CCDC93
Coiled-Coil Domain Containing 93
Gene Information Card
| Symbol | CCDC93 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 93 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.1 |
| NCBI Gene ID | 54520 ncbi.nlm.nih.gov/gene/54520 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q6P1N0 |
| OMIM ID | 616973 |
| HGNC ID | 25556 |
| Aliases | FLJ20366, MGC13170 |
Description
CCDC93 (Coiled-Coil Domain Containing 93) is a protein-coding gene located on chromosome 2q14.1. The encoded protein contains a coiled-coil domain and is involved in intracellular trafficking, particularly in endosomal recycling and autophagy. It is a component of the CCC (COMMD/CCDC22/CCDC93) complex, which regulates endosomal sorting and copper homeostasis. CCDC93 is ubiquitously expressed and has been implicated in various cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of CCC complex function impairs endosomal trafficking, affecting neuronal development | OMIM #616973 |
| Autosomal recessive intellectual disability 57 | Homozygous mutations in CCDC93 cause syndromic intellectual disability with microcephaly | ClinVar, OMIM |
| Cancer (pan-cancer) | Altered expression may influence tumor progression via endosomal signaling dysregulation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Testis | 15.3 | Medium |
| Heart | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| K562 | 6.3 | Leukemia cells |
| HepG2 | 7.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Impaired CCC complex assembly |
| c.200_201del (p.Glu67fs) | Frameshift | Rare | Loss of function, associated with intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Homozygous loss-of-function mutations (e.g., frameshift, start-loss) cause autosomal recessive intellectual disability 57.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endosomal transport | • protein transport |
| • autophagy | • copper ion homeostasis |
| • intracellular protein transport |
Pathways
• Endosomal recycling
• CCC complex pathway
• Autophagy
Protein Summary
CCDC93 encodes a 746-amino acid protein with a coiled-coil domain. It is a core component of the CCC complex, which bridges COMMD proteins and the WASH complex to regulate endosomal sorting and recycling. The protein is involved in copper homeostasis and autophagy. Mutations in CCDC93 lead to syndromic intellectual disability with microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC93 Knockout HEK293 Cell Line | EDJ-KQ11450 | Human | 54520 | Details Get a Quote |
| CCDC93 Knockout A-549 Cell Line | EDJ-KQ39730 | Human | 54520 | Details Get a Quote |
| CCDC93 Knockout HCT 116 Cell Line | EDJ-KQ39731 | Human | 54520 | Details Get a Quote |
| CCDC93 Knockout HeLa Cell Line | EDJ-KQ39732 | Human | 54520 | Details Get a Quote |
