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Gene

FAM20A

FAM20A golgi associated secretory pathway pseudokinase

Summary

Cytogenetic location
17q24.2
Coordinates
Chromosome 17: 68,535,116–68,601,367 (GRCh38)
Exons
11 exons across 66.3 kb
Protein
541 amino acids
Inheritance
Autosomal dominant
Also known as
DKFZp434F2322
MANE Select transcript
ENST00000592554.2NM_017565.4
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

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 FAM20A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where FAM20A sits. FAM20A and 7 genes near it on chromosome 17, from 68,068,242 to 69,068,241.Chromosome 1717q24.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.368.2 Mb68.4 Mb68.6 Mb68.8 Mb69 MbAMZ2: 68,205,431–68,258,828, forward strandAMZ2ARSG: 68,259,170–68,422,731, forward strandARSGSLC16A6: 68,267,026–68,291,267, reverse strandSLC16A6WIPI1: 68,420,948–68,457,563, reverse strandWIPI1PRKAR1A: 68,511,740–68,551,319, forward strandPRKAR1AFAM20A: 68,535,116–68,601,367, reverse strandFAM20AABCA8: 68,866,052–68,955,470, reverse strandABCA8ABCA9: 68,974,488–69,061,087, reverse strandABCA9Diagram of FAM20A: 11 exons on the reverse strand of chromosome 17Exon 11: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 11: 68,535,116–68,537,741, 2,626 basesExon 10: 68,539,337–68,539,396, 60 basesExon 9: 68,539,885–68,539,966, 82 basesExon 8: 68,540,849–68,540,958, 110 basesExon 7: 68,541,985–68,542,165, 181 basesExon 6: 68,542,694–68,542,809, 116 basesExon 5: 68,543,629–68,543,721, 93 basesExon 4: 68,551,873–68,551,951, 79 basesExon 3: 68,554,777–68,554,827, 51 basesExon 2: 68,555,559–68,555,743, 185 basesExon 1: 68,600,263–68,601,367, 1,105 bases1110864215′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 66.3 kb; 1,626 of those bases code for the protein.

How a genome test reads FAM20A

35

positions in FAM20A 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 66.3 kb of FAM20A, introns included, not only the 4.7 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.). FAM20A gene: FAM20A golgi associated secretory pathway pseudokinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/fam20a

Vancouver

Dante Labs. FAM20A gene: FAM20A golgi associated secretory pathway pseudokinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fam20a

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