RIN2 Ras and Rab interactor 2
Gene ID: 54453, updated on 3-Apr-2024Gene type: protein coding
Also known as: MACS; RASSF4
- See all available tests in GTR for this gene
- Go to complete Gene record for RIN2
- Go to Variation Viewer for RIN2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| RIN2 syndrome | See labs |
Genomic context
- Location:
- 20p11.23
- Sequence:
- Chromosome: 20; NC_000020.11 (19757599..20002456)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RIN2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RIN2 database
- Variation ViewerRelated Variants
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