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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ROM1
retinal outer segment membrane protein 1
Chromosome 11 · 11q12.3
NCBI Gene: 6094Ensembl: ENSG00000149489.9HGNC: HGNC:10254UniProt: Q03395
30PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membranevisual perceptionphotoreceptor outer segment membraneretinitis pigmentosa 7, digenicretinitis pigmentosaRetinal dystrophyautosomal dominant retinitis pigmentosa
✦AI Summary

ROM1 (retinal outer segment membrane protein 1) is a photoreceptor-specific integral membrane protein located at the rims of rod outer segment (ROS) disks 1. ROM1 functions as a structural component essential for ROS morphogenesis and disk organization, working cooperatively with its homologue PRPH2 (peripherin 2) to maintain ROS curved disk structure and diameter 1. The two proteins share 47% sequence identity in their central hydrophilic domain and likely form non-covalent associations in vivo 1. ROM1 is located on chromosome 11 2. ROM1 is primarily associated with digenic retinitis pigmentosa (RP), where mutations in both ROM1 and PRPH2 together cause disease, though ROM1 mutations alone have not been definitively linked to RP 3. More significantly, ROM1 acts as a disease modifier in PRPH2-associated retinal degeneration, modulating phenotypic severity 45. ROM1 variants can trans-modify ABCA4/Stargardt disease, with rare variants enriched in patients (1.3% vs 0.3% in controls) 6. Functionally, ROM1 influences PRPH2 complex formation, ER retention, and protein stability, with mutation-specific effects on disease presentation ranging from amelioration to exacerbation 45. ROM1 was recently identified as a potential cross-tissue molecular target associated with lung function traits 7.

Sources cited
1
ROM1 location at disk rims, role in ROS morphogenesis and disk maintenance, structural similarity to PRPH2, and 47% sequence identity in central hydrophilic domain
PMID: 8504299
2
ROM1 chromosomal localization to human 11q13
PMID: 1415249
3
ROM1 causes digenic RP only in combination with RDS/PRPH2 mutations, not ROM1 mutations alone
PMID: 9331261
4
ROM1 modifies PRPH2 Y141C phenotype by influencing complex formation, ER retention, and disease presentation conversion from pattern dystrophy to retinitis pigmentosa
PMID: 28053051
5
ROM1 acts as phenotypic modifier in PRPH2-associated retinal disease with mutation-specific variable effects on function and structure
PMID: 32716032
6
Rare ROM1 variants enriched in ABCA4/Stargardt disease patients (1.3% vs 0.3% controls) with trans-modifying role
PMID: 35353811
7
ROM1 identified as potential cross-tissue molecular target associated with lung function traits
PMID: 40128644
Disease Associationsⓘ21
retinitis pigmentosa 7, digenicOpen Targets
0.51Moderate
retinitis pigmentosaOpen Targets
0.44Moderate
Retinal dystrophyOpen Targets
0.34Weak
autosomal dominant retinitis pigmentosaOpen Targets
0.15Weak
optic atrophyOpen Targets
0.15Weak
Macular dystrophyOpen Targets
0.11Weak
irritable bowel syndromeOpen Targets
0.10Weak
X-linked retinal dysplasiaOpen Targets
0.10Suggestive
age-related macular degenerationOpen Targets
0.09Suggestive
Stargardt diseaseOpen Targets
0.08Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.08Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.08Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.07Suggestive
Familial drusenOpen Targets
0.07Suggestive
Cone rod dystrophyOpen Targets
0.07Suggestive
age related macular degeneration 11Open Targets
0.07Suggestive
age related macular degeneration 2Open Targets
0.07Suggestive
age related macular degeneration 4Open Targets
0.07Suggestive
Retinitis pigmentosa 7UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IMPG1Shared pathway100%NYXShared pathway100%IMPG2Shared pathway100%RAXShared pathway100%AIPL1Shared pathway100%PRR4Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
64%
Liver
31%
Lung
26%
Heart
17%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
ROM1IMPG1NYXIMPG2RAXAIPL1PRR4
PROTEIN STRUCTURE
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PDB7ZW1 · 3.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.48–1.00]
RankingsWhere ROM1 stands among ~20K protein-coding genes
  • #12,027of 20,598
    Most Researched30
  • #9,715of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedROM1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 20301590
1.00
2
Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation.
PMID: 8504299
Hum Mol Genet · 1993
0.90
3
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.
PMID: 8279475
Am J Hum Genet · 1994
0.80
4
Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM.
PMID: 1415249
Am J Hum Genet · 1992
0.70
5
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
PMID: 35353811
PLoS Genet · 2022
0.60