Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6094
Gene name Gene Name - the full gene name approved by the HGNC.
Retinal outer segment membrane protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ROM1
Synonyms (NCBI Gene) Gene synonyms aliases
ROM, ROSP1, RP7, TSPAN23
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP7
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022287 hsa-miR-124-3p Microarray 18668037
MIRT028880 hsa-miR-26b-5p Microarray 19088304
MIRT1315103 hsa-miR-1236 CLIP-seq
MIRT1315104 hsa-miR-1470 CLIP-seq
MIRT1315105 hsa-miR-4469 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0007155 Process Cell adhesion IEA
GO:0007601 Process Visual perception TAS 1610568
GO:0010468 Process Regulation of gene expression IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
180721 10254 ENSG00000149489
Protein
UniProt ID Q03395
Protein name Rod outer segment membrane protein 1 (ROSP1) (Tetraspanin-23) (Tspan-23)
Protein function Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk di
PDB 7ZW1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00335 Tetraspanin 17 290 Tetraspanin family Family
Tissue specificity TISSUE SPECIFICITY: Retina photoreceptors (at protein level) (PubMed:1610568, PubMed:8504299). In rim region of ROS disks (PubMed:1610568). {ECO:0000269|PubMed:1610568, ECO:0000269|PubMed:8504299}.
Sequence
Sequence length 351
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Hearing loss Conductive hearing loss, Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa 7 GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Blindness Associate 34440333
Carcinogenesis Associate 33680068
Disease Associate 30630813
Lung Neoplasms Inhibit 16756685
Lung Neoplasms Associate 33680068
Macular Degeneration Associate 20335603, 30630813
Neoplasms Associate 33680068
Retinitis Pigmentosa Associate 16799052, 19096719, 34440333, 9007328, 9187681
Stargardt Disease Associate 35353811
Vitelliform Macular Dystrophy Associate 8279475