Gene Gene information from NCBI Gene database.
Entrez ID 92421
Gene name Charged multivesicular body protein 4C
Gene symbol CHMP4C
Synonyms (NCBI Gene)
SNF7-3Shax3VPS32C
Chromosome 8
Chromosome location 8q21.13
Summary CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor p
miRNA miRNA information provided by mirtarbase database.
96
miRTarBase ID miRNA Experiments Reference
MIRT038687 hsa-miR-30c-2-3p CLASH 23622248
MIRT890792 hsa-miR-1343 CLIP-seq
MIRT890793 hsa-miR-150 CLIP-seq
MIRT890794 hsa-miR-1976 CLIP-seq
MIRT890795 hsa-miR-24 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
73
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:0000815 Component ESCRT III complex IBA
GO:0000815 Component ESCRT III complex NAS 36107470
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610899 30599 ENSG00000164695
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96CF2
Protein name Charged multivesicular body protein 4c (Chromatin-modifying protein 4c) (CHMP4c) (SNF7 homolog associated with Alix 3) (SNF7-3) (hSnf7-3) (Vacuolar protein sorting-associated protein 32-3) (Vps32-3) (hVps32-3)
Protein function Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (IL
PDB 3C3R , 5MK3 , 5V3R , 5WA1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03357 Snf7 24 193 Snf7 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, spleen and kidney. {ECO:0000269|PubMed:14583093, ECO:0000269|PubMed:14678797}.
Sequence
Sequence length 233
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  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.).
5
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
HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA 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
Carcinoma of lung Lung carcinoma BEFREE 26712741
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 23535730 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 23535730
★☆☆☆☆
Found in Text Mining only
Epithelial ovarian cancer Ovarian cancer GWASCAT_DG 25581431
★☆☆☆☆
Found in Text Mining only
Liver Neoplasms Liver neoplasm Pubtator 35562678 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 26712741 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 26712741
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 23535730
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer CTD_human_DG 23535730, 31043753
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer GWASDB_DG 23535730
★☆☆☆☆
Found in Text Mining only