Tbio RIN2 Ras and Rab interactor 2

Protein Summary

Description

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 GDP for free GTP. 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 exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

Uniprot Accession IDs

• Q8WYP3
• Q00425
• Q5TFT8
• Q9BQL3
• Q9H071

Gene Name

• RIN2

Ensembl ID

• ENST00000255006
• ENSP00000255006
• ENSG00000132669
• ENST00000648440
• ENSP00000498085

Symbol

• RASSF4
• MACS
• RASSF4

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	0.98
drug perturbation	0.87
virus perturbation	0.83
small molecule perturbation	0.77
transcription factor	0.7

Protein Classes

PANTHER Classes

Protein / Membrane Traffic Protein / Membrane Trafficking Regulatory Protein / Ras And Rab Interactor 2

Protein / Enzyme Modulator / G-protein Modulator / Guanyl-nucleotide Exchange Factor / Ras And Rab Interactor 2

DTO Classes

Protein / Enzyme Modulator / G-protein Modulator / Guanyl-nucleotide Exchange Factor / Ras And Rab Interactor 2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 36   (req: < 5)

Gene RIFs: 9   (req: <= 3)

Antibodies: 74   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 36   (req: >= 5)

Gene RIFs: 9   (req: > 3)

Antibodies: 74   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0