PIK3R4 - phosphoinositide-3-kinase regulatory subunit 4 Gene

Homo sapiens

Also known as p150; VPS15

Gene ID: 30849 | Gene type: protein coding

About PIK3R4

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,678,934-130,746,829 (from NCBI)

This gene has 8 transcripts (splice variants) and 216 orthologues. Ubiquitous expression in thyroid (RPKM 9.2), testis (RPKM 8.7) and 25 other tissues.

Summary

Predicted to enable protein serine/threonine kinase activity. Involved in positive regulation of phosphatidylinositol 3-kinase activity; receptor catabolic process; and regulation of cytokinesis. Located in late endosome and microtubule Cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]

PIK3R4 Products(1)

mRNA	Protein	Name
NM_014602.3	NP_055417.1	phosphoinositide 3-kinase regulatory subunit 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14617358	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in autophagosome maturation	IDA IDA: Inferred from direct assay	10625637	GOA
involved in early endosome to late endosome transport	IDA IDA: Inferred from direct assay	14617358	GOA
involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	21062745	GOA
involved in phosphatidylinositol-3-phosphate biosynthetic process	IDA IDA: Inferred from direct assay	8999962	GOA
involved in receptor catabolic process	IMP IMP: Inferred from mutant phenotype	20643123	GOA
involved in regulation of autophagy	IDA IDA: Inferred from direct assay	16799551	GOA
involved in regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	20643123	GOA
involved in regulation of macroautophagy	IDA IDA: Inferred from direct assay	10625637	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in late endosome	IDA IDA: Inferred from direct assay	14617358	GOA
part of phosphatidylinositol 3-kinase complex, class III	IPI IPI: Inferred from physical interaction	25490155	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIK3R4 Protein Structure

Pkinase

WD40

0
300
600
900
1200
1358 a.a.

Protein Preferred Names

Protein Names

phosphoinositide 3-kinase regulatory subunit 4

PI3-kinase p150 subunit

PIK3R4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PIK3R4	Q99570	NRBF2	Homo sapiens	Q96F24	Anti Tag CoIP	24785657
Intra	PIK3R4	Q99570	NRBF2	Homo sapiens	Q96F24	Y2H Array	32296183
Intra	PIK3R4	Q99570	NRBF2	Homo sapiens	Q96F24	Pull Down	32707033
Intra	PIK3R4	Q99570	NRBF2	Homo sapiens	Q96F24	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PIK3R4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83078	PI 3 Kinase p150 Antibody (YA2823)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases

Alias

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Retinitis Pigmentosa 62

RP62	Retinitis Pigmentosa, Type 62

Myopathy, X-Linked, With Excessive Autophagy

X-Linked Myopathy With Excessive Autophagy	Xmea
MEAX	Vacuolar Myopathy

Vici Syndrome

Absent Corpus Callosum Cataract Immunodeficiency	VICIS
Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum	Dionisi Vici Sabetta Gambarara Syndrome
Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum	Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome
Dionisi-Vici-Sabetta-Gambarara Syndrome	Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Danon Disease

Pseudoglycogenosis Ii	Antopol Disease
Glycogen Storage Disease Iib	Glycogen Storage Disease Type 2b
Glycogen Storage Disease Type Iib	Gsd2b
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency	Vacuolar Cardiomyopathy And Myopathy X-Linked
Vacuolar Cardiomyopathy And Myopathy, X-Linked	Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
Gsd2b, Formerly	Gsd Iib, Formerly
Glycogen Storage Cardiomyopathy	Glycogen Storage Disease Limited To The Heart
Pseudoglycogenosis 2	X-Linked Vacuolar Cardiomyopathy And Myopathy
Lysosomal Glycogen Storage Disease With Normal Acid Maltase	Glycogen Storage Disease Due To Lamp-2 Deficiency
Gsd Due To Lamp-2 Deficiency	Glycogenosis Due To Lamp-2 Deficiency
Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity	DAND
Gsd-Iib

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10539	PIK3R4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PIK3R4	RGD	RGD:1311809
Mus musculus	PIK3R4	MGD	MGI:1922919
Bos taurus	PIK3R4	VGNC	VGNC:32895
Felis catus	PIK3R4	VGNC	VGNC:68859
Canis familiaris	PIK3R4	VGNC	VGNC:44561
Macaca mulatta	PIK3R4	VGNC	VGNC:84060

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