ROM1 (retinal outer segment membrane protein 1)

2014-11-01  

Identity

HGNC
LOCATION
11q12.3
LOCUSID
ALIAS
ROM,ROSP1,RP7,TSPAN23

Other Information

Locus ID:

NCBI: 6094
MIM: 180721
HGNC: 10254
Ensembl: ENSG00000149489

Variants:

dbSNP: 6094
ClinVar: 6094
TCGA: ENSG00000149489
COSMIC: ROM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149489ENST00000278833Q03395
ENSG00000149489ENST00000525801E9PKF5
ENSG00000149489ENST00000525947E9PMR7
ENSG00000149489ENST00000534093E9PS24

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203356032010ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.24
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
280530512017Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.11
285395812017Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.2

Citation

Dessen P

ROM1 (retinal outer segment membrane protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72764/rom1