Skip to content
Use your HSA or FSA funds

Gene

RHBDF2

rhomboid 5 homolog 2

Summary

Cytogenetic location
17q25.1
Coordinates
Chromosome 17: 76,470,896–76,501,423 (GRCh38)
Exons
19 exons across 30.5 kb
Protein
827 amino acids
Inheritance
Autosomal dominant
Also known as
FLJ22341, RHBDL5, TOCG, iRhom2
Previous symbols
RHBDL6, TOC
MANE Select transcript
ENST00000675367.1NM_001005498.4
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.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate 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.

  • Tylosis with Oesophageal Cancer

    • Tylosis with oesophageal cancer (RHBDF2)Autosomal dominant

      Thickening of the palms and soles from childhood, with a strongly increased risk of oesophageal squamous cell carcinoma in adulthood.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Guidelines advise regular endoscopic surveillance from early adulthood, which can find cancers at a treatable stage; avoiding smoking and alcohol is also advised.

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

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

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How RHBDF2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where RHBDF2 sits. RHBDF2 and 28 genes near it on chromosome 17, from 75,986,160 to 76,986,159.Chromosome 1717q25.1p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.376 Mb76.2 Mb76.4 Mb76.6 Mb76.8 MbTEN1: 75,979,212–76,000,587, forward strandTEN1TEN1-CDK3: 75,979,231–76,005,999, forward strandTEN1-CDK3CDK3: 76,000,644–76,005,999, forward strandCDK3EVPL: 76,004,379–76,027,465, reverse strandEVPLSRP68: 76,037,989–76,072,718, reverse strandSRP68ZACN: 76,071,961–76,083,666, forward strandZACNGALR2: 76,074,773–76,077,537, forward strandGALR2EXOC7: 76,080,995–76,121,576, reverse strandEXOC7FOXJ1: 76,136,333–76,141,256, reverse strandFOXJ1RNF157: 76,142,460–76,240,662, reverse strandRNF157UBALD2: 76,265,197–76,271,298, forward strandUBALD2QRICH2: 76,274,049–76,308,282, reverse strandQRICH2PRPSAP1: 76,309,478–76,384,521, reverse strandPRPSAP1SPHK1: 76,376,584–76,387,860, forward strandSPHK1UBE2O: 76,389,456–76,453,226, reverse strandUBE2OAANAT: 76,452,749–76,470,122, forward strandAANATRHBDF2: 76,470,896–76,501,423, reverse strandRHBDF2CYGB: 76,527,356–76,551,175, reverse strandCYGBPRCD: 76,527,586–76,553,578, forward strandPRCD: 76,563,710–76,569,724, reverse strandST6GALNAC2: 76,564,424–76,586,956, reverse strandST6GALNAC2ST6GALNAC1: 76,624,228–76,643,907, reverse strandST6GALNAC1MXRA7: 76,672,551–76,711,091, reverse strandMXRA7JMJD6: 76,712,830–76,726,784, reverse strandJMJD6METTL23: 76,725,981–76,735,416, forward strandMETTL23: 76,732,978–76,738,522, forward strandSRSF2: 76,734,115–76,737,919, reverse strandSRSF2MFSD11: 76,735,865–76,789,874, forward strandMGAT5B: 76,868,134–76,950,393, forward strandMGAT5BDiagram of RHBDF2: 19 exons on the reverse strand of chromosome 17Exon 6: 1 known disease-causing siteExon 19: 76,470,896–76,472,052, 1,157 basesExon 18: 76,472,686–76,472,839, 154 basesExon 17: 76,473,005–76,473,105, 101 basesExon 16: 76,473,252–76,473,327, 76 basesExon 15: 76,473,648–76,473,742, 95 basesExon 14: 76,473,839–76,473,902, 64 basesExon 13: 76,474,033–76,474,142, 110 basesExon 12: 76,474,373–76,474,534, 162 basesExon 11: 76,474,730–76,474,804, 75 basesExon 10: 76,475,030–76,475,141, 112 basesExon 9: 76,476,830–76,477,024, 195 basesExon 8: 76,477,180–76,477,298, 119 basesExon 7: 76,477,657–76,477,785, 129 basesExon 6: 76,478,806–76,479,009, 204 basesExon 5: 76,479,082–76,479,277, 196 basesExon 4: 76,479,733–76,479,854, 122 basesExon 3: 76,481,375–76,481,545, 171 basesExon 2: 76,487,712–76,487,909, 198 basesExon 1: 76,501,353–76,501,423, 71 bases191510515′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 3.5 kb of the gene's 30.5 kb; 2,484 of those bases code for the protein.

How a genome test reads RHBDF2

1

position in RHBDF2 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 30.5 kb of RHBDF2, introns included, not only the 3.5 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.). RHBDF2 gene: rhomboid 5 homolog 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/rhbdf2

Vancouver

Dante Labs. RHBDF2 gene: rhomboid 5 homolog 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rhbdf2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test