PROM1 Chromosome 4
Prominin 1
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What This Gene Does
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"CD molecules|Prominin family"
Locus Type
gene with protein product
Location
4p15.32
Ensembl
ENSG00000007062
Associated Conditions (21)
Retinal dystrophy
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy
PROM1-related disorder
Autosomal recessive retinitis pigmentosa
Familial cancer of breast
Inborn genetic diseases
Malignant tumor of urinary bladder
Retinal disorder
Optic atrophy
Stargardt disease
Cone-rod dystrophy 2
Leber congenital amaurosis
Leber congenital amaurosis 1
Isolated macular dystrophy
Usher syndrome
+1 more conditions
Key Variants
RS1033920857
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 41, Cone-rod dystrophy 12
Health Risk
RS113895168
Conflicting classifications of pathogenicity
Retinal macular dystrophy type 2, Retinitis pigmentosa, Stargardt disease 4
Health Risk
RS1196489060
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa, Cone-rod dystrophy 12
Health Risk
RS1236769724
Conflicting classifications of pathogenicity
Health Risk
RS140027620
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal macular dystrophy type 2, Stargardt disease 4
Health Risk
RS140362696
Conflicting classifications of pathogenicity
Retinal macular dystrophy type 2, Stargardt disease 4, Cone-rod dystrophy 12
Health Risk
RS140682455
Conflicting classifications of pathogenicity
Retinal macular dystrophy type 2, Cone-rod dystrophy 12, Retinitis pigmentosa
Health Risk
RS140872693
Conflicting classifications of pathogenicity
Stargardt disease 4, Retinal macular dystrophy type 2, Retinitis pigmentosa
Health Risk
RS142245630
Conflicting classifications of pathogenicity
Health Risk
RS143470288
Conflicting classifications of pathogenicity
Cone-rod dystrophy 12, Stargardt disease 4, Retinitis pigmentosa
Health Risk
RS144688616
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146434364
Conflicting classifications of pathogenicity
Cone-rod dystrophy 12, Retinal macular dystrophy type 2, Stargardt disease 4
Health Risk
All Variants (202)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1033920857 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 41, Cone-rod dystrophy 12 |
| RS113895168 | Health Risk | Conflicting classifications of pathogenicity | Retinal macular dystrophy type 2, Retinitis pigmentosa, Stargardt disease 4 |
| RS1196489060 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa, Cone-rod dystrophy 12 |
| RS1236769724 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140027620 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal macular dystrophy type 2, Stargardt disease 4 |
| RS140362696 | Health Risk | Conflicting classifications of pathogenicity | Retinal macular dystrophy type 2, Stargardt disease 4, Cone-rod dystrophy 12 |
| RS140682455 | Health Risk | Conflicting classifications of pathogenicity | Retinal macular dystrophy type 2, Cone-rod dystrophy 12, Retinitis pigmentosa |
| RS140872693 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Retinal macular dystrophy type 2, Retinitis pigmentosa |
| RS142245630 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143470288 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 12, Stargardt disease 4, Retinitis pigmentosa |
| RS144688616 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146434364 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 12, Retinal macular dystrophy type 2, Stargardt disease 4 |
| RS147174580 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 12, Retinal macular dystrophy type 2 |
| RS148242593 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS149028760 | Health Risk | Conflicting classifications of pathogenicity | Retinal macular dystrophy type 2, Stargardt disease 4, Cone-rod dystrophy 12 |
| RS149845694 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Retinal macular dystrophy type 2, Retinitis pigmentosa |
| RS181261277 | Health Risk | Conflicting classifications of pathogenicity | Retinal macular dystrophy type 2, Retinitis pigmentosa, Cone-rod dystrophy 12 |
| RS182096110 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 12, Retinal macular dystrophy type 2 |
| RS185335345 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS187116049 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Cone-rod dystrophy 12, Retinitis pigmentosa |
| RS189953160 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal macular dystrophy type 2, Stargardt disease 4 |
| RS192338518 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal macular dystrophy type 2, Stargardt disease 4 |
| RS199556426 | Health Risk | Conflicting classifications of pathogenicity | Retinal macular dystrophy type 2, Cone-rod dystrophy 12, Stargardt disease 4 |
| RS199674847 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 12, Retinitis pigmentosa, Retinal macular dystrophy type 2 |
| RS199727800 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Retinitis pigmentosa, Retinal macular dystrophy type 2 |
| RS200033458 | Health Risk | Conflicting classifications of pathogenicity | Retinal macular dystrophy type 2, Stargardt disease 4, Retinitis pigmentosa |
| RS200290535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200520976 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 12, Retinal macular dystrophy type 2, Stargardt disease 4 |
| RS200545555 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200620291 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 12, Retinal macular dystrophy type 2, Retinitis pigmentosa |
| RS200710798 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 12, Retinal macular dystrophy type 2 |
| RS201027172 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201559220 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201644238 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal macular dystrophy type 2, Retinitis pigmentosa |
| RS201662148 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 12, Stargardt disease 4 |
| RS201692179 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201701647 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Cone-rod dystrophy 12, Retinal macular dystrophy type 2 |
| RS201748228 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Retinal macular dystrophy type 2, Retinitis pigmentosa |
| RS201870277 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal macular dystrophy type 2, Stargardt disease 4 |
| RS201910962 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Retinal macular dystrophy type 2, Retinitis pigmentosa |
| RS202029748 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal macular dystrophy type 2, Cone-rod dystrophy 12 |
| RS202041422 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Retinitis pigmentosa, Retinal macular dystrophy type 2 |
| RS369815021 | Health Risk | Conflicting classifications of pathogenicity | Stargardt disease 4, Retinal macular dystrophy type 2, Retinitis pigmentosa |
| RS370183490 | Health Risk | Conflicting classifications of pathogenicity | Retinal macular dystrophy type 2, Cone-rod dystrophy 12, Retinitis pigmentosa |
| RS370251231 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370302107 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 12, Stargardt disease 4 |
| RS371975235 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372262346 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Stargardt disease 4, Retinal macular dystrophy type 2 |
| RS372599685 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 12, Retinitis pigmentosa, Stargardt disease 4 |
| RS374394451 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Cone-rod dystrophy 12, Retinal macular dystrophy type 2 |