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Gene

ROM1

retinal outer segment membrane protein 1

Summary

Cytogenetic location
11q12.3
Coordinates
Chromosome 11: 62,613,257–62,615,116 (GRCh38)
Exons
3 exons across 1.9 kb
Protein
351 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
TSPAN23, ROM
MANE Select transcript
ENST00000278833.4NM_000327.4
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 Macular Dystrophies

    • PRPH2-Related RetinopathyAutosomal dominant

      A retinal condition caused by changes in PRPH2, which can cause pattern dystrophy, adult vitelliform dystrophy or wider retinal degeneration, even within one family.

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

      Regular eye examinations help detect complications and support planning.

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

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

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

Broader groupings

  • Retinitis Pigmentosa

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 1 GenCC submitter rates it definitive or strong

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.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ROM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 11, with a bracket where ROM1 sits. ROM1 and 45 genes near it on chromosome 11, from 62,114,187 to 63,114,186.Chromosome 1111q12.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2562.2 Mb62.4 Mb62.6 Mb62.8 Mb63 MbINCENP: 62,123,985–62,155,474, forward strandINCENPSCGB1D1: 62,190,216–62,193,539, forward strandSCGB1D1SCGB2A1: 62,208,666–62,213,943, forward strandSCGB2A1SCGB1D2: 62,242,210–62,244,812, forward strandSCGB1D2SCGB2A2: 62,270,158–62,273,160, forward strandSCGB2A2SCGB1D4: 62,296,281–62,299,075, reverse strandSCGB1D4ASRGL1: 62,337,347–62,393,415, forward strandASRGL1SCGB1A1: 62,405,103–62,423,195, forward strandSCGB1A1AHNAK: 62,433,532–62,556,235, reverse strandAHNAKEEF1G: 62,559,593–62,574,086, reverse strand: 62,559,603–62,591,531, reverse strandTUT1: 62,575,045–62,591,637, reverse strandMTA2: 62,593,214–62,601,927, reverse strandMTA2EML3: 62,602,216–62,612,978, reverse strandEML3ROM1: 62,613,257–62,615,116, forward strandROM1B3GAT3: 62,614,993–62,622,180, reverse strandB3GAT3GANAB: 62,624,821–62,646,726, reverse strandINTS5: 62,646,848–62,653,316, reverse strandINTS5: 62,649,694–62,665,178, reverse strandC11orf98: 62,662,815–62,665,251, reverse strandLBHD1: 62,662,817–62,672,284, reverse strandCSKMT: 62,665,309–62,668,496, forward strandUQCC3: 62,670,273–62,674,001, forward strandUBXN1: 62,676,498–62,679,332, reverse strandLRRN4CL: 62,686,406–62,689,609, reverse strandBSCL2: 62,689,289–62,709,861, reverse strandBSCL2HNRNPUL2-BSCL2: 62,690,275–62,727,384, reverse strandGNG3: 62,706,400–62,712,083, forward strandGNG3HNRNPUL2: 62,712,630–62,727,637, reverse strandHNRNPUL2: 62,726,885–62,727,265, reverse strandTTC9C: 62,727,687–62,740,293, forward strandZBTB3: 62,737,172–62,758,835, reverse strandPOLR2G: 62,761,453–62,766,715, forward strandPOLR2GTAF6L: 62,771,307–62,787,342, forward strandTAF6LTMEM223: 62,771,629–62,792,022, reverse strandTMEM179B: 62,787,375–62,792,166, forward strandNXF1: 62,792,123–62,806,302, reverse strandSTX5: 62,806,860–62,832,076, reverse strandSTX5TEX54: 62,832,321–62,832,841, reverse strandTEX54WDR74: 62,832,342–62,842,228, reverse strandWDR74RNU2-2: 62,841,619–62,841,809, reverse strandSLC3A2: 62,855,970–62,888,910, forward strandSLC3A2CHRM1: 62,907,828–62,921,877, reverse strandCHRM1SLC22A6: 62,936,385–62,984,973, reverse strandSLC22A6SLC22A8: 62,989,154–63,017,561, reverse strandSLC22A8SLC22A24: 63,077,406–63,144,221, reverse strandSLC22A24Diagram of ROM1: 3 exons on the forward strand of chromosome 11Exon 1: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 62,613,257–62,613,871, 615 basesExon 2: 62,614,258–62,614,504, 247 basesExon 3: 62,614,621–62,615,116, 496 bases1235′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 1.4 kb of the gene's 1.9 kb; 1,056 of those bases code for the protein.

How a genome test reads ROM1

4

positions in ROM1 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 1.9 kb of ROM1, introns included, not only the 1.4 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.). ROM1 gene: retinal outer segment membrane protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rom1

Vancouver

Dante Labs. ROM1 gene: retinal outer segment membrane protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rom1

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