C12orf57 Gene - Chromosome 12 Open Reading Frame 57
Genetic and Functional Insights into C12orf57: A Gene Associated with Neurodevelopmental Disorders
Gene Information Card
| Symbol | C12orf57 |
|---|---|
| Full Name | chromosome 12 open reading frame 57 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 113146 ncbi.nlm.nih.gov/gene/113146 |
| Ensembl ID | ENSG00000111331 |
| UniProt ID | Q99622 |
| OMIM ID | 616140 |
| HGNC ID | 26169 |
| Aliases | C12orf57, bA127L20.1, MGC13057 |
Description
C12orf57 is a protein-coding gene located on chromosome 12 at position p13.31. It encodes a small protein of unknown function, but mutations in this gene have been linked to Temtamy syndrome, a rare autosomal recessive disorder characterized by intellectual disability, speech impairment, and facial dysmorphism. The gene is expressed in various tissues, with notable levels in the brain and testis. Research suggests a role in neurodevelopment, though the exact molecular function remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Temtamy syndrome | Loss-of-function mutations (e.g., frameshift, nonsense) lead to reduced or absent protein function, likely disrupting neurodevelopmental processes. | ClinVar and OMIM report pathogenic variants in C12orf57 associated with Temtamy syndrome (OMIM #616140). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Kidney | 5.1 | Low |
| Liver | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.3 | Neuronal cell line; moderate expression |
| HeLa (cervical carcinoma) | 4.5 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start codon loss | Rare | Loss of function; likely pathogenic |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; pathogenic |
| c.424_425del (p.Leu142Valfs*3) | Frameshift | Rare | Loss of function; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Pathogenic variants in C12orf57 are predominantly loss-of-function, leading to haploinsufficiency or truncated protein, which is associated with Temtamy syndrome.
Gain of Function (GOF)
No evidence of gain-of-function mutations for C12orf57.
Dominant Negative (DN)
No evidence of dominant-negative effects; the disorder is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: protein binding (GO:0005515) | • Biological process: nervous system development (GO:0007399) |
| • Cellular component: cytoplasm (GO:0005737) |
Pathways
• No specific pathways are curated for C12orf57 in major databases; it may be involved in neurodevelopmental signaling cascades.
Protein Summary
The C12orf57 protein is a small, uncharacterized protein of 142 amino acids. It is predicted to be cytoplasmic and may interact with other proteins involved in neuronal development. Structural predictions suggest no known domains, and its function remains to be fully elucidated. Studies indicate that its absence leads to neurodevelopmental defects, highlighting its importance in brain function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C12orf57 Knockout HEK293 Cell Line | EDJ-KQ1415 | Human | 113246 | Details Get a Quote |
| C12orf57 Knockout A-549 Cell Line | EDJ-KQ22251 | Human | 113246 | Details Get a Quote |
| C12orf57 Knockout HCT 116 Cell Line | EDJ-KQ22253 | Human | 113246 | Details Get a Quote |
| C12orf57 Knockout HeLa Cell Line | EDJ-KQ22254 | Human | 113246 | Details Get a Quote |
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