CYFIP2 cytoplasmic FMR1 interacting protein 2
Gene ID: 26999, updated on 2-Nov-2024Gene type: protein coding
Also known as: DEE65; EIEE65; PIR121
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- Go to complete Gene record for CYFIP2
- Go to Variation Viewer for CYFIP2 variants
Summary
Predicted to enable small GTPase binding activity. Involved in several processes, including activation of cysteine-type endopeptidase activity; cell-cell adhesion; and regulation of postsynapse assembly. Located in perinuclear region of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
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| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy, 65 | See labs |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 5q33.3
- Sequence:
- Chromosome: 5; NC_000005.10 (157266123..157395594)
- Total number of exons:
- 36
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CYFIP2 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
- Variation ViewerRelated Variants
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