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CC2D1A
coiled-coil and C2 domain containing 1A
The CC2D1A gene provides instructions for making the coiled-coil and C2 domain containing 1A protein, which is involved in brain development and cognition. The CC2D1A gene is responsible for producing a protein crucial for various cellular processes, particularly those related to the central nervous system.
CC2D1A is located on the short (p) arm of chromosome 19, at band 19p13.12. Arm ratio per GRCh38 - banding schematic.
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Overview
The CC2D1A gene encodes the coiled-coil and C2 domain containing 1A protein. This protein is widely expressed, with significant presence in the brain, where it plays a role in neuronal development and synaptic function. Research indicates its involvement in processes vital for learning and memory.
What the gene does
The CC2D1A protein is believed to be involved in several cellular pathways, particularly within neurons. Its structure, including specific domains, suggests roles in protein-protein interactions and signal transduction. These functions are critical for proper brain development and the establishment of neural circuits. While the precise mechanisms are still under investigation, its contribution to cognitive functions and neurodevelopment is a key area of study.
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Chromosome location
The CC2D1A gene is situated on chromosome 19 at position 19p13.12. This specific genomic location provides a map for understanding its context within the human genome. The gene's position is consistent across individuals.
Protein structure
The CC2D1A protein is 951 amino acids long and features several distinct domains. It includes multiple disordered regions located at amino acids 80-139, 185-266, 306-346, 437-491, and 818-841. Additionally, it contains two coiled-coil domains, found at amino acids 346-392 and 484-517. A significant C2 domain is present between amino acids 637-771.
Key variants
Variants within the CC2D1A gene can encompass a range of changes, including substitutions, deletions, or duplications of genetic material. These alterations may affect the protein's structure or function. The impact of a specific variant on health can differ significantly depending on its nature and location within the gene.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1061dup | p.Arg355fs | Pathogenic/Likely pathogenic | ★★☆☆ | Intellectual disability, autosomal recessive 3 |
c.179_180insCA | p.Glu60fs | Pathogenic/Likely pathogenic | ★★☆☆ | Intellectual disability, autosomal recessive 3 |
c.2693del | p.Gly898fs | Pathogenic/Likely pathogenic | ★★☆☆ | Intellectual disability, autosomal recessive 3 |
g.(?_14017255)_(14041208_?)del | - | Pathogenic | ★☆☆☆ | not provided |
g.(?_14028863)_(14031755_?)del | - | Pathogenic | ★☆☆☆ | not provided |
g.(?_14034126)_(14034644_?)del | - | Pathogenic | ★☆☆☆ | not provided |
c.1212del | p.Val405fs | Pathogenic | ★☆☆☆ | not provided |
c.2012del | p.Pro671fs | Pathogenic | ★☆☆☆ | not provided |
c.316dup | p.Glu106fs | Pathogenic | ★☆☆☆ | not provided |
c.621C>G | p.Tyr207Ter | Pathogenic | ★☆☆☆ | not provided |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variants in the CC2D1A gene have been associated with neurodevelopmental conditions. Most notably, such variants are linked to intellectual disability, affecting cognitive function and development. The spectrum of manifestations can vary among individuals carrying CC2D1A variants.
No disease links recorded for this gene in our reference set.
UK clinical status
The CC2D1A gene is recognised within the UK's Genomics England PanelApp, indicating its clinical relevance in the National Health Service (NHS). It is listed as 'green' for both the DDG2P (a gene curation system for developmental disorders) and Intellectual disability (R29) panels, signifying strong evidence for its association with these conditions.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the CC2D1A gene do?
The CC2D1A gene codes for a protein called coiled-coil and C2 domain containing 1A. This protein is essential for proper brain development and function, particularly in processes related to cognition and neural signalling.
What conditions are associated with variants in CC2D1A?
Variants in the CC2D1A gene have been primarily associated with neurodevelopmental conditions, most notably intellectual disability, which can affect cognitive abilities and overall development.
Is CC2D1A considered important in UK clinical genomics?
Yes, CC2D1A is listed as 'green' on the UK's Genomics England PanelApp for DDG2P (developmental disorders) and Intellectual disability (R29) panels. This indicates strong evidence supporting its clinical relevance in these areas.