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Gene

SERPINB8

serpin family B member 8

Summary

Cytogenetic location
18q22.1
Coordinates
Chromosome 18: 63,970,081–63,989,374 (GRCh38)
Exons
7 exons across 19.3 kb
Protein
374 amino acids
Inheritance
Autosomal recessive
Also known as
CAP2
Previous symbols
PI8
MANE Select transcript
ENST00000397985.7NM_002640.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Inherited Ichthyoses

    • Peeling skin syndromeAutosomal recessive

      A group of conditions in which the outer layer of skin peels off easily, either over the whole body or mainly on the hands and feet.

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

      Avoiding friction, heat and moisture reduces peeling.

    • Autosomal recessive congenital ichthyosisAutosomal recessive

      A group of recessive ichthyoses, including harlequin ichthyosis and lamellar ichthyosis, usually present at birth, often with a collodion membrane.

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

      Early diagnosis guides neonatal care, emollient and keratolytic regimens, and heat-intolerance precautions.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How SERPINB8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where SERPINB8 sits. SERPINB8 and 11 genes near it on chromosome 18, from 63,479,728 to 64,479,727.Chromosome 1818q22.1p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2363.6 Mb63.8 Mb64 Mb64.2 Mb64.4 MbSERPINB5: 63,476,817–63,505,085, forward strandSERPINB5SERPINB12: 63,542,369–63,569,329, forward strandSERPINB12SERPINB13: 63,586,654–63,604,639, forward strandSERPINB13SERPINB4: 63,637,259–63,644,263, reverse strandSERPINB4SERPINB11: 63,647,579–63,726,432, forward strandSERPINB11SERPINB3: 63,652,584–63,661,893, reverse strandSERPINB3SERPINB7: 63,752,935–63,805,376, forward strandSERPINB7SERPINB2: 63,871,692–63,903,888, forward strandSERPINB2: 63,897,174–63,917,490, forward strandSERPINB10: 63,907,958–63,936,111, forward strandSERPINB10HMSD: 63,949,277–63,981,774, forward strandHMSDSERPINB8: 63,970,081–63,989,374, forward strandSERPINB8Diagram of SERPINB8: 7 exons on the forward strand of chromosome 18Exon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 63,970,081–63,970,170, 90 basesExon 2: 63,978,299–63,978,476, 178 basesExon 3: 63,979,801–63,979,938, 138 basesExon 4: 63,981,721–63,981,838, 118 basesExon 5: 63,983,579–63,983,721, 143 basesExon 6: 63,985,093–63,985,245, 153 basesExon 7: 63,986,874–63,989,374, 2,501 bases12345675′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 3.3 kb of the gene's 19.3 kb; 1,125 of those bases code for the protein.

How a genome test reads SERPINB8

4

positions in SERPINB8 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 19.3 kb of SERPINB8, introns included, not only the 3.3 kb of exons.

Genes linked to the same conditions

Traits linked to SERPINB8

The Human Phenotype Ontology lists these as features of the rare conditions SERPINB8 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.). SERPINB8 gene: serpin family B member 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/serpinb8

Vancouver

Dante Labs. SERPINB8 gene: serpin family B member 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/serpinb8

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