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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	89853
Gene name	Multivesicular body subunit 12B
Gene symbol	MVB12B
Synonyms (NCBI Gene)	C9orf28FAM125B
Chromosome	9
Chromosome location	9q33.3
Summary	The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding a

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Show/Hide all (125)

miRTarBase ID	miRNA	Experiments	Reference
MIRT036903	hsa-miR-877-3p	CLASH	23622248
MIRT628708	hsa-miR-8485	HITS-CLIP	21572407
MIRT667331	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT667330	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT667329	hsa-miR-603	HITS-CLIP	21572407
MIRT707335	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT667328	hsa-miR-3941	HITS-CLIP	21572407
MIRT667327	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT628708	hsa-miR-8485	HITS-CLIP	23824327
MIRT667331	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT667330	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT667329	hsa-miR-603	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT667328	hsa-miR-3941	HITS-CLIP	23824327
MIRT667327	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT628708	hsa-miR-8485	HITS-CLIP	23824327
MIRT667331	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT667330	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT667329	hsa-miR-603	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT667328	hsa-miR-3941	HITS-CLIP	23824327
MIRT667327	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT646330	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT646329	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT646328	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT646327	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT646326	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT646325	hsa-miR-4330	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT630803	hsa-miR-3909	HITS-CLIP	23824327
MIRT630802	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT628702	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT628701	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT630803	hsa-miR-3909	HITS-CLIP	23824327
MIRT630802	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT628708	hsa-miR-8485	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT628702	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT628701	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	27418678
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	27418678
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	27418678
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	27418678
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	27418678
MIRT628708	hsa-miR-8485	HITS-CLIP	27418678
MIRT628708	hsa-miR-8485	HITS-CLIP	21572407
MIRT667331	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT667330	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT667329	hsa-miR-603	HITS-CLIP	21572407
MIRT707335	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT667328	hsa-miR-3941	HITS-CLIP	21572407
MIRT667327	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT628708	hsa-miR-8485	HITS-CLIP	23824327
MIRT667331	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT667330	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT667329	hsa-miR-603	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT667328	hsa-miR-3941	HITS-CLIP	23824327
MIRT667327	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT628708	hsa-miR-8485	HITS-CLIP	23824327
MIRT667331	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT667330	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT667329	hsa-miR-603	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT667328	hsa-miR-3941	HITS-CLIP	23824327
MIRT667327	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT646330	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT646329	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT646328	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT646327	hsa-miR-6784-3p	HITS-CLIP	23824327
MIRT646326	hsa-miR-6862-3p	HITS-CLIP	23824327
MIRT646325	hsa-miR-4330	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT630803	hsa-miR-3909	HITS-CLIP	23824327
MIRT630802	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT628702	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT628701	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT630803	hsa-miR-3909	HITS-CLIP	23824327
MIRT630802	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT628708	hsa-miR-8485	HITS-CLIP	23824327
MIRT628707	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT628706	hsa-miR-5582-5p	HITS-CLIP	23824327
MIRT628705	hsa-miR-4269	HITS-CLIP	23824327
MIRT628704	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT628703	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT628702	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT628701	hsa-miR-2355-3p	HITS-CLIP	23824327

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000813	Component	ESCRT I complex	IBA
GO:0000813	Component	ESCRT I complex	IDA	18005716, 20654576
GO:0000813	Component	ESCRT I complex	IEA
GO:0000813	Component	ESCRT I complex	IPI	18005716
GO:0000813	Component	ESCRT I complex	ISS
GO:0005515	Function	Protein binding	IPI	20654576, 25416956, 28514442, 33961781
GO:0005634	Component	Nucleus	IDA	22232651
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	22232651
GO:0005770	Component	Late endosome	IBA
GO:0005770	Component	Late endosome	IDA	22232651
GO:0005829	Component	Cytosol	IDA	22232651
GO:0005886	Component	Plasma membrane	IDA	22232651
GO:0008289	Function	Lipid binding	IMP	22232651
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:0019075	Process	Virus maturation	IBA
GO:0019075	Process	Virus maturation	IMP	18005716
GO:0031902	Component	Late endosome membrane	IEA
GO:0031982	Component	Vesicle	IDA	20654576
GO:0036258	Process	Multivesicular body assembly	NAS	32424346
GO:0042058	Process	Regulation of epidermal growth factor receptor signaling pathway	IBA
GO:0042058	Process	Regulation of epidermal growth factor receptor signaling pathway	IMP	20654576
GO:0043130	Function	Ubiquitin binding	IDA	20654576
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IC	20654576
GO:0043328	Process	Protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	NAS	32424346
GO:0046755	Process	Viral budding	IBA
GO:0046755	Process	Viral budding	IMP	18005716
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0090148	Process	Membrane fission	NAS	32424346

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q9H7P6

Protein name

Multivesicular body subunit 12B (ESCRT-I complex subunit MVB12B) (Protein FAM125B)

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.

PDB

3TOW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10240	DUF2464	48 → 299	Multivesicular body subunit 12	Family

Sequence

MRSCFCVRRSRDPPPPQPPPPPPQRGTDQSTMPEVKDLSEALPETSMDPITGVGVVASRN
RAPTGYDVVAQTADGVDADLWKDGLFKSKVTRYLCFTRSFSKENSHLGNVLVDMKLIDIK
DTLPVGFIPIQETVDTQEVAFRKKRLCIKFIPRDSTEAAICDIRIMGRTKQAPPQYTFIG
ELNSMGIWYRMGRVPRNHDSSQPTTPSQSSAASTPAPNLPRHISLTLPATFRGRNSTRTD
YEYQHSNLYAISAMDGVPFMISEKFSCVPESMQPFDLLGITIKSLAEIEKEYEYSFRTEQ
SAAARLPPSPTRCQQIPQS

Sequence length

319

Interactions

View interactions

	KEGG		Reactome
	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)

Show/Hide Unknown Diseases (17)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MVB12B-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Developmental Disabilities	Associate	27363808	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Associate	24518671	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	33504897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Associate	33504897	★★★★★ ★☆☆☆☆ Found in Text Mining only
Klinefelter Syndrome	Associate	32959501	★★★★★ ★☆☆☆☆ Found in Text Mining only

MVB12B (multivesicular body subunit 12B)