Skip to content
Use your HSA or FSA funds

Gene

COPA

coat protein complex I subunit alpha

Summary

Cytogenetic location
1q23.2
Coordinates
Chromosome 1: 160,288,594–160,343,250 (GRCh38)
Exons
33 exons across 54.7 kb
Protein
1,224 amino acids
Inheritance
Autosomal dominant
Also known as
HEP-COP, alpha-COP
MANE Select transcript
ENST00000241704.8NM_004371.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Rare Monogenic Autoinflammatory Diseases

    • PTPN2-related autoinflammation and autoimmunityAutosomal dominant

      Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.

      • 1 GenCC submitter rates it definitive or strong

  • Type I Interferonopathies

    • COPA syndromeAutosomal dominant

      Lung disease with bleeding or interstitial changes, arthritis and kidney inflammation caused by variants in COPA.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How COPA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where COPA sits. COPA and 28 genes near it on chromosome 1, from 159,815,922 to 160,815,921.Chromosome 11q23.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44160 Mb160.2 Mb160.4 Mb160.6 Mb160.8 MbFCRL6: 159,800,503–159,816,262, forward strandFCRL6SLAMF8: 159,826,682–159,837,492, forward strandSLAMF8: 159,834,474–159,873,053, reverse strandVSIG8: 159,854,316–159,862,657, reverse strandVSIG8CFAP45: 159,872,364–159,900,165, reverse strandCFAP45TAGLN2: 159,918,106–159,925,546, reverse strandTAGLN2IGSF9: 159,927,039–159,949,468, reverse strandIGSF9SLAMF9: 159,951,492–159,954,237, reverse strandSLAMF9KCNJ10: 159,998,651–160,070,483, reverse strandKCNJ10PIGM: 160,024,953–160,031,990, reverse strandPIGMKCNJ9: 160,081,501–160,094,277, forward strandKCNJ9IGSF8: 160,091,340–160,101,109, reverse strandIGSF8ATP1A2: 160,115,755–160,143,605, forward strandATP1A2ATP1A4: 160,151,586–160,187,593, forward strandATP1A4CASQ1: 160,190,212–160,201,886, forward strandCASQ1PEA15: 160,205,328–160,220,335, forward strandPEA15DCAF8: 160,214,840–160,263,388, reverse strandDCAF8: 160,216,800–160,285,130, reverse strandPEX19: 160,266,229–160,286,348, reverse strandPEX19COPA: 160,288,594–160,343,250, reverse strandCOPANCSTN: 160,343,294–160,358,957, forward strandNCSTNNHLH1: 160,367,071–160,372,846, forward strandNHLH1VANGL2: 160,400,528–160,428,678, forward strandVANGL2SLAMF6: 160,484,817–160,523,273, reverse strandSLAMF6CD84: 160,541,095–160,579,544, reverse strandCD84SLAMF1: 160,608,100–160,647,056, reverse strandSLAMF1CD48: 160,678,746–160,711,831, reverse strandCD48SLAMF7: 160,739,057–160,754,821, forward strandSLAMF7LY9: 160,796,071–160,828,601, forward strandLY9Diagram of COPA: 33 exons on the reverse strand of chromosome 1Exon 18: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 33: 160,288,594–160,290,216, 1,623 basesExon 32: 160,290,492–160,290,686, 195 basesExon 31: 160,291,335–160,291,496, 162 basesExon 30: 160,291,819–160,291,929, 111 basesExon 29: 160,292,012–160,292,198, 187 basesExon 28: 160,292,484–160,292,620, 137 basesExon 27: 160,293,166–160,293,234, 69 basesExon 26: 160,293,386–160,293,463, 78 basesExon 25: 160,294,484–160,294,593, 110 basesExon 24: 160,294,768–160,294,857, 90 basesExon 23: 160,295,736–160,295,859, 124 basesExon 22: 160,296,061–160,296,149, 89 basesExon 21: 160,297,343–160,297,438, 96 basesExon 20: 160,297,556–160,297,745, 190 basesExon 19: 160,298,845–160,298,991, 147 basesExon 18: 160,299,102–160,299,264, 163 basesExon 17: 160,305,433–160,305,571, 139 basesExon 16: 160,305,688–160,305,773, 86 basesExon 15: 160,306,354–160,306,493, 140 basesExon 14: 160,307,163–160,307,245, 83 basesExon 13: 160,309,101–160,309,176, 76 basesExon 12: 160,310,192–160,310,258, 67 basesExon 11: 160,311,868–160,312,018, 151 basesExon 10: 160,313,085–160,313,167, 83 basesExon 9: 160,313,990–160,314,125, 136 basesExon 8: 160,323,431–160,323,530, 100 basesExon 7: 160,325,543–160,325,652, 110 basesExon 6: 160,332,448–160,332,557, 110 basesExon 5: 160,333,603–160,333,679, 77 basesExon 4: 160,335,242–160,335,322, 81 basesExon 3: 160,339,909–160,339,982, 74 basesExon 2: 160,340,181–160,340,294, 114 basesExon 1: 160,343,131–160,343,250, 120 bases333025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.3 kb of the gene's 54.7 kb; 3,675 of those bases code for the protein.

How a genome test reads COPA

6

positions in COPA where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 54.7 kb of COPA, introns included, not only the 5.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). COPA gene: coat protein complex I subunit alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/copa

Vancouver

Dante Labs. COPA gene: coat protein complex I subunit alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/copa

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test