RIN3 (Ras and Rab interactor 3)

2008-07-01  

Identity

HGNC
LOCATION
14q32.12
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 79890
MIM: 610223
HGNC: 18751
Ensembl: ENSG00000100599

Variants:

dbSNP: 79890
ClinVar: 79890
TCGA: ENSG00000100599
COSMIC: RIN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100599ENST00000216487Q8TB24
ENSG00000100599ENST00000555589G3V2I7
ENSG00000100599ENST00000556418H0YJ83
ENSG00000100599ENST00000557762G3V534
ENSG00000100599ENST00000620541A0A087WWY9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
249454042014Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.55
129725052003RIN3: a novel Rab5 GEF interacting with amphiphysin II involved in the early endocytic pathway.52
215865682011Characterization of RIN3 as a guanine nucleotide exchange factor for the Rab5 subfamily GTPase Rab31.17
262968922015Differential Recognition Preferences of the Three Src Homology 3 (SH3) Domains from the Adaptor CD2-associated Protein (CD2AP) and Direct Association with Ras and Rab Interactor 3 (RIN3).12
287381272017Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.8
257018752015Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.7
231853842012RIN3 is a negative regulator of mast cell responses to SCF.6
184866012008Tyr-phosphorylation signals translocate RIN3, the small GTPase Rab5-GEF, to early endocytic vesicles.5

Citation

Dessen P

RIN3 (Ras and Rab interactor 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50206/rin3