EPG5 - ectopic P-granules 5 autophagy tethering factor Gene

Homo sapiens

Also known as HEEW1; VICIS; KIAA1632

Gene ID: 57724 | Gene type: protein coding

About EPG5

Cytogenetic location: 18q12.3-q21.1 Genomic coordinates (GRCh38): 18:45,800,581-45,967,329 (from NCBI)

This gene has 19 transcripts (splice variants), 205 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.1), thyroid (RPKM 4.1) and 25 other tissues.

Summary

This gene encodes a large coiled coil domain-containing protein that functions in Autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]

EPG5 Products(3)

mRNA	Protein	Name
NM_001410858.1	NP_001397787.1	ectopic P granules protein 5 homolog isoform 3
NM_001410859.1	NP_001397788.1	ectopic P granules protein 5 homolog isoform 2
NM_020964.3	NP_066015.2	ectopic P granules protein 5 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29130391	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to dsDNA	IMP IMP: Inferred from mutant phenotype	29130391	GOA
involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	29130391	GOA
involved in nucleotide transport	IMP IMP: Inferred from mutant phenotype	29130391	GOA
acts upstream of positive effect toll-like receptor 9 signaling pathway	IMP IMP: Inferred from mutant phenotype	29130391	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in lysosome	IDA IDA: Inferred from direct assay	29130391	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	29130391	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

Protein Preferred Names

Protein Names

ectopic P granules protein 5 homolog

ectopic P-granules autophagy protein 5 homolog

Related Diseases

Diseases

Alias

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

Syndromic Rod-Cone Dystrophy

Syndromic Retinitis Pigmentosa

Spinocerebellar Ataxia, Autosomal Recessive 20

Autosomal Recessive Spinocerebellar Ataxia 20	SCAR20
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Autosomal Recessive Spinocerebellar Ataxia Type 20
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome	Spinocerebellar Ataxia, Autosomal Recessive, 20
Ataxia, Spinocerebellar, Autosomal Recessive, Type 20

Neurodegeneration With Brain Iron Accumulation 5

NBIA5	Beta-Propeller Protein-Associated Neurodegeneration
Bpan	Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Senda	Neurodegeneration With Brain Iron Accumulation Type 5
Neurodegeneration With Brain Iron Accululation 5	Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
Neurodegeneration, With Brain Iron Accululation, Type 5

Myopathy, X-Linked, With Excessive Autophagy

X-Linked Myopathy With Excessive Autophagy	Xmea
MEAX	Vacuolar Myopathy

Hypogonadotropic Hypogonadism 5 With Or Without Anosmia

HH5	Kallmann Syndrome 5
Kal5	Hypogonadotropic Hypogonadism 5 Without Anosmia
Hypogonadism, Hypogonadotropic, Type 5 With/Without Anosmia

Combined Oxidative Phosphorylation Deficiency 11

COXPD11	Combined Oxidative Phosphorylation Defect Type 11
Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect	Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect
Combined Oxidative Phosphorylation Deficiency, Type 11

Hereditary Spastic Paraplegia 49

Autosomal Recessive Spastic Paraplegia Type 49	Autosomal Recessive Spastic Paraplegia 49
Spg49	Paraplegia, Spastic, Type 49, Autosomal Recessive

Amyloidosis, Primary Localized Cutaneous, 3

Amyloidosis Cutis Dyschromica	PLCA3
Acd	Primary Localized Cutaneous Amyloidosis 3
Amyloidosis Cutis Dyschromia

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

Polymicrogyria

Pmg

Treacher Collins Syndrome 1

Treacher Collins Syndrome	Mandibulofacial Dysostosis
Treacher Collins-Franceschetti Syndrome	Tcof
Tcs	Mfd1
Franceschetti-Klein Syndrome	TCS1
Franceschetti Syndrome	Franceschetti-Zwahlen-Klein Syndrome
Zygoauromandibular Dysplasia	Treacher-Collins Syndrome
Mandibulofacial Dysostosis Without Limb Anomalies	Bilateral And Symmetric Oto-Mandibular Dysplasia

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia	Yunis Varon Syndrome
YVS	Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia	Yunis-Varón Syndrome

Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy	Arnd
Encephalopathy, Static	Alcohol Related Neurodevelopmental Disorder

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

Lens Disease

Lens Diseases

Neurodegeneration With Brain Iron Accumulation

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

Myopathy

Muscular Diseases

Myopathies

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS04422	EPG5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EPG5	VGNC	VGNC:28531
Felis catus	EPG5	VGNC	VGNC:61900
Macaca mulatta	EPG5	VGNC	VGNC:104221
Rattus norvegicus	EPG5	RGD	RGD:1306286
Canis familiaris	EPG5	VGNC	VGNC:40402
Mus musculus	EPG5	MGD	MGI:1918673

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