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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54453
Gene name Gene Name - the full gene name approved by the HGNC.	Ras and Rab interactor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RIN2
Synonyms (NCBI Gene) Gene synonyms aliases	MACS, RASSF4
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20p11.23
Summary Summary of gene provided in NCBI Entrez Gene.	The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs183028833	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, upstream transcript variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs183141566	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs199954296	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs200780805	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201486809	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201964534	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs587776915	GC>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs759390822	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs1568718508	->C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1600939486	->AC	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant

Show/Hide all(46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016643	hsa-miR-429	Reporter assay	20005803
MIRT020353	hsa-miR-200a-3p	Reporter assay	20005803
MIRT021076	hsa-miR-200c-3p	Reporter assay	20005803
MIRT021656	hsa-miR-141-3p	Reporter assay	20005803
MIRT024130	hsa-miR-200b-3p	Reporter assay	20005803
MIRT1307290	hsa-miR-3910	CLIP-seq
MIRT1307291	hsa-miR-4668-3p	CLIP-seq
MIRT1307292	hsa-miR-4717-3p	CLIP-seq
MIRT1307293	hsa-miR-4778-5p	CLIP-seq
MIRT1307294	hsa-miR-548an	CLIP-seq
MIRT1307295	hsa-miR-944	CLIP-seq
MIRT1307296	hsa-miR-101	CLIP-seq
MIRT1307297	hsa-miR-144	CLIP-seq
MIRT1307298	hsa-miR-485-3p	CLIP-seq
MIRT1307299	hsa-miR-487a	CLIP-seq
MIRT2091087	hsa-miR-1238	CLIP-seq
MIRT2091088	hsa-miR-607	CLIP-seq
MIRT2432749	hsa-miR-3163	CLIP-seq
MIRT2432750	hsa-miR-4645-3p	CLIP-seq
MIRT2432751	hsa-miR-4772-3p	CLIP-seq
MIRT2432752	hsa-miR-891b	CLIP-seq
MIRT2611874	hsa-miR-1267	CLIP-seq
MIRT2611875	hsa-miR-217	CLIP-seq
MIRT2611876	hsa-miR-3130-3p	CLIP-seq
MIRT2611877	hsa-miR-3133	CLIP-seq
MIRT2611878	hsa-miR-3182	CLIP-seq
MIRT2611879	hsa-miR-4452	CLIP-seq
MIRT2611880	hsa-miR-4511	CLIP-seq
MIRT2611881	hsa-miR-4659a-3p	CLIP-seq
MIRT2611882	hsa-miR-4659b-3p	CLIP-seq
MIRT2611883	hsa-miR-4686	CLIP-seq
MIRT2611884	hsa-miR-4793-3p	CLIP-seq
MIRT2611885	hsa-miR-521	CLIP-seq
MIRT2611886	hsa-miR-544	CLIP-seq
MIRT2611887	hsa-miR-595	CLIP-seq
MIRT2611888	hsa-miR-643	CLIP-seq
MIRT2611889	hsa-miR-653	CLIP-seq
MIRT2611874	hsa-miR-1267	CLIP-seq
MIRT2611875	hsa-miR-217	CLIP-seq
MIRT2611879	hsa-miR-4452	CLIP-seq
MIRT2611883	hsa-miR-4686	CLIP-seq
MIRT2611885	hsa-miR-521	CLIP-seq
MIRT2689775	hsa-miR-579	CLIP-seq
MIRT2611889	hsa-miR-653	CLIP-seq
MIRT2689776	hsa-miR-664	CLIP-seq
MIRT2689777	hsa-miR-548t	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	NAS	11733506
GO:0005096	Function	GTPase activator activity	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006897	Process	Endocytosis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	NAS	1849280
GO:0010595	Process	Positive regulation of endothelial cell migration	IMP	22825554
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030139	Component	Endocytic vesicle	IBA
GO:0030695	Function	GTPase regulator activity	NAS	1849280
GO:0031267	Function	Small GTPase binding	IBA
GO:1904906	Process	Positive regulation of endothelial cell-matrix adhesion via fibronectin	IMP	22825554
GO:2001214	Process	Positive regulation of vasculogenesis	IMP	22825554

MIM	HGNC	e!Ensembl
610222	18750	ENSG00000132669

Protein

UniProt ID

Q8WYP3

Protein name

Ras and Rab interactor 2 (Ras association domain family 4) (Ras inhibitor JC265) (Ras interaction/interference protein 2)

Protein function

Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02204	VPS9	651 → 753	Vacuolar sorting protein 9 (VPS9) domain	Family
PF00788	RA	787 → 878	Ras association (RalGDS/AF-6) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in heart, kidney, lung placenta. Expressed at low level in skeletal muscle, spleen and peripheral blood. {ECO:0000269|PubMed:11733506}.

Sequence

MTAWTMGARGLDKRGSFFKLIDTIASEIGELKQEMVRTDVNLENGLEPAETHSMVRHKDG
GYSEEEDVKTCARDSGYDSLSNRLSILDRLLHTHPIWLQLSLSEEEAAEVLQAQPPGIFL
VHKSTKMQKKVLSLRLPCEFGAPLKEFAIKESTYTFSLEGSGISFADLFRLIAFYCISRD
VLPFTLKLPYAISTAKSEAQLEELAQMGLNFWSSPADSKPPNLPPPHRPLSSDGVCPASL
RQLCLINGVHSIKTRTPSELECSQTNGALCFINPLFLKVHSQDLSGGLKRPSTRTPNANG
TERTRSPPPRPPPPAINSLHTSPRLARTETQTSMPETVNHNKHGNVALPGTKPTPIPPPR
LKKQASFLEAEGGAKTLSGGRPGAGPELELGTAGSPGGAPPEAAPGDCTRAPPPSSESRP
PCHGGRQRLSDMSISTSSSDSLEFDRSMPLFGYEADTNSSLEDYEGESDQETMAPPIKSK
KKRSSSFVLPKLVKSQLQKVSGVFSSFMTPEKRMVRRIAELSRDKCTYFGCLVQDYVSFL
QENKECHVSSTDMLQTIRQFMTQVKNYLSQSSELDPPIESLIPEDQIDVVLEKAMHKCIL
KPLKGHVEAMLKDFHMADGSWKQLKENLQLVRQRNPQELGVFAPTPDFVDVEKIKVKFMT
MQKMYSPEKKVMLLLRVCKLIYTVMENNSGRMYGADDFLPVLTYVIAQCDMLELDTEIEY
MMELLDPSLLHGEGGYYLTSAYGALSLIKNFQEEQAARLLSSETRDTLRQWHKRRTTNRT
IPSVDDFQNYLRVAFQEVNSGCTGKTLLVRPYITTEDVCQICAEKFKVGDPEEYSLFLFV
DETWQQLAEDTYPQKIKAELHSRPQPHIFHFVYKRIKNDPYGIIFQNGEEDLTTS

Sequence length

895

Interactions

View interactions

	Reactome
			RAB GEFs exchange GTP for GDP on RABs

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
RIN2 Syndrome	rin2 syndrome	rs759390822, rs587776915, rs1568718508, rs1600939486	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	23243219
Alopecia	Associate	19631308
Barrett Esophagus	Associate	23243219
Carcinogenesis	Associate	23243219
Cutis Laxa	Associate	19631308
Immunologic Deficiency Syndromes	Inhibit	19631308
Leukoencephalopathies	Associate	23963297
Macrocephaly Alopecia Cutis Laxa and Scoliosis	Associate	19631308
Megalencephaly	Associate	19631308
Osteoporosis	Associate	38484114
Retinal Dysplasia	Associate	23243219
Scoliosis	Associate	19631308

RIN2 (Ras and Rab interactor 2)