Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= RIN2 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: RIN2 * **<color #00a2e8>Official Name</color>**: Ras and Rab interactor 2 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54453|54453]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8WYP3|Q8WYP3]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RIN2&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RIN2|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610222|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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. {ECO:0000269|PubMed:11733506}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |RA| |VPS9| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |GTPase regulator activity| |Rab guanyl-nucleotide exchange factor activity| |GTPase activator activity| |small GTPase mediated signal transduction| |positive regulation of GTPase activity| |cellular component| |regulation of GTPase activity| |endocytosis| |import into cell| |positive regulation of hydrolase activity| |regulation of hydrolase activity| |positive regulation of catalytic activity| |intracellular signal transduction| |positive regulation of molecular function| |vesicle-mediated transport| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp425|Beta-Estradiol 0.55μM R07 exp425]]|-2| |[[:results:exp49|NFN1 0.1μM R01 exp49]]|-1.96| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 5040 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 1.08 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='RIN2 Expression in NALM6 Cells: 1.08'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1