPCLIGISRAFGRYSNMEESLLSKLFPKIPPHSLRVLEELEGVRRRSFNDFRSILPS
NLLTVCQEGTLKRKTSSVSSISQVSPERGMPPPSSPGGSAFHYFEASCLPDGTALEPEYY
FSTISSSFSVSPLFNGVTYKEFNIPLEMLRELLNLVKKIVEEAVLKSLDAIVASVMEANP
SADLYYTSFSDPLYLTMFKMLRDTLYYMKDLPTSFVKEIHDFVLEQFNTSQGELQKILHD
ADRIHNELSPLKLRCQANAACVDLMVWAVKDEQGAENLCIKLSEKLQSKTSSKVIIAHLP
LLICCLQGLGRLCERFPVVVHSVTPSLRDFLVIPSPVLVKLYKYHSQYHTVAGNDIKISV
TNEHSESTLNVMSGKKSQPSMYEQLRDIAIDNICRCLKAGLTVDPVIVEAFLASLSNRLY
ISQESDKDAHLIPDHTIRALGHIAVALRDTPKVMEPILQILQQKFCQPPSPLDVLIIDQL
GCLVITGNQYIYQEVWNLFQQISVKASSVVYSATKDYKDHGYRHCSLAVINALANIAANI
QDEHLVDELLMNLLELFVQLGLEGKRASERASEKGPALKASSSAGNLGVLIPVIAVLTRR
LPPIKEAKPRLQKLFRDFWLYSVLMGFAVEGSGLWPEEWYEGVCEIATKSPLLTFPSKEP
LRSVLQYNSAMKNDTVTPAELSELRSTIINLLDPPPEVSALINKLDFAMSTYLLSVYRLE
YMRVLRSTDPDRFQVMFCYFEDKAIQKDKSGMMQCVIAVADKVFDAFLNMMADKAKTKEN
EEELERHAQFLLVNFNHIHKRIRRVADKYLSGLVDKFPHLLWSGTVLKTMLDILQTLSLS
LSADIHKDQPYYDIPDAPYRITVPDTYEARESIVKDFAARCGMILQEAMKWAPTVTKSHL
QEYLNKHQNWVSGLSQHTGLAMATESILHFAGYNKQNTTLGATQLSERPACVKKDYSNFM
ASLNLRNRYAGEVYGMIRFSGTTGQMSDLNKMMVQDLHSALDRSHPQHYTQAMFKLTAML
ISSKDCDPQLLHHLCWGPLRMFNEHGMETALACWEWLLAGKDGVEVPFMREMAGAWHMTV
EQKFGLFSAEIKEADPLAASEASQPKPCPPEVTPHYIWIDFLVQRFEIAKYCSSDQVEIF
SSLLQRSMSLNIGGAKGSMNRHVAAIGPRFKLLTLGLSLLHADVVPNATIRNVLREKIYS
TAFDYFSCPPKFPTQGEKRLREDISIMIKFWTAMFSDKKYLTASQLVPPDNQDTRSNLDI
TVGSRQQATQGWINTYPLSSGMSTISKKSGMSKKTNRGSQLHKYYMKRRTLLLSLLATEI
ERLITWYNPLSAPELELDQAGENSVANWRSKYISLSEKQWKDNVNLAWSISPYLAVQLPA
RFKNTEAIGNEVTRLVRLDPGAVSDVPEAIKFLVTWHTIDADAPELSHVLCWAPTDPPTG
LSYFSSMYPPHPLTAQYGVKVLRSFPPDAILFYIPQIVQALRYDKMGYVREYILWAASKS
QLLAHQFIWNMKTNIYLDEEGHQKDPDIGDLLDQLVEEITGSLSGPAKDFYQREFDFFNK
ITNVSAIIKPYPKGDERKKACLSALSEVKVQPGCYLPSNPEAIVLDIDYKSGTPMQSAAK
APYLAKFKVKRCGVSELEKEGLRCRSDSEDECSTQEADGQKISWQAAIFKVGDDCRQDML
ALQIIDLFKNIFQLVGLDLFVFPYRVVATAPGCGVIECIPDCTSRDQLGRQTDFGMYDYF
TRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKDRHNGNIMLDKKGHIIHIDFGFMF
ESSPGGNLGWEPDIKLTDEMVMIMGGKMEATPFKWFMEMCVRGYLAVRPYMDAVVSLVTL
MLDTGLPCFRGQTIKLLKHRFSPNMTEREAANFIMKVIQSCFLSNRSRTYDMIQYYQNDI
PY

Sequence length

2102

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the ER membrane Synthesis of PIPs at the Golgi membrane

126

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastrointestinal defects and immunodeficiency syndrome 2	Pathogenic; Likely pathogenic	rs776650691, rs201395198	RCV001822068 RCV005361986
Phenylketonuria	Likely pathogenic	rs201395198	RCV003164309
PI4KA-related disorder	Likely pathogenic; Pathogenic	rs201395198, rs2518145912, rs762036318, rs779656809, rs1202099178, rs2518048241	RCV004533974 RCV002291384 RCV004529148 RCV004529626 RCV004534375 RCV004528755
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	Likely pathogenic; Pathogenic	rs767451281, rs144933467, rs747391554, rs1351749039, rs1929601378, rs139598272, rs2147171210, rs1419816068, rs1490645147, rs2147287553, rs2147164417, rs201395198, rs2518027388, rs777006911, rs747119727, rs1932452329, rs775166339 View all (2 more)	RCV004598385 RCV001336863 RCV001785408 RCV001785409 RCV001785410 RCV001785411 RCV001822069 RCV001822070 RCV001822071 RCV001822072 RCV002285183 RCV005361986 RCV002306450 RCV000190465 RCV000190466 RCV001089953 RCV002250230
Spastic paraplegia 84, autosomal recessive	Pathogenic; Likely pathogenic	rs139598272, rs1925715512, rs2147194890, rs201395198	RCV001785412 RCV001785413 RCV001785415 RCV002221703

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1298440445	-
Acute myeloid leukemia	Benign	rs73161000	RCV005916962
Cholangiocarcinoma	Benign	rs73161000, rs165691	RCV005916967 RCV005923409
Colon adenocarcinoma	Uncertain significance	rs764922100	RCV005931743
Long QT syndrome	Uncertain significance	rs764985938, rs796052191	RCV000190239 RCV000190205
Malignant lymphoma, large B-cell, diffuse	Benign	rs28718601	RCV005923057
Malignant tumor of esophagus	Benign	rs28718601	RCV005923056
Ovarian serous cystadenocarcinoma	Benign	rs73161000	RCV005916964
Sarcoma	Benign	rs28718601	RCV005923058
Thymoma	Benign	rs73161000, rs28718601	RCV005916966 RCV005923059
Uterine carcinosarcoma	Benign	rs73161000	RCV005916965
Uterine corpus endometrial carcinoma	Benign	rs28718601	RCV005923060
Uveal melanoma	Benign	rs73161000	RCV005916963

Show/Hide Text Mining Associations (39)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	24077433
Arthrogryposis	Associate	25855803
Autism Spectrum Disorder	Associate	31500805
Bone Neoplasms	Associate	37996444
Brain Diseases	Associate	34415322
Carcinoma Hepatocellular	Associate	24393405
Central Nervous System Vascular Malformations	Associate	35880319
Cerebellar Hypoplasia	Associate	25855803
Chromosome 22q11.2 Microduplication Syndrome	Associate	30614210
Deficiency Diseases	Associate	36341355
Demyelinating Diseases	Associate	34415322
Developmental Disabilities	Associate	35880319
Diarrhea	Associate	36341355
DiGeorge Syndrome	Associate	18646052, 29925309, 36869225
Genetic Diseases Inborn	Associate	36341355
Heredodegenerative Disorders Nervous System	Associate	34415310
Hypersensitivity Delayed	Associate	34415322
Immune System Diseases	Associate	34415322
Inflammatory Bowel Diseases	Associate	34415310, 35880319
Intellectual Disability	Associate	24253858, 34415322
Intestinal Atresia Multiple	Associate	34415310, 36341355
Intestinal Diseases	Associate	34415310, 36341355
Intestinal Neoplasms	Associate	36341355
Leukodystrophy Metachromatic	Associate	35880319
Medulloblastoma	Associate	21652733
Metabolic Diseases	Associate	34415322
Neoplasm Metastasis	Associate	35982909
Neoplasms	Associate	24393405
Neurodegenerative Diseases	Associate	24077433
Pancreatic Neoplasms	Associate	35982909
Paraplegia	Associate	34415322
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	34415310, 34415322
Polymicrogyria	Associate	25855803
Primary Immunodeficiency Diseases	Associate	35880319
Prostatic Neoplasms	Associate	37996444
Schizophrenia	Associate	18646052, 31500805
Sepsis	Associate	36341355
Urogenital Neoplasms	Associate	34415322
X Linked Combined Immunodeficiency Diseases	Associate	34415310

PI4KA (phosphatidylinositol 4-kinase alpha)