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Gene

SEC63

SEC63 protein translocation regulator

Summary

Cytogenetic location
6q21
Coordinates
Chromosome 6: 107,867,756–107,958,208 (GRCh38)
Exons
21 exons across 90.5 kb
Protein
760 amino acids
Inheritance
Autosomal dominant
Also known as
SEC63L, PRO2507, ERdj2, DNAJC23
MANE Select transcript
ENST00000369002.9NM_007214.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Polycystic Liver Disease (1 and 2)

    • Polycystic Liver Disease 2Autosomal dominant

      Any polycystic liver disease in which the cause of the disease is a mutation in the SEC63 gene.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate 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 SEC63 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 SEC63 sits. SEC63 and 7 genes near it on chromosome 6, from 107,412,982 to 108,412,981.Chromosome 66q21p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27107.6 Mb107.8 Mb108 Mb108.2 Mb108.4 MbPDSS2: 107,152,556–107,459,582, reverse strandPDSS2SOBP: 107,489,897–107,661,306, forward strandSOBPSCML4: 107,701,722–107,824,328, reverse strandSCML4SEC63: 107,867,756–107,958,208, reverse strandSEC63OSTM1: 108,029,245–108,165,854, reverse strandOSTM1NR2E1: 108,166,017–108,188,805, forward strandNR2E1SNX3: 108,210,873–108,261,255, reverse strandSNX3AFG1L: 108,294,892–108,526,796, forward strandAFG1LDiagram of SEC63: 21 exons on the reverse strand of chromosome 6Exon 19: 2 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 16: 4 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 21: 107,867,756–107,871,847, 4,092 basesExon 20: 107,872,808–107,872,912, 105 basesExon 19: 107,876,564–107,876,662, 99 basesExon 18: 107,881,149–107,881,250, 102 basesExon 17: 107,882,988–107,883,146, 159 basesExon 16: 107,893,482–107,893,655, 174 basesExon 15: 107,893,838–107,893,897, 60 basesExon 14: 107,897,649–107,897,731, 83 basesExon 13: 107,901,370–107,901,517, 148 basesExon 12: 107,902,844–107,902,998, 155 basesExon 11: 107,904,629–107,904,721, 93 basesExon 10: 107,906,448–107,906,580, 133 basesExon 9: 107,906,683–107,906,777, 95 basesExon 8: 107,908,927–107,909,035, 109 basesExon 7: 107,911,346–107,911,396, 51 basesExon 6: 107,912,716–107,912,774, 59 basesExon 5: 107,913,366–107,913,427, 62 basesExon 4: 107,921,797–107,921,909, 113 basesExon 3: 107,924,818–107,924,932, 115 basesExon 2: 107,929,415–107,929,514, 100 basesExon 1: 107,957,886–107,958,208, 323 bases21201816141210864215′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 6.4 kb of the gene's 90.5 kb; 2,283 of those bases code for the protein.

How a genome test reads SEC63

33

positions in SEC63 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 90.5 kb of SEC63, introns included, not only the 6.4 kb of exons.

Traits linked to SEC63

The Human Phenotype Ontology lists these as features of the rare conditions SEC63 can cause. Each trait's page lists the other genes linked to it.

External links

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.). SEC63 gene: SEC63 protein translocation regulator. Retrieved 17 October 2026, from https://dantelabs.com/genes/sec63

Vancouver

Dante Labs. SEC63 gene: SEC63 protein translocation regulator [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sec63

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