PIK3R4 (phosphoinositide-3-kinase regulatory subunit 4)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 30849
• Gene name: Phosphoinositide-3-kinase regulatory subunit 4
• Gene symbol: PIK3R4
• Synonyms (NCBI Gene): VPS15, p150
• Chromosome: 3
• Chromosome location: 3q22.1

miRNA Show/Hide all (30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004145	hsa-miR-192-5p	Microarray	16822819
MIRT043838	hsa-miR-330-3p	CLASH	23622248
MIRT041128	hsa-miR-503-5p	CLASH	23622248
MIRT036495	hsa-miR-1226-3p	CLASH	23622248
MIRT726937	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT726936	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT1234903	hsa-miR-1229	CLIP-seq
MIRT1234904	hsa-miR-1279	CLIP-seq
MIRT2296286	hsa-miR-1262	CLIP-seq
MIRT2296287	hsa-miR-1297	CLIP-seq
MIRT2296288	hsa-miR-26a	CLIP-seq
MIRT2296289	hsa-miR-26b	CLIP-seq
MIRT2296290	hsa-miR-4455	CLIP-seq
MIRT2296291	hsa-miR-4465	CLIP-seq
MIRT2296292	hsa-miR-4517	CLIP-seq
MIRT2296293	hsa-miR-4701-3p	CLIP-seq
MIRT2296294	hsa-miR-4704-3p	CLIP-seq
MIRT2296295	hsa-miR-4729	CLIP-seq
MIRT2296296	hsa-miR-4775	CLIP-seq
MIRT2296297	hsa-miR-4802-5p	CLIP-seq
MIRT2296298	hsa-miR-494	CLIP-seq
MIRT2296299	hsa-miR-590-3p	CLIP-seq
MIRT2296300	hsa-miR-609	CLIP-seq
MIRT2296301	hsa-miR-616	CLIP-seq
MIRT2687914	hsa-miR-1251	CLIP-seq
MIRT2687915	hsa-miR-2117	CLIP-seq
MIRT2687916	hsa-miR-3646	CLIP-seq
MIRT2687917	hsa-miR-4273	CLIP-seq
MIRT2687918	hsa-miR-4503	CLIP-seq
MIRT2687919	hsa-miR-4684-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000425	Process	Pexophagy	IBA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	NAS	8999962
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	14617358, 19270696, 23878393, 24785657, 24849286, 28514442, 32296183, 32707033, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IBA
GO:0005770	Component	Late endosome	IDA	14617358
GO:0005770	Component	Late endosome	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0006468	Process	Protein phosphorylation	NAS	8999962
GO:0006622	Process	Protein targeting to lysosome	NAS	16467569
GO:0006623	Process	Protein targeting to vacuole	IBA
GO:0010506	Process	Regulation of autophagy	IDA	16799551
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	IEA
GO:0016241	Process	Regulation of macroautophagy	IDA	10625637
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032465	Process	Regulation of cytokinesis	IMP	20643123
GO:0032801	Process	Receptor catabolic process	IMP	20643123
GO:0034271	Component	Phosphatidylinositol 3-kinase complex, class III, type I	IBA
GO:0034272	Component	Phosphatidylinositol 3-kinase complex, class III, type II	IBA
GO:0035032	Component	Phosphatidylinositol 3-kinase complex, class III	IEA
GO:0035032	Component	Phosphatidylinositol 3-kinase complex, class III	IPI	25490155
GO:0035032	Component	Phosphatidylinositol 3-kinase complex, class III	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IDA	8999962
GO:0042149	Process	Cellular response to glucose starvation	IEA
GO:0042149	Process	Cellular response to glucose starvation	ISS
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	21062745
GO:0045022	Process	Early endosome to late endosome transport	IDA	14617358
GO:0045171	Component	Intercellular bridge	IDA
GO:0045324	Process	Late endosome to vacuole transport	IBA
GO:0045324	Process	Late endosome to vacuole transport	IEA
GO:0071561	Component	Nucleus-vacuole junction	IBA
GO:0097352	Process	Autophagosome maturation	IDA	10625637
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 602610
• HGNC: 8982
• e!Ensembl: ENSG00000196455

Protein

• UniProt ID: Q99570
• Protein name: Phosphoinositide 3-kinase regulatory subunit 4 (PI3-kinase regulatory subunit 4) (EC 2.7.11.1) (PI3-kinase p150 subunit) (Phosphoinositide 3-kinase adaptor protein)
• Protein function: Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagoso
• PDB: 7BL1 , 8SOR , 9C82 , 9MHF , 9MHG , 9MHH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	983 → 1021	WD domain, G-beta repeat	Repeat
  PF00400	WD40	1321 → 1358	WD domain, G-beta repeat	Repeat
  PF00069	Pkinase	26 → 312	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:8999962}.
• Sequence:

  MGNQLAGIAPSQILSVESYFSDIHDFEYDKSLGSTRFFKVARAKHREGLVVVKVFAIQDP
  TLPLTSYKQELEELKIRLNSAQNCLPFQKASEKASEKAAMLFRQYVRDNLYDRISTRPFL
  NNIEKRWIAFQILTAVDQAHKSGVRHGDIKTENVMVTSWNWVLLTDFASFKPTYLPEDNP
  ADFNYFFDTSRRRTCYIAPERFVDGGMFATELEYMRDPSTPLVDLNSNQRTRGELKRAMD
  IFSAGCVIAELFTEGVPLFDLSQLLAYRNGHFFPEQVLNKIEDHSIRELVTQMIHREPDK
  RLEAEDYLKQQRGNAFPEIFYTFLQPYMAQFAKETFLSADERILVIRKDLGNIIHNLCGH
  DLPEKAEGEPKENGLVILVSVITSCLQTLKYCDSKLAALELILHLAPRLSVEILLDRITP
  YLLHFSNDSVPRVRAEALRTLTKVLALVKEVPRNDINIYPEYILPGIAHLAQDDATIVRL
  AYAENIALLAETALRFLELVQLKNLNMENDPNNEEIDEVTHPNGNYDTELQALHEMVQQK
  VVTLLSDPENIVKQTLMENGITRLCVFFGRQKANDVLLSHMITFLNDKNDWHLRGAFFDS
  IVGVAAYVGWQSSSILKPLLQQGLSDAEEFVIVKALYALTCMCQLGLLQKPHVYEFASDI
  APFLCHPNLWIRYGAVGFITVVARQISTADVYCKLMPYLDPYITQPIIQIERKLVLLSVL
  KEPVSRSIFDYALRSKDITSLFRHLHMRQKKRNGSLPDCPPPEDPAIAQLLKKLLSQGMT
  EEEEDKLLALKDFMMKSNKAKANIVDQSHLHDSSQKGVIDLAALGITGRQVDLVKTKQEP
  DDKRARKHVKQDSNVNEEWKSMFGSLDPPNMPQALPKGSDQEVIQTGKPPRSESSAGICV
  PLSTSSQVPEVTTVQNKKPVIPVLSSTILPSTYQIRITTCKTELQQLIQQKREQCNAERI
  AKQMMENAEWESKPPPPGWRPKGLLVAHLHEHKSAVNRIRVSDEHSLFATCSNDGTVKIW
  NSQKMEGKTTTTRSILTYSRIGGRVKTLTFCQGSHYLAIASDNGAVQLLGIEASKLPKSP
  KIHPLQSRILDQKEDGCVVDMHHFNSGAQSVLAYATVNGSLVGWDLRSSSNAWTLKHDLK
  SGLITSFAVDIHQCWLCIGTSSGTMACWDMRFQLPISSHCHPSRARIRRLSMHPLYQSWV
  IAAVQGNNEVSMWDMETGDRRFTLWASSAPPLSELQPSPHSVHGIYCSPADGNPILLTAG
  SDMKIRFWDLAYPERSYVVAGSTSSPSVSYYRKIIEGTEVVQEIQNKQKVGPSDDTPRRG
  PESLPVGHHDIITDVATFQTTQGFIVTASRDGIVKVWK

• Sequence length: 1358

Pathways

KEGG Pathway	Reactome Pathway
Autophagy - other	PI3K Cascade
Autophagy - animal	Macroautophagy
Apelin signaling pathway	Synthesis of PIPs at the Golgi membrane
Alzheimer disease	Synthesis of PIPs at the early endosome membrane
Amyotrophic lateral sclerosis	Synthesis of PIPs at the late endosome membrane
Huntington disease	Toll Like Receptor 9 (TLR9) Cascade
Spinocerebellar ataxia	RHO GTPases Activate NADPH Oxidases
Pathways of neurodegeneration - multiple diseases
Shigellosis

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	38839884	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (40)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16240349, 17824900		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	23275297		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18618715	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23273547		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	29311744		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	BEFREE	29311744		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	15382063		★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	8896560		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	27882921		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	23630012		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26387534		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26387534		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29311744		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	31356904		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16240349, 17824900		★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	28102838		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28102838		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IIb	Glycogen Storage Disease	BEFREE	28102838		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	39625996	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23273547		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15382063		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24845563		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22912864	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26387534		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17824900		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	23630012		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15382063		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23273547		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21563232	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23143281		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11 autosomal recessive	Spastic paraplegia	Pubtator	30081747	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 15 autosomal recessive	Spastic paraplegia	Pubtator	30081747	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	17543081		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15382063		★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	23621630		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25803323	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18618715	Associate	★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar Myopathy	BEFREE	23630012		★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	BEFREE	18413245		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PIK3C3 12 shared pathwaysAutophagy - other, Autophagy - animal, Apelin signaling pathway, Spinocerebellar ataxia, Shigellosis, Macroautophagy, RHO GTPases Activate NADPH Oxidases, PI3K Cascade, Synthesis of PIPs at the Golgi membrane, Synthesis of PIPs at the early endosome membrane, Synthesis of PIPs at the late endosome membrane, Toll Like Receptor 9 (TLR9) Cascade Related via 12 shared pathways including Autophagy - other, Autophagy - animal. WIPI2 5 shared pathwaysAutophagy - other, Autophagy - animal, Spinocerebellar ataxia, Shigellosis, Macroautophagy Related via 5 shared pathways including Autophagy - other, Autophagy - animal. WIPI1 5 shared pathwaysAutophagy - other, Autophagy - animal, Spinocerebellar ataxia, Shigellosis, Macroautophagy Related via 5 shared pathways including Autophagy - other, Autophagy - animal. BECN1 6 shared pathwaysAutophagy - other, Autophagy - animal, Apelin signaling pathway, Spinocerebellar ataxia, Shigellosis, Macroautophagy Related via 6 shared pathways including Autophagy - other, Autophagy - animal. BECN2 5 shared pathwaysAutophagy - other, Autophagy - animal, Apelin signaling pathway, Spinocerebellar ataxia, Shigellosis Related via 5 shared pathways including Autophagy - other, Autophagy - animal.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PIK3C3	0	[]	12	["Autophagy - other","Autophagy - animal","Apelin signaling pathway","Spinocerebellar ataxia","Shigellosis","Macroautophagy","RHO GTPases Activate NADPH Oxidases","PI3K Cascade","Synthesis of PIPs at the Golgi membrane","Synthesis of PIPs at the early endosome membrane","Synthesis of PIPs at the late endosome membrane","Toll Like Receptor 9 (TLR9) Cascade"]	0	[]
WIPI2	0	[]	5	["Autophagy - other","Autophagy - animal","Spinocerebellar ataxia","Shigellosis","Macroautophagy"]	0	[]
WIPI1	0	[]	5	["Autophagy - other","Autophagy - animal","Spinocerebellar ataxia","Shigellosis","Macroautophagy"]	0	[]
BECN1	0	[]	6	["Autophagy - other","Autophagy - animal","Apelin signaling pathway","Spinocerebellar ataxia","Shigellosis","Macroautophagy"]	0	[]
BECN2	0	[]	5	["Autophagy - other","Autophagy - animal","Apelin signaling pathway","Spinocerebellar ataxia","Shigellosis"]	0	[]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 3 of 5 related genesPIK3C3, WIPI1, BECN1 Major depressive disorder Linked via 2 of 5 related genesPIK3C3, WIPI1 Schizophrenia Linked via 2 of 5 related genesPIK3C3, BECN1 Asthma Linked via 1 of 5 related genesPIK3C3 Bipolar disorder Linked via 1 of 5 related genesPIK3C3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	3	["PIK3C3","WIPI1","BECN1"]
Major depressive disorder	2	["PIK3C3","WIPI1"]
Schizophrenia	2	["PIK3C3","BECN1"]
Asthma	1	["PIK3C3"]
Bipolar disorder	1	["PIK3C3"]