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Gene

INPP5E

inositol polyphosphate-5-phosphatase E

Summary

Cytogenetic location
9q34.3
Coordinates
Chromosome 9: 136,428,619–136,439,845 (GRCh38)
Exons
10 exons across 11.2 kb
Protein
644 amino acids
Also known as
PPI5PIV, CORS1, pharbin
Previous symbols
JBTS1
MANE Select transcript
ENST00000371712.4NM_019892.6
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

  • Joubert Syndrome And Related Disorders

    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

How INPP5E is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where INPP5E sits. INPP5E and 32 genes near it on chromosome 9, from 135,934,232 to 136,934,231.Chromosome 99q34.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3136 Mb136.2 Mb136.4 Mb136.6 Mb136.8 MbUBAC1: 135,924,661–135,961,400, reverse strandUBAC1NACC2: 136,006,537–136,095,327, reverse strandNACC2TMEM250: 136,113,067–136,118,946, reverse strandTMEM250LHX3: 136,196,250–136,205,128, reverse strandLHX3QSOX2: 136,206,332–136,245,831, reverse strandQSOX2CCDC187: 136,249,973–136,306,901, reverse strandCCDC187GPSM1: 136,327,425–136,359,608, forward strandDNLZ: 136,359,480–136,363,773, reverse strand: 136,361,904–136,373,644, reverse strandCARD9: 136,363,956–136,373,683, reverse strandCARD9SNAPC4: 136,375,567–136,400,226, reverse strandSNAPC4ENTR1: 136,401,922–136,410,621, reverse strandENTR1PMPCA: 136,410,630–136,428,006, forward strandPMPCAINPP5E: 136,428,619–136,439,845, reverse strandINPP5ESEC16A: 136,440,096–136,483,843, reverse strandSEC16ANOTCH1: 136,494,433–136,546,048, reverse strandNOTCH1EGFL7: 136,658,284–136,672,684, forward strandEGFL7AGPAT2: 136,673,142–136,687,483, reverse strandAGPAT2DIPK1B: 136,712,302–136,724,742, forward strandDIPK1BLCN10: 136,738,167–136,743,356, reverse strandLCN10: 136,738,167–136,748,453, reverse strandLCN6: 136,744,017–136,748,531, reverse strandLCN6LCN8: 136,754,386–136,758,543, reverse strandLCN15: 136,759,634–136,766,255, reverse strandTMEM141: 136,791,303–136,793,317, forward strandTMEM141: 136,791,379–136,800,595, forward strandCCDC183: 136,796,338–136,807,741, forward strandRABL6: 136,807,848–136,841,187, forward strandRABL6AJM1: 136,842,478–136,848,801, forward strandAJM1PHPT1: 136,847,994–136,851,043, forward strandPHPT1MAMDC4: 136,850,943–136,860,802, forward strandEDF1: 136,862,113–136,866,343, reverse strandTRAF2: 136,881,903–136,929,221, forward strandTRAF2Diagram of INPP5E: 10 exons on the reverse strand of chromosome 9Exon 10: 9 known disease-causing sitesExon 9: 16 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 7: 9 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 1: 14 known disease-causing sitesExon 10: 136,428,619–136,429,807, 1,189 basesExon 9: 136,430,277–136,430,413, 137 basesExon 8: 136,431,002–136,431,117, 116 basesExon 7: 136,431,824–136,431,985, 162 basesExon 6: 136,432,479–136,432,586, 108 basesExon 5: 136,432,956–136,433,075, 120 basesExon 4: 136,433,155–136,433,279, 125 basesExon 3: 136,434,037–136,434,134, 98 basesExon 2: 136,434,740–136,434,863, 124 basesExon 1: 136,438,608–136,439,845, 1,238 bases109876543215′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 3.4 kb of the gene's 11.2 kb; 1,935 of those bases code for the protein.

How a genome test reads INPP5E

83

positions in INPP5E 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 11.2 kb of INPP5E, introns included, not only the 3.4 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.). INPP5E gene: inositol polyphosphate-5-phosphatase E. Retrieved 17 October 2026, from https://dantelabs.com/genes/inpp5e

Vancouver

Dante Labs. INPP5E gene: inositol polyphosphate-5-phosphatase E [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/inpp5e

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