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	64145
Gene name	Rabenosyn, RAB effector
Gene symbol	RBSN
Synonyms (NCBI Gene)	KAREVSMFANDORabenosyn-5ZFYVE20
Chromosome	3
Chromosome location	3p25.1
Summary	This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endo

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miRTarBase ID	miRNA	Experiments	Reference
MIRT439233	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT439233	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT741217	hsa-miR-1321	PAR-CLIP	27292025
MIRT741224	hsa-miR-3160-3p	PAR-CLIP	27292025
MIRT741231	hsa-miR-3689d	PAR-CLIP	27292025
MIRT741228	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT741226	hsa-miR-4487	PAR-CLIP	27292025
MIRT741236	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT741218	hsa-miR-4739	PAR-CLIP	27292025
MIRT741219	hsa-miR-4756-5p	PAR-CLIP	27292025
MIRT741225	hsa-miR-558	PAR-CLIP	27292025
MIRT741229	hsa-miR-6086	PAR-CLIP	27292025
MIRT741227	hsa-miR-6134	PAR-CLIP	27292025
MIRT741230	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT741237	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT741233	hsa-miR-6799-5p	PAR-CLIP	27292025
MIRT741238	hsa-miR-6808-5p	PAR-CLIP	27292025
MIRT741232	hsa-miR-6851-5p	PAR-CLIP	27292025
MIRT741234	hsa-miR-6880-5p	PAR-CLIP	27292025
MIRT741223	hsa-miR-7113-5p	PAR-CLIP	27292025
MIRT741235	hsa-miR-7847-3p	PAR-CLIP	27292025
MIRT741216	hsa-miR-6753-5p	HITS-CLIP	23706177
MIRT741217	hsa-miR-1321	HITS-CLIP	23706177
MIRT741218	hsa-miR-4739	HITS-CLIP	23706177
MIRT741219	hsa-miR-4756-5p	HITS-CLIP	23706177
MIRT741220	hsa-miR-4270	HITS-CLIP	23706177
MIRT741221	hsa-miR-4441	HITS-CLIP	23706177
MIRT741222	hsa-miR-6754-5p	HITS-CLIP	23706177
MIRT741223	hsa-miR-7113-5p	HITS-CLIP	23706177
MIRT741224	hsa-miR-3160-3p	HITS-CLIP	23706177
MIRT741225	hsa-miR-558	HITS-CLIP	23706177
MIRT741226	hsa-miR-4487	HITS-CLIP	23706177
MIRT741227	hsa-miR-6134	HITS-CLIP	23706177
MIRT741228	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT741229	hsa-miR-6086	HITS-CLIP	23706177
MIRT741230	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT741231	hsa-miR-3689d	HITS-CLIP	23706177
MIRT741232	hsa-miR-6851-5p	HITS-CLIP	23706177
MIRT741233	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT741234	hsa-miR-6880-5p	HITS-CLIP	23706177
MIRT741235	hsa-miR-7847-3p	HITS-CLIP	23706177
MIRT741236	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT741237	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT741238	hsa-miR-6808-5p	HITS-CLIP	23706177
MIRT742439	hsa-miR-562	HITS-CLIP	23824327
MIRT742440	hsa-miR-1179	HITS-CLIP	23824327
MIRT742441	hsa-miR-3973	HITS-CLIP	23824327
MIRT742442	hsa-miR-4310	HITS-CLIP	23824327
MIRT742443	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT742444	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT742445	hsa-miR-1976	HITS-CLIP	23824327
MIRT742446	hsa-miR-513a-5p	HITS-CLIP	23824327
MIRT742447	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT742448	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT742449	hsa-miR-4279	HITS-CLIP	23824327
MIRT742450	hsa-miR-8485	HITS-CLIP	23824327
MIRT742451	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT742452	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT742453	hsa-miR-6793-3p	HITS-CLIP	23824327
MIRT754048	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT754049	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT754050	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT754051	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT754052	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT754053	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT754054	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT754055	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT754056	hsa-miR-1183	PAR-CLIP	20371350
MIRT754057	hsa-miR-3681-5p	PAR-CLIP	20371350
MIRT754058	hsa-miR-6849-5p	PAR-CLIP	20371350
MIRT754059	hsa-miR-875-5p	PAR-CLIP	20371350
MIRT754060	hsa-miR-4272	PAR-CLIP	20371350
MIRT742441	hsa-miR-3973	PAR-CLIP	20371350
MIRT754061	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT754062	hsa-miR-520h	PAR-CLIP	20371350
MIRT754063	hsa-miR-20b-3p	PAR-CLIP	20371350
MIRT754064	hsa-miR-5093	PAR-CLIP	20371350
MIRT754065	hsa-miR-6073	PAR-CLIP	20371350
MIRT754066	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT754067	hsa-miR-933	PAR-CLIP	20371350
MIRT754068	hsa-miR-4777-3p	PAR-CLIP	20371350
MIRT754069	hsa-let-7i-3p	PAR-CLIP	20371350
MIRT754070	hsa-miR-4662a-3p	PAR-CLIP	20371350
MIRT754071	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT754072	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT754073	hsa-miR-6768-5p	PAR-CLIP	20371350
MIRT741216	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT741217	hsa-miR-1321	PAR-CLIP	23592263
MIRT741218	hsa-miR-4739	PAR-CLIP	23592263
MIRT741219	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT741220	hsa-miR-4270	PAR-CLIP	23592263
MIRT741221	hsa-miR-4441	PAR-CLIP	23592263
MIRT741222	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT741223	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT741224	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT741225	hsa-miR-558	PAR-CLIP	23592263
MIRT741226	hsa-miR-4487	PAR-CLIP	23592263
MIRT741227	hsa-miR-6134	PAR-CLIP	23592263
MIRT741228	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT741229	hsa-miR-6086	PAR-CLIP	23592263
MIRT741230	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT741231	hsa-miR-3689d	PAR-CLIP	23592263
MIRT741232	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT741233	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT741234	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT741235	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT741236	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT741237	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT741238	hsa-miR-6808-5p	PAR-CLIP	23592263

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15020713, 16034420, 25416956, 28514442, 29997244, 32296183, 33961781, 35271311
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	NAS	11062261
GO:0005769	Component	Early endosome	IDA	35652444
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	11062261
GO:0010008	Component	Endosome membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	NAS	11062261
GO:0031267	Function	Small GTPase binding	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	35652444
GO:0034498	Process	Early endosome to Golgi transport	IMP	19139087
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0090160	Process	Golgi to lysosome transport	IMP	19139087
GO:1903358	Process	Regulation of Golgi organization	IMP	19139087

MIM	HGNC	e!Ensembl
609511	20759	ENSG00000131381

Q9H1K0

Protein name

Rabenosyn-5 (110 kDa protein) (FYVE finger-containing Rab5 effector protein rabenosyn-5) (RAB effector RBSN) (Zinc finger FYVE domain-containing protein 20)

Protein function

Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking o

PDB

1YZM , 1Z0J , 1Z0K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01363	FYVE	152 → 261	FYVE zinc finger	Domain
PF11464	Rbsn	458 → 499	Rabenosyn Rab binding domain	Domain
PF16601	NPF	548 → 737		Disordered
PF11464	Rbsn	738 → 779	Rabenosyn Rab binding domain	Domain

Sequence

MASLDDPGEVREGFLCPLCLKDLQSFYQLHSHYEEEHSGEDRDVKGQIKSLVQKAKKAKD
RLLKREGDDRAESGTQGYESFSYGGVDPYMWEPQELGAVRSHLSDFKKHRAARIDHYVVE
VNKLIIRLEKLTAFDRTNTESAKIRAIEKSVVPWVNDQDVPFCPDCGNKFSIRNRRHHCR
LCGSIMCKKCMELISLPLANKLTSASKESLSTHTSPSQSPNSVHGSRRGSISSMSSVSSV
LDEKDDDRIRCCTHCKDTLLKREQQIDEKEHTPDIVKLYEKLRLCMEKVDQKAPEYIRMA
ASLNAGETTYSLEHASDLRVEVQKVYELIDALSKKILTLGLNQDPPPHPSNLRLQRMIRY
SATLFVQEKLLGLMSLPTKEQFEELKKKRKEEMERKRAVERQAALESQRRLEERQSGLAS
RAANGEVASLRRGPAPLRKAEGWLPLSGGQGQSEDSDPLLQQIHNITSFIRQAKAAGRMD
EVRTLQENLRQLQDEYDQQQTEKAIELSRRQAEEEDLQREQLQMLRERELEREREQFRVA
SLHTRTRSLDFREIGPFQLEPSREPRTHLAYALDLGSSPVPSSTAPKTPSLSSTQPTRVW
SGPPAVGQERLPQSSMPQQHEGPSLNPFDEEDLSSPMEEATTGPPAAGVSLDPSARILKE
YNPFEEEDEEEEAVAGNPFIQPDSPAPNPFSEEDEHPQQRLSSPLVPGNPFEEPTCINPF
EMDSDSGPEAEEPIEEELLLQQIDNIKAYIFDAKQCGRLDEVEVLTENLRELKHTLAKQK
GGTD

Sequence length

784

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		Toll Like Receptor 9 (TLR9) Cascade Factors involved in megakaryocyte development and platelet production

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 (8)

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.
CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kariminejad neurodevelopmental syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES	—	ClinVar, HPO ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RBSN-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bone Diseases Metabolic	Bone disease	Pubtator	25233840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	27296891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia-myelofibrosis-nephromegaly syndrome	Congenital Neutropenia, Myelofibrosis, Nephromegaly Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	25233840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	25233840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	Neutropenia	ORPHANET_DG	29784638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	25233840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RBSN (rabenosyn, RAB effector)