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Gene

COL8A2

collagen type VIII alpha 2 chain

Summary

Cytogenetic location
1p34.3
Coordinates
Chromosome 1: 36,095,239–36,125,222 (GRCh38)
Exons
4 exons across 30 kb
Protein
703 amino acids
Also known as
PPCD, FECD1, PPCD2
Previous symbols
FECD
MANE Select transcript
ENST00000397799.2NM_005202.4
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 report relevant to this gene

  • Hereditary Corneal Dystrophies

    • Corneal Dystrophy

      A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.

How COL8A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 1, with a bracket where COL8A2 sits. COL8A2 and 18 genes near it on chromosome 1, from 35,610,231 to 36,610,230.Chromosome 11p34.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4435.8 Mb36 Mb36.2 Mb36.4 Mb36.6 MbPSMB2: 35,599,541–35,641,568, reverse strandPSMB2C1orf216: 35,713,875–35,718,894, reverse strandC1orf216CLSPN: 35,720,202–35,770,002, reverse strandCLSPNAGO4: 35,807,976–35,857,890, forward strandAGO4AGO1: 35,869,808–35,930,532, forward strandAGO1AGO3: 35,930,696–36,072,500, forward strandAGO3TEKT2: 36,084,080–36,088,278, forward strandTEKT2ADPRS: 36,088,873–36,095,461, forward strandADPRSCOL8A2: 36,095,239–36,125,222, reverse strandCOL8A2TRAPPC3: 36,136,570–36,156,053, reverse strandTRAPPC3MAP7D1: 36,155,541–36,180,849, forward strandMAP7D1THRAP3: 36,224,392–36,305,376, forward strandTHRAP3MNMIP1: 36,306,314–36,329,340, forward strandMNMIP1EVA1B: 36,322,030–36,324,154, reverse strandEVA1BSTK40: 36,339,620–36,385,932, reverse strandSTK40LSM10: 36,388,814–36,397,945, reverse strandLSM10OSCP1: 36,415,273–36,450,491, reverse strandOSCP1MRPS15: 36,455,718–36,464,418, reverse strandMRPS15CSF3R: 36,465,669–36,483,322, reverse strandCSF3RDiagram of COL8A2: 4 exons on the reverse strand of chromosome 1Exon 4: 36,095,239–36,099,487, 4,249 basesExon 3: 36,100,050–36,100,258, 209 basesExon 2: 36,115,708–36,115,752, 45 basesExon 1: 36,125,057–36,125,222, 166 bases43215′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 4.7 kb of the gene's 30 kb; 2,112 of those bases code for the protein.

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.
  • 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.). COL8A2 gene: collagen type VIII alpha 2 chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/col8a2

Vancouver

Dante Labs. COL8A2 gene: collagen type VIII alpha 2 chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/col8a2

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