RIN2 (Gene)

Synonyms:ENTREZ:54453, HGNC:18750, MACS, MIM:610222, NM_001242581, NM_001378236, NM_001378238, NM_018993, NP_001229510, NP_001365167, NP_061866, RASSF4, RIN2, Ras and Rab interactor 2, XM_005260731, XM_006723574, XM_006723577, XM_011529255, XM_011529257, XM_011529258, XM_011529259, XM_017027887, XM_017027888, XM_017027889, XM_017027890, XM_017027891, XM_017027892, XM_017027893, XM_024451911, XM_024451912, XM_024451913, XP_005260788, XP_006723637, XP_006723640, XP_011527557, XP_011527559, XP_011527560, XP_011527561, XP_016883376, XP_016883377, XP_016883378, XP_016883379, XP_016883380, XP_016883381, XP_016883382, XP_024307679, XP_024307680, XP_024307681
Omim:OMIM:610222
Id:ENSG00000132669
Hgnc:HGNC:18750
Entrez:54453
Description:Ras and Rab interactor 2
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]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View RIN2's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with RIN2.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using RIN2.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for RIN2.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with RIN2.

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