COPA Chromosome 1
Coat protein complex I subunit alpha
Upload your DNA to see your personal genotypes for variants in COPA.
What This Gene Does
In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|Receptor ligands|Coat protein complex I"
Locus Type
gene with protein product
Location
1q23.2
Ensembl
ENSG00000122218
Associated Conditions (5)
Autoimmune interstitial lung disease-arthritis syndrome
COPA-related disorder
Inborn genetic diseases
Familial cancer of breast
See cases
Key Variants
RS1214197748
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder, Inborn genetic diseases
Health Risk
RS1307001526
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS1314595703
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS138387946
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS138441444
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS138625189
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS139398871
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Familial cancer of breast
Health Risk
RS141211632
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS143115096
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS147312908
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS149398610
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS187547429
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1214197748 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder, Inborn genetic diseases |
| RS1307001526 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS1314595703 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS138387946 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS138441444 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS138625189 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS139398871 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Familial cancer of breast |
| RS141211632 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS143115096 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder, Autoimmune interstitial lung disease-arthritis syndrome |
| RS147312908 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS149398610 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS187547429 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS199634303 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder, Inborn genetic diseases |
| RS199945391 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS201089543 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS201804449 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS368351562 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS368690601 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS369330981 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS372660936 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS373521245 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS530428285 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases |
| RS539596065 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS540161688 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS552778606 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS745391240 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS750319602 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS750545966 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS750764548 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS751116790 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS755234198 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS758422851 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases |
| RS760093872 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS761517421 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS761919408 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS763192047 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS764620128 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS765186480 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS765391058 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS767991810 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS773125884 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS773636602 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS775283020 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS777845758 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS778952692 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS779383710 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome |
| RS794727994 | Health Risk | Conflicting classifications of pathogenicity | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS2101847465 | Health Risk | Likely pathogenic | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS2525368687 | Health Risk | Likely pathogenic | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS1557868211 | Health Risk | Pathogenic | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |