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Gene

MBTPS2

membrane bound transcription factor peptidase, site 2

Summary

Cytogenetic location
Xp22.12
Coordinates
Chromosome X: 21,839,617–21,885,423 (GRCh38)
Exons
11 exons across 45.8 kb
Protein
519 amino acids
Also known as
S2P
Previous symbols
KFSD
MANE Select transcript
ENST00000379484.10NM_015884.4
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 reports relevant to this gene

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

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

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

How MBTPS2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where MBTPS2 sits. MBTPS2 and 7 genes near it on chromosome X, from 21,362,520 to 22,362,519.Chromosome XXp22.12p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2821.4 Mb21.6 Mb21.8 Mb22 Mb22.2 MbCNKSR2: 21,372,801–21,654,701, forward strandCNKSR2KLHL34: 21,654,690–21,658,330, reverse strandKLHL34SMPX: 21,704,788–21,758,254, reverse strandSMPXMBTPS2: 21,839,617–21,885,423, forward strandMBTPS2YY2: 21,855,987–21,858,740, forward strandYY2SMS: 21,940,557–21,994,837, forward strandSMSPHEX: 22,032,293–22,494,713, forward strandPHEXCBLL2: 22,272,913–22,274,461, forward strandCBLL2Diagram of MBTPS2: 11 exons on the forward strand of chromosome XExon 7: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 1: 21,839,617–21,839,809, 193 basesExon 2: 21,843,170–21,843,318, 149 basesExon 3: 21,845,171–21,845,384, 214 basesExon 4: 21,851,509–21,851,612, 104 basesExon 5: 21,853,376–21,853,503, 128 basesExon 6: 21,868,467–21,868,585, 119 basesExon 7: 21,869,498–21,869,678, 181 basesExon 8: 21,878,042–21,878,136, 95 basesExon 9: 21,878,497–21,878,692, 196 basesExon 10: 21,880,897–21,880,972, 76 basesExon 11: 21,882,433–21,885,423, 2,991 bases1246810115′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 4.4 kb of the gene's 45.8 kb; 1,560 of those bases code for the protein.

How a genome test reads MBTPS2

4

positions in MBTPS2 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 45.8 kb of MBTPS2, introns included, not only the 4.4 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.). MBTPS2 gene: membrane bound transcription factor peptidase, site 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/mbtps2

Vancouver

Dante Labs. MBTPS2 gene: membrane bound transcription factor peptidase, site 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mbtps2

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