CHMP7 charged multivesicular body protein 7
Gene ID: 91782, updated on 6-Oct-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for CHMP7
- Go to Variation Viewer for CHMP7 variants
Summary
Involved in several processes, including late endosome to vacuole transport; midbody abscission; and mitotic nuclear division. Located in cytosol; nuclear envelope; and nucleoplasm. Part of ESCRT III complex. Colocalizes with chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2022-09-27) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2022-09-27) ClinGen Genome Curation Page |
Genomic context
- Location:
- 8p21.3
- Sequence:
- Chromosome: 8; NC_000008.11 (23243637..23261999)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHMP7 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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