CCDC51: Coiled-Coil Domain Containing 51
A mitochondrial protein with potential roles in cellular signaling and disease
Gene Information Card
| Symbol | CCDC51 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 51 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 79714 ncbi.nlm.nih.gov/gene/79714 |
| Ensembl ID | ENSG00000163635 |
| UniProt ID | Q96ER9 |
| OMIM ID | 617448 |
| HGNC ID | 26722 |
| Aliases | FLJ21908, MGC13170 |
Description
CCDC51 encodes a protein containing a coiled-coil domain, localized to mitochondria. Its exact function is not fully characterized, but it may be involved in mitochondrial dynamics, cellular signaling, or protein-protein interactions. Expression data suggest broad tissue distribution with highest levels in testis and thyroid.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 8.9 | Low |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Highest in available cell lines |
| HeLa | 12.3 | Moderate |
| K562 | 9.8 | Low |
| A549 | 7.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported
Gain of Function (GOF)
No confirmed gain-of-function variants reported
Dominant Negative (DN)
No evidence for dominant-negative effects
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • protein binding (GO:0005515) |
| • identical protein binding (GO:0042802) |
Protein Summary
CCDC51 is a 244-amino acid protein with a coiled-coil domain, predicted to localize to mitochondria. It may participate in mitochondrial organization or signaling, but functional studies are limited. UniProt lists it as a probable mitochondrial protein with no known enzymatic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC51 Knockout HEK293 Cell Line | EDJ-KQ12756 | Human | 79714 | Details Get a Quote |
| CCDC51 Knockout A-549 Cell Line | EDJ-KQ41870 | Human | 79714 | Details Get a Quote |
| CCDC51 Knockout HCT 116 Cell Line | EDJ-KQ41871 | Human | 79714 | Details Get a Quote |
| CCDC51 Knockout HeLa Cell Line | EDJ-KQ41872 | Human | 79714 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
