CC2D1A Gene - Coiled-Coil and C2 Domain Containing 1A
A key regulator of NF-κB signaling and neuronal development, associated with intellectual disability and cancer.
Gene Information Card
| Symbol | CC2D1A |
|---|---|
| Full Name | Coiled-Coil and C2 Domain Containing 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 54862 ncbi.nlm.nih.gov/gene/54862 |
| Ensembl ID | ENSG00000132024 |
| UniProt ID | Q6P1N0 |
| OMIM ID | 610055 |
| HGNC ID | 24237 |
| Aliases | Freud-1, Lgd1, Aki1, DKFZp686B1812 |
Description
CC2D1A (Coiled-Coil and C2 Domain Containing 1A) is a protein-coding gene that encodes a transcriptional repressor involved in the regulation of NF-κB signaling and neuronal development. The protein contains a C2 domain and multiple coiled-coil regions, and it functions as a scaffold in the IKK complex to modulate NF-κB activation. Mutations in CC2D1A are associated with autosomal recessive intellectual disability (MRT3) and have been implicated in cancer progression. The gene is also known as Freud-1 (5-HT1A receptor-related factor) and Lgd1 (lethal giant discs homolog 1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 3 (MRT3) | Loss-of-function mutations disrupt NF-κB signaling and neuronal gene expression, leading to cognitive impairment. | OMIM #610055; ClinVar |
| Breast cancer | Altered CC2D1A expression affects NF-κB activity, potentially promoting tumorigenesis. | COSMIC; PubMed studies |
| Colorectal cancer | CC2D1A overexpression linked to poor prognosis via NF-κB pathway activation. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.3 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 10.2 | Moderate expression |
| MCF7 | 7.5 | Low expression |
| HCT116 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.1489G>A (p.Gly497Arg) | Missense | <0.01% | Unknown; associated with intellectual disability |
| c.1742_1743del (p.Glu581Valfs*2) | Frameshift | <0.01% | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg366*, p.Glu581Valfs*2) lead to truncated or absent protein, impairing NF-κB regulation and neuronal development.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CC2D1A.
Dominant Negative (DN)
No dominant-negative mutations currently described for CC2D1A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-κB signaling pathway (Reactome: R-HSA-168164)
• IKK complex recruitment (Reactome: R-HSA-168138)
Protein Summary
The CC2D1A protein (UniProt Q6P1N0) is a 951-amino acid polypeptide containing a C2 domain and multiple coiled-coil regions. It localizes to the cytoplasm and nucleus, acting as a scaffold that recruits IKKα/β to the IKK complex, thereby positively regulating NF-κB signaling. In neurons, CC2D1A represses the 5-HT1A receptor gene (HTR1A) and is essential for normal brain development. The protein is also implicated in cell proliferation and survival, with dysregulation observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CC2D1A Knockout HEK293 Cell Line | EDJ-KQ12030 | Human | 54862 | Details Get a Quote |
| CC2D1A Knockout A-549 Cell Line | EDJ-KQ40640 | Human | 54862 | Details Get a Quote |
| CC2D1A Knockout HCT 116 Cell Line | EDJ-KQ40641 | Human | 54862 | Details Get a Quote |
| CC2D1A Knockout HeLa Cell Line | EDJ-KQ40642 | Human | 54862 | Details Get a Quote |
