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
196313082009RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.18
204248612010The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).14
244492012014Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.2
290992662018Calpain2 mediates Rab5-driven focal adhesion disassembly and cell migration.2
272773852016RIN2 syndrome: Expanding the clinical phenotype.0

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