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Gene

CD2AP

CD2 associated protein

Summary

Cytogenetic location
6p12.3
Coordinates
Chromosome 6: 47,477,789–47,627,263 (GRCh38)
Exons
18 exons across 149.5 kb
Protein
639 amino acids
Also known as
CMS
MANE Select transcript
ENST00000359314.5NM_012120.3
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated report relevant to this gene

  • Focal Segmental Glomerulosclerosis

    • FSGS Susceptibility (CD2AP)

      Variants in CD2AP increase susceptibility to focal segmental glomerulosclerosis, with incomplete penetrance.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing can prompt periodic urine protein and kidney function checks.

How CD2AP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where CD2AP sits. CD2AP and 4 genes near it on chromosome 6, from 47,052,526 to 48,052,525.Chromosome 66p12.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2747.2 Mb47.4 Mb47.6 Mb47.8 Mb48 MbTNFRSF21: 47,231,531–47,310,006, reverse strandTNFRSF21CD2AP: 47,477,789–47,627,263, forward strandCD2APADGRF4: 47,685,864–47,722,021, forward strandADGRF4OPN5: 47,781,982–47,832,780, forward strandOPN5PTCHD4: 47,856,673–48,111,212, reverse strandPTCHD4Diagram of CD2AP: 18 exons on the forward strand of chromosome 6Exon 2: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 1: 47,477,789–47,478,248, 460 basesExon 2: 47,503,280–47,503,440, 161 basesExon 3: 47,533,602–47,533,755, 154 basesExon 4: 47,544,606–47,544,706, 101 basesExon 5: 47,554,646–47,554,766, 121 basesExon 6: 47,574,064–47,574,251, 188 basesExon 7: 47,576,524–47,576,602, 79 basesExon 8: 47,577,009–47,577,103, 95 basesExon 9: 47,579,385–47,579,489, 105 basesExon 10: 47,580,864–47,580,900, 37 basesExon 11: 47,582,003–47,582,065, 63 basesExon 12: 47,595,861–47,596,026, 166 basesExon 13: 47,599,301–47,599,443, 143 basesExon 14: 47,606,165–47,606,277, 113 basesExon 15: 47,607,927–47,608,028, 102 basesExon 16: 47,609,123–47,609,304, 182 basesExon 17: 47,612,473–47,612,536, 64 basesExon 18: 47,624,186–47,627,263, 3,078 bases151015185′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 5.4 kb of the gene's 149.5 kb; 1,920 of those bases code for the protein.

How a genome test reads CD2AP

14

positions in CD2AP 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 149.5 kb of CD2AP, introns included, not only the 5.4 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.). CD2AP gene: CD2 associated protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/cd2ap

Vancouver

Dante Labs. CD2AP gene: CD2 associated protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cd2ap

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