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Gene

EXPH5

exophilin 5

Summary

Cytogenetic location
11q22.3
Coordinates
Chromosome 11: 108,505,435–108,593,768 (GRCh38)
Exons
6 exons across 88.3 kb
Protein
1,989 amino acids
Also known as
SLAC2-B
MANE Select transcript
ENST00000265843.9NM_015065.3
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

  • Epidermolysis Bullosa

    • Inherited epidermolysis bullosa

      All inherited forms of skin fragility with blistering, including simplex, junctional and dystrophic epidermolysis bullosa and Kindler syndrome.

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

      Recessive dystrophic forms need regular skin cancer surveillance, and gene-based wound therapy is now available for dystrophic EB.

How EXPH5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where EXPH5 sits. EXPH5 and 7 genes near it on chromosome 11, from 108,049,602 to 109,049,601.Chromosome 1111q22.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q25108.2 Mb108.4 Mb108.6 Mb108.8 Mb109 MbCUL5: 108,008,821–108,107,781, forward strandCUL5ACAT1: 108,116,695–108,148,957, forward strandACAT1NPAT: 108,155,267–108,222,659, reverse strandNPATATM: 108,222,788–108,369,102, forward strandATMC11orf65: 108,308,519–108,467,536, reverse strandC11orf65POGLUT3: 108,472,106–108,498,603, reverse strandPOGLUT3EXPH5: 108,505,435–108,593,768, reverse strandEXPH5DDX10: 108,665,053–108,940,999, forward strandDDX10Diagram of EXPH5: 6 exons on the reverse strand of chromosome 11Exon 6: 7 known disease-causing sitesExon 3: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 6: 108,505,435–108,514,875, 9,441 basesExon 5: 108,518,235–108,518,373, 139 basesExon 4: 108,528,136–108,528,184, 49 basesExon 3: 108,539,024–108,539,186, 163 basesExon 2: 108,541,652–108,541,812, 161 basesExon 1: 108,593,418–108,593,768, 351 bases6543215′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 10.3 kb of the gene's 88.3 kb; 5,970 of those bases code for the protein.

How a genome test reads EXPH5

9

positions in EXPH5 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 88.3 kb of EXPH5, introns included, not only the 10.3 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.). EXPH5 gene: exophilin 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/exph5

Vancouver

Dante Labs. EXPH5 gene: exophilin 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/exph5

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