Gene Gene information from NCBI Gene database.
Entrez ID 91782
Gene name Charged multivesicular body protein 7
Gene symbol CHMP7
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8p21.3
miRNA miRNA information provided by mirtarbase database.
299
miRTarBase ID miRNA Experiments Reference
MIRT030249 hsa-miR-26b-5p Microarray 19088304
MIRT046411 hsa-miR-15b-5p CLASH 23622248
MIRT042391 hsa-miR-484 CLASH 23622248
MIRT037936 hsa-miR-505-5p CLASH 23622248
MIRT890872 hsa-miR-1179 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0000421 Component Autophagosome membrane IDA 17984323
GO:0000776 Component Kinetochore IDA 26040712
GO:0000776 Component Kinetochore IEA
GO:0000785 Component Chromatin IDA 28242692
GO:0000815 Component ESCRT III complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611130 28439 ENSG00000147457
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUX9
Protein name Charged multivesicular body protein 7 (Chromatin-modifying protein 7)
Protein function ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope (NE) during late anaphase (PubMed:26040712). Together with SPAST, the ESCRT-III complex promotes NE sealing and mitotic spindle disassembly during late anap
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03357 Snf7 241 443 Snf7 Family
Sequence
MWSPEREAEAPAGGDPAGLLPPEWEEDEERMSFLFSAFKRSREVNSTDWDSKMGFWAPLV
LSHSRRQGVVRLRLRDLQEAFQRKGSVPLGLATVLQDLLRRGELQRESDFMASVDSSWIS
WGVGVFLLKPLKWTLSNMLGDNKVPAEEVLVAVELLKEKAEEVYRLYQNSPLSSHPVVAL
SELSTLCANSCPDERTFYLVLLQLQKEKRVTVLEQNGEKIVKFARGPRAKVSPVNDVDVG
VYQLMQSEQLLSRKVESLSQEAERCKEEARRACRAGKKQLALRSLKAKQRTEKRIEALHA
KLDTVQGILDRIYASQTDQMVFNAYQAGVGALKLSMKDVTVEKAESLVDQIQELCDTQDE
VSQTLAGGVTNGLDFDSEELEKELDILLQDTTKEPLDLPDNPRNRHFTNSVPNPRISDAE
LEAELEKLSLSEGGLVPSSKSPK
RQLEPTLKPL
Sequence length 453
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Virion - Hepatitis viruses
Endocytosis
Necroptosis
  Budding and maturation of HIV virion
Macroautophagy
Endosomal Sorting Complex Required For Transport (ESCRT)
HCMV Late Events
Sealing of the nuclear envelope (NE) by ESCRT-III
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 39486415 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34321318 Associate
★☆☆☆☆
Found in Text Mining only
Liver Neoplasms Liver neoplasm Pubtator 34281622, 34321318 Associate
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Chronic obstructive pulmonary disease Pubtator 37194062 Associate
★☆☆☆☆
Found in Text Mining only