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Gene

FRMPD4

FERM and PDZ domain containing 4

Summary

Cytogenetic location
Xp22.2
Coordinates
Chromosome X: 12,138,473–12,724,523 (GRCh38)
Exons
17 exons across 586.1 kb
Protein
1,762 amino acids
Also known as
Preso1, Preso, KIAA0316
Previous symbols
PDZK10, PDZD10
MANE Select transcript
ENST00000675598.1NM_001368397.1
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

  • Epilepsy (Full Panel)

    • X-Linked Complex Neurodevelopmental Disorder

      A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong

Broader groupings

How FRMPD4 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 FRMPD4 sits. FRMPD4 and 7 genes near it on chromosome X, from 11,552,422 to 13,310,574.Chromosome XXp22.2p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2812 Mb12.5 Mb13 MbARHGAP6: 11,117,651–11,665,931, reverse strandARHGAP6MSL3: 11,757,788–11,776,782, forward strandMSL3FRMPD4: 12,138,473–12,724,523, forward strandFRMPD4PRPS2: 12,791,355–12,825,558, forward strandPRPS2TLR7: 12,866,994–12,890,361, forward strandTLR7TLR8: 12,906,620–12,923,169, forward strandTLR8TMSB4X: 12,975,003–12,977,228, forward strandTMSB4XFAM9C: 13,035,617–13,044,682, reverse strandFAM9CDiagram of FRMPD4: 17 exons on the forward strand of chromosome XExon 6: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 3 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 5 known disease-causing sitesExon 1: 12,138,473–12,139,012, 540 basesExon 2: 12,498,680–12,498,796, 117 basesExon 3: 12,609,721–12,609,881, 161 basesExon 4: 12,614,779–12,614,881, 103 basesExon 5: 12,674,863–12,674,908, 46 basesExon 6: 12,683,483–12,683,587, 105 basesExon 7: 12,686,097–12,686,204, 108 basesExon 8: 12,690,195–12,690,326, 132 basesExon 9: 12,694,335–12,694,454, 120 basesExon 10: 12,701,874–12,702,010, 137 basesExon 11: 12,704,359–12,704,485, 127 basesExon 12: 12,706,826–12,706,915, 90 basesExon 13: 12,707,469–12,707,651, 183 basesExon 14: 12,710,399–12,710,537, 139 basesExon 15: 12,716,069–12,717,133, 1,065 basesExon 16: 12,717,501–12,718,790, 1,290 basesExon 17: 12,720,534–12,724,523, 3,990 bases110175′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 8.5 kb of the gene's 586.1 kb; 5,289 of those bases code for the protein.

How a genome test reads FRMPD4

15

positions in FRMPD4 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 586.1 kb of FRMPD4, introns included, not only the 8.5 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.). FRMPD4 gene: FERM and PDZ domain containing 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/frmpd4

Vancouver

Dante Labs. FRMPD4 gene: FERM and PDZ domain containing 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/frmpd4

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