Gene: CHMP4C

Alternate names for this Gene: SNF7-3|Shax3|VPS32C

Gene 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 proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK000049.1, SRR5189655.54306.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000297265.5/ ENSP00000297265.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.13

Description of this Gene: charged multivesicular body protein 4C

Type of Gene: protein-coding

rs11782652 in CHMP4C gene and Epithelial ovarian cancer PMID 25581431 2015 Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

rs11782652 in CHMP4C gene and Malignant neoplasm of ovary PMID 23535730 2013 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.

rs11782652 in CHMP4C gene and ovarian neoplasm PMID 23535730 2013 GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.