RIN2 (Ras and Rab interactor 2)

2006-10-01  

Identity

HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
MACS,RASSF4
FUSION GENES

Other Information

Locus ID:

NCBI: 54453
MIM: 610222
HGNC: 18750
Ensembl: ENSG00000132669

Variants:

dbSNP: 54453
ClinVar: 54453
TCGA: ENSG00000132669
COSMIC: RIN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132669ENST00000255006Q8WYP3
ENSG00000132669ENST00000440354E7EPJ1
ENSG00000132669ENST00000648440Q8WYP3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

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
365201962023Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion.1
378273432023NAA20 recruits Rin2 and promotes triple-negative breast cancer progression by regulating Rab5A-mediated activation of EGFR signaling.0
365201962023Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion.1
378273432023NAA20 recruits Rin2 and promotes triple-negative breast cancer progression by regulating Rab5A-mediated activation of EGFR signaling.0
339835392021The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis.16
339835392021The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis.16
307692242020Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.1
307692242020Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.1
290992662018Calpain2 mediates Rab5-driven focal adhesion disassembly and cell migration.6
290992662018Calpain2 mediates Rab5-driven focal adhesion disassembly and cell migration.6
272773852016RIN2 syndrome: Expanding the clinical phenotype.3
272773852016RIN2 syndrome: Expanding the clinical phenotype.3
244492012014Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.3
244492012014Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.3
204248612010The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).19

Citation

Dessen P

RIN2 (Ras and Rab interactor 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43469/rin2