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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	11267
Gene name	SNF8 subunit of ESCRT-II
Gene symbol	SNF8
Synonyms (NCBI Gene)	DEE115Dot3EAP30NEDOAVPS22
Chromosome	17
Chromosome location	17q21.32
Summary	The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049084	hsa-miR-92a-3p	CLASH	23622248
MIRT049084	hsa-miR-92a-3p	CLASH	23622248
MIRT052759	hsa-miR-1260b	CLASH	23622248
MIRT1375478	hsa-miR-1972	CLIP-seq
MIRT1375479	hsa-miR-4261	CLIP-seq
MIRT1375480	hsa-miR-4305	CLIP-seq
MIRT1375481	hsa-miR-4496	CLIP-seq
MIRT2111646	hsa-miR-1281	CLIP-seq
MIRT2111647	hsa-miR-3064-3p	CLIP-seq
MIRT2111648	hsa-miR-4715-3p	CLIP-seq
MIRT2111649	hsa-miR-4776-3p	CLIP-seq
MIRT2111646	hsa-miR-1281	CLIP-seq
MIRT2111647	hsa-miR-3064-3p	CLIP-seq
MIRT2334839	hsa-miR-370	CLIP-seq
MIRT2334840	hsa-miR-3929	CLIP-seq
MIRT2334841	hsa-miR-4419b	CLIP-seq
MIRT2334842	hsa-miR-4452	CLIP-seq
MIRT2334843	hsa-miR-4478	CLIP-seq
MIRT2111648	hsa-miR-4715-3p	CLIP-seq
MIRT2334844	hsa-miR-4726-3p	CLIP-seq
MIRT2334845	hsa-miR-4763-5p	CLIP-seq
MIRT2111649	hsa-miR-4776-3p	CLIP-seq
MIRT2629000	hsa-miR-186	CLIP-seq
MIRT2629001	hsa-miR-3126-5p	CLIP-seq
MIRT2629002	hsa-miR-4419a	CLIP-seq
MIRT2629003	hsa-miR-4510	CLIP-seq
MIRT2629004	hsa-miR-548ae	CLIP-seq
MIRT2629005	hsa-miR-548aj	CLIP-seq
MIRT2629006	hsa-miR-548am	CLIP-seq
MIRT2629007	hsa-miR-548x	CLIP-seq
MIRT2629000	hsa-miR-186	CLIP-seq
MIRT2629001	hsa-miR-3126-5p	CLIP-seq
MIRT2629002	hsa-miR-4419a	CLIP-seq
MIRT2629003	hsa-miR-4510	CLIP-seq
MIRT2629004	hsa-miR-548ae	CLIP-seq
MIRT2629005	hsa-miR-548aj	CLIP-seq
MIRT2629006	hsa-miR-548am	CLIP-seq
MIRT2629007	hsa-miR-548x	CLIP-seq

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Transcription factor	Regulation	Reference
MCM2	Unknown	19819239

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000814	Component	ESCRT II complex	IBA
GO:0000814	Component	ESCRT II complex	IDA	16973552
GO:0000814	Component	ESCRT II complex	IEA
GO:0000814	Component	ESCRT II complex	IPI	18539118
GO:0000814	Component	ESCRT II complex	TAS	20588296, 21118109
GO:0005515	Function	Protein binding	IPI	14505570, 14519844, 16189514, 16973552, 17010938, 17959629, 19819239, 21516116, 22978549, 23171048, 23455924, 25416956, 28514442, 29892012, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	23171048
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IDA	10419521
GO:0005737	Component	Cytoplasm	IDA	22978549, 23171048
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA	17010938
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	22978549
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	10419521
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	10419521
GO:0008289	Function	Lipid binding	IPI	18539118
GO:0010008	Component	Endosome membrane	IDA	16973552
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22978549
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IDA	23171048
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	IMP	38423010
GO:0016236	Process	Macroautophagy	TAS	20588296
GO:0016247	Function	Channel regulator activity	IDA	23171048
GO:0031902	Component	Late endosome membrane	IDA	17010938
GO:0031902	Component	Late endosome membrane	IEA
GO:0032456	Process	Endocytic recycling	IMP	17714434
GO:0036258	Process	Multivesicular body assembly	IMP	38423010
GO:0036258	Process	Multivesicular body assembly	NAS	18539118
GO:0036258	Process	Multivesicular body assembly	TAS	20588296
GO:0042176	Process	Regulation of protein catabolic process	IMP	17714434
GO:0042803	Function	Protein homodimerization activity	IPI	14505570, 14519844
GO:0043328	Process	Protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IBA
GO:0043328	Process	Protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	NAS	18539118
GO:0043405	Process	Regulation of MAP kinase activity	IMP	17714434
GO:0045022	Process	Early endosome to late endosome transport	IMP	17714434
GO:0045732	Process	Positive regulation of protein catabolic process	IMP	17959629
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17714434
GO:0055037	Component	Recycling endosome	IDA	17714434
GO:0061635	Process	Regulation of protein complex stability	IMP	17714434
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071985	Process	Multivesicular body sorting pathway	IEA
GO:0071985	Process	Multivesicular body sorting pathway	IMP	38423010
GO:0071985	Process	Multivesicular body sorting pathway	TAS	21118109
GO:0090148	Process	Membrane fission	NAS	18539118
GO:1903543	Process	Positive regulation of exosomal secretion	IMP	22660413

MIM	HGNC	e!Ensembl
610904	17028	ENSG00000159210

Q96H20

Protein name

Vacuolar-sorting protein SNF8 (ELL-associated protein of 30 kDa) (ESCRT-II complex subunit VPS22) (hVps22)

Protein function

Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs, and plays a role in autophagy (PubMed:38423010). The MV

PDB

2ZME , 3CUQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04157	EAP30	6 → 226	EAP30/Vps36 family	Family

Sequence

MHRRGVGAGAIAKKKLAEAKYKERGTVLAEDQLAQMSKQLDMFKTNLEEFASKHKQEIRK
NPEFRVQFQDMCATIGVDPLASGKGFWSEMLGVGDFYYELGVQIIEVCLALKHRNGGLIT
LEELHQQVLKGRGKFAQDVSQDDLIRAIKKLKALGTGFGIIPVGGTYLIQSVPAELNMDH
TVVLQLAEKNGYVTVSEIKASLKWETERARQVLEHLLKEGLAWLDLQAPGEAHYWLPALF
TDLYSQEITAEEAREALP

Sequence length

258

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy 115	Pathogenic	rs750828431, rs2040862241, rs2041013413, rs767243173	RCV003994556 RCV003994557 RCV003993691 RCV003993692	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder plus optic atrophy	Pathogenic	rs2041013413, rs113908000, rs2509787371	RCV003994558 RCV003994559 RCV004011323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SNF8-associated disease	Pathogenic	rs750828431, rs2040862241, rs2041013413, rs767243173, rs113908000, rs2509787371	RCV003447437 RCV003447438 RCV003447439 RCV003447440 RCV003447441 RCV003447442 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SNF8-associated disorder	Pathogenic	rs750828431, rs2040862241	RCV005622235 RCV005622236	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Aganglionic megacolon	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arteriosclerosis	Arteriosclerosis	BEFREE	23667179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23667179		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10419521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10419521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15992541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15992541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15992541		★★★★★ ★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	25211147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	25211147		★★★★★ ★☆☆☆☆ Found in Text Mining only

SNF8 (SNF8 subunit of ESCRT-II)