Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	155382
Gene name	VPS37D subunit of ESCRT-I
Gene symbol	VPS37D
Synonyms (NCBI Gene)	WBSCR24
Chromosome	7
Chromosome location	7q11.23

77 Show/Hide all (77)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020000	hsa-miR-375	Microarray	20215506
MIRT568811	hsa-miR-1296-3p	PAR-CLIP	20371350
MIRT568810	hsa-miR-194-3p	PAR-CLIP	20371350
MIRT568809	hsa-miR-505-5p	PAR-CLIP	20371350
MIRT568808	hsa-miR-765	PAR-CLIP	20371350
MIRT568807	hsa-miR-34a-5p	PAR-CLIP	20371350
MIRT568806	hsa-miR-34c-5p	PAR-CLIP	20371350
MIRT568805	hsa-miR-449a	PAR-CLIP	20371350
MIRT568804	hsa-miR-449b-5p	PAR-CLIP	20371350
MIRT568802	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT568803	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT568801	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT568800	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT568799	hsa-miR-5698	PAR-CLIP	20371350
MIRT568798	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT568797	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT568796	hsa-miR-4525	PAR-CLIP	20371350
MIRT568795	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT568794	hsa-miR-4447	PAR-CLIP	20371350
MIRT568792	hsa-miR-4472	PAR-CLIP	20371350
MIRT568793	hsa-miR-1275	PAR-CLIP	20371350
MIRT568791	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT568790	hsa-miR-4739	PAR-CLIP	20371350
MIRT568811	hsa-miR-1296-3p	PAR-CLIP	20371350
MIRT568810	hsa-miR-194-3p	PAR-CLIP	20371350
MIRT568809	hsa-miR-505-5p	PAR-CLIP	20371350
MIRT568808	hsa-miR-765	PAR-CLIP	20371350
MIRT568807	hsa-miR-34a-5p	PAR-CLIP	20371350
MIRT568806	hsa-miR-34c-5p	PAR-CLIP	20371350
MIRT568805	hsa-miR-449a	PAR-CLIP	20371350
MIRT568804	hsa-miR-449b-5p	PAR-CLIP	20371350
MIRT568802	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT568803	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT568801	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT568800	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT568799	hsa-miR-5698	PAR-CLIP	20371350
MIRT568798	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT568797	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT568796	hsa-miR-4525	PAR-CLIP	20371350
MIRT568795	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT568794	hsa-miR-4447	PAR-CLIP	20371350
MIRT568792	hsa-miR-4472	PAR-CLIP	20371350
MIRT568793	hsa-miR-1275	PAR-CLIP	20371350
MIRT568791	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT568790	hsa-miR-4739	PAR-CLIP	20371350
MIRT1486829	hsa-miR-3176	CLIP-seq
MIRT1486830	hsa-miR-331-3p	CLIP-seq
MIRT1486831	hsa-miR-3922-3p	CLIP-seq
MIRT1486832	hsa-miR-4729	CLIP-seq
MIRT1555551	hsa-miR-1913	CLIP-seq
MIRT1555552	hsa-miR-2861	CLIP-seq
MIRT1555553	hsa-miR-3184	CLIP-seq
MIRT1555554	hsa-miR-324-3p	CLIP-seq
MIRT1555555	hsa-miR-423-5p	CLIP-seq
MIRT1555556	hsa-miR-4716-3p	CLIP-seq
MIRT1555557	hsa-miR-4728-5p	CLIP-seq
MIRT1555558	hsa-miR-4749-3p	CLIP-seq
MIRT1555559	hsa-miR-4763-5p	CLIP-seq
MIRT2146494	hsa-miR-4261	CLIP-seq
MIRT2367087	hsa-miR-23a	CLIP-seq
MIRT2367088	hsa-miR-23b	CLIP-seq
MIRT2367089	hsa-miR-23c	CLIP-seq
MIRT2367090	hsa-miR-24	CLIP-seq
MIRT2367091	hsa-miR-3153	CLIP-seq
MIRT2367092	hsa-miR-3664-3p	CLIP-seq
MIRT2367093	hsa-miR-4260	CLIP-seq
MIRT2367094	hsa-miR-4436a	CLIP-seq
MIRT1486832	hsa-miR-4729	CLIP-seq
MIRT2367095	hsa-miR-4747-3p	CLIP-seq
MIRT2367096	hsa-miR-4793-5p	CLIP-seq
MIRT2367097	hsa-miR-548m	CLIP-seq
MIRT2367098	hsa-miR-625	CLIP-seq
MIRT2367099	hsa-miR-645	CLIP-seq
MIRT2396860	hsa-miR-3918	CLIP-seq
MIRT2396861	hsa-miR-4640-5p	CLIP-seq
MIRT2396862	hsa-miR-4685-5p	CLIP-seq
MIRT2396863	hsa-miR-4726-5p	CLIP-seq

23 Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000813	Component	ESCRT I complex	IBA
GO:0000813	Component	ESCRT I complex	IDA	18005716, 22405001
GO:0000813	Component	ESCRT I complex	IEA
GO:0000813	Component	ESCRT I complex	IPI	18005716, 21757351
GO:0000813	Component	ESCRT I complex	ISS
GO:0000813	Component	ESCRT I complex	TAS	20588296
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005768	Component	Endosome	IEA
GO:0006612	Process	Protein targeting to membrane	IBA
GO:0006623	Process	Protein targeting to vacuole	IBA
GO:0010008	Component	Endosome membrane	NAS	32424346
GO:0010008	Component	Endosome membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	TAS	20588296
GO:0031902	Component	Late endosome membrane	IEA
GO:0036258	Process	Multivesicular body assembly	NAS	32424346
GO:0036258	Process	Multivesicular body assembly	TAS	20588296
GO:0039702	Process	Viral budding via host ESCRT complex	TAS	20588296
GO:0043162	Process	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	32424346
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0090148	Process	Membrane fission	NAS	32424346

MIM	HGNC	e!Ensembl
610039	18287	ENSG00000176428

Q86XT2

Protein name

Vacuolar protein sorting-associated protein 37D (ESCRT-I complex subunit VPS37D) (Williams-Beuren syndrome chromosomal region 24 protein)

Protein function

Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07200	Mod_r	21 → 165	Modifier of rudimentary (Mod(r)) protein	Domain

Sequence

MYRARAARAGPEPGSPGRFGILSTGQLRDLLQDEPKLDRIVRLSRKFQGLQLEREACLAS
NYALAKENLALRPRLEMGRAALAIKYQELREVAENCADKLQRLEESMHRWSPHCALGWLQ
AELEEAEQEAEEQMEQLLLGEQSLEAFLPAFQRGRALAHLRRTQAEKLQELLRRRERSAQ
PAPTSAADPPKSFPAAAVLPTGAARGPPAVPRSLPPLDSRPVPPLKGSPGCPLGPAPLLS
PRPSQPEPPHR

Sequence length

251

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Endocytosis	Budding and maturation of HIV virion
	Membrane binding and targetting of GAG proteins
	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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (18)
ATRIAL FIBRILLATION	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	36428691	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	34594039	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	34441435	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	33462484, 40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	38201907, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	35047847	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	27790247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38201907, 38374256, 39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SUGP1	3	["Cancer","Liver cirrhosis","Diabetes mellitus"]	[]	6	["GWAS catalog (Cancer)","GWAS catalog (Liver cirrhosis)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Heart failure)","GWAS catalog (Nonalcoholic fatty liver disease)","GWAS catalog (Stroke)"]
MLXIPL	5	["Cancer","Cholecystolithiasis","Liver cirrhosis","Diabetes mellitus","Williams syndrome"]	[]	8	["GWAS catalog (Cancer)","GWAS catalog (Cholecystolithiasis)","GWAS catalog (Liver cirrhosis)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Heart failure)","GWAS catalog (Nonalcoholic fatty liver disease)","GWAS catalog (Stroke)","Disgenet (Williams syndrome)"]
BAZ1B	3	["Cancer","Diabetes mellitus","Williams syndrome"]	[]	6	["GWAS catalog (Cancer)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Heart failure)","GWAS catalog (Stroke)","Disgenet (Williams syndrome)","Orphanet (Williams syndrome)"]
BSX	2	["Cancer","Diabetes mellitus"]	[]	4	["GWAS catalog (Cancer)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Heart failure)","GWAS catalog (Stroke)"]
NRBP1	2	["Cancer","Diabetes mellitus"]	[]	4	["GWAS catalog (Cancer)","GWAS catalog (Diabetes mellitus)","GWAS catalog (Heart failure)","GWAS catalog (Stroke)"]

VPS37D (VPS37D subunit of ESCRT-I)

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