Details for: RHO

Gene ID: 6010

Symbol: RHO

Ensembl ID: ENSG00000163914

Description: rhodopsin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 11.6855
    Cell Significance Index: 736.5000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 2.4646
    Cell Significance Index: 42.1300
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.7674
    Cell Significance Index: 6.7600
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.5626
    Cell Significance Index: 6.8200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.5377
    Cell Significance Index: 13.0300
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.4989
    Cell Significance Index: 5.7200
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.4874
    Cell Significance Index: 3.7500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.3701
    Cell Significance Index: 4.5900
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: 0.2430
    Cell Significance Index: 3.0200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.2340
    Cell Significance Index: 2.7900
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.2196
    Cell Significance Index: 2.7500
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.1805
    Cell Significance Index: 1.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1002
    Cell Significance Index: 5.2600
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.0993
    Cell Significance Index: 1.2400
  • Cell Name: invaginating midget bipolar cell (CL4033034)
    Fold Change: 0.0782
    Cell Significance Index: 0.9600
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0618
    Cell Significance Index: 0.5100
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.0383
    Cell Significance Index: 0.4800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0017
    Cell Significance Index: -3.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0021
    Cell Significance Index: -3.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0030
    Cell Significance Index: -5.6400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0050
    Cell Significance Index: -0.5900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0070
    Cell Significance Index: -3.1800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0081
    Cell Significance Index: -5.1400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0081
    Cell Significance Index: -6.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0097
    Cell Significance Index: -5.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0098
    Cell Significance Index: -1.6700
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0124
    Cell Significance Index: -0.1400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0130
    Cell Significance Index: -0.1000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0158
    Cell Significance Index: -5.6600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0163
    Cell Significance Index: -0.8200
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0174
    Cell Significance Index: -0.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0179
    Cell Significance Index: -3.5900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0218
    Cell Significance Index: -0.8900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0271
    Cell Significance Index: -0.3700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0287
    Cell Significance Index: -1.7600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0296
    Cell Significance Index: -5.8700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0360
    Cell Significance Index: -5.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0392
    Cell Significance Index: -5.3900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0430
    Cell Significance Index: -2.6400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0431
    Cell Significance Index: -2.0100
  • Cell Name: diffuse bipolar 2 cell (CL4033028)
    Fold Change: -0.0440
    Cell Significance Index: -0.5400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0498
    Cell Significance Index: -0.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0520
    Cell Significance Index: -5.9600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0549
    Cell Significance Index: -2.4300
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: -0.0557
    Cell Significance Index: -0.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0621
    Cell Significance Index: -1.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0635
    Cell Significance Index: -2.4100
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0720
    Cell Significance Index: -0.8400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0746
    Cell Significance Index: -0.9300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0796
    Cell Significance Index: -5.3500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0852
    Cell Significance Index: -2.0800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0941
    Cell Significance Index: -5.2800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0961
    Cell Significance Index: -2.2200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1018
    Cell Significance Index: -3.2200
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1032
    Cell Significance Index: -2.6300
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.1045
    Cell Significance Index: -1.2100
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1049
    Cell Significance Index: -1.1500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1068
    Cell Significance Index: -1.5300
  • Cell Name: diffuse bipolar 4 cell (CL4033031)
    Fold Change: -0.1076
    Cell Significance Index: -1.3100
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.1096
    Cell Significance Index: -1.5100
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1097
    Cell Significance Index: -1.0400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1101
    Cell Significance Index: -1.3900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1120
    Cell Significance Index: -3.2100
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1144
    Cell Significance Index: -1.4800
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.1179
    Cell Significance Index: -1.9100
  • Cell Name: diffuse bipolar 1 cell (CL4033027)
    Fold Change: -0.1230
    Cell Significance Index: -1.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1277
    Cell Significance Index: -6.0000
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.1301
    Cell Significance Index: -1.5600
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1310
    Cell Significance Index: -1.9100
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: -0.1342
    Cell Significance Index: -1.4800
  • Cell Name: pulmonary alveolar type 1 cell (CL0002062)
    Fold Change: -0.1348
    Cell Significance Index: -1.4800
  • Cell Name: H1 horizontal cell (CL0004217)
    Fold Change: -0.1420
    Cell Significance Index: -1.7900
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1454
    Cell Significance Index: -2.2500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1529
    Cell Significance Index: -1.9600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1667
    Cell Significance Index: -5.8400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1733
    Cell Significance Index: -3.7100
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1737
    Cell Significance Index: -1.7000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1833
    Cell Significance Index: -6.0000
  • Cell Name: memory B cell (CL0000787)
    Fold Change: -0.1833
    Cell Significance Index: -1.9500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1850
    Cell Significance Index: -2.8100
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1854
    Cell Significance Index: -2.8200
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.1886
    Cell Significance Index: -1.9900
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1890
    Cell Significance Index: -2.6900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1906
    Cell Significance Index: -5.4400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1912
    Cell Significance Index: -6.0900
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: -0.1929
    Cell Significance Index: -1.8800
  • Cell Name: diffuse bipolar 3b cell (CL4033030)
    Fold Change: -0.1934
    Cell Significance Index: -2.3300
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.1947
    Cell Significance Index: -3.1300
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: -0.1956
    Cell Significance Index: -2.3800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1985
    Cell Significance Index: -2.8200
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: -0.2005
    Cell Significance Index: -1.8100
  • Cell Name: L5 intratelencephalic projecting glutamatergic neuron (CL4030064)
    Fold Change: -0.2020
    Cell Significance Index: -2.1800
  • Cell Name: giant bipolar cell (CL4033035)
    Fold Change: -0.2025
    Cell Significance Index: -2.3700
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.2026
    Cell Significance Index: -2.2200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2027
    Cell Significance Index: -5.9700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2034
    Cell Significance Index: -5.4500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2036
    Cell Significance Index: -5.4500
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2069
    Cell Significance Index: -2.9000
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.2079
    Cell Significance Index: -2.1700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2092
    Cell Significance Index: -5.5000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Rhodopsin is a G protein-coupled receptor (GPCR) that consists of seven transmembrane alpha-helices, with an intracellular N-terminal domain and an extracellular C-terminal domain. Its structure is characterized by a unique arrangement of amino acids, allowing it to interact with 11-cis retinal, which is essential for its function. Rhodopsin is highly sensitive to light, with a maximum sensitivity at 500-600 nanometers, and its activity is modulated by the binding of light to the 11-cis retinal. **Pathways and Functions:** Rhodopsin plays a central role in the phototransduction cascade, which is responsible for converting light into electrical signals in photoreceptor cells. The process involves the binding of light to rhodopsin, triggering a conformational change that activates the G protein, Gt, and initiates a signaling cascade that ultimately leads to the hyperpolarization of the photoreceptor cell membrane. This process is critical for visual perception, allowing us to detect changes in light levels and navigate our environment. In addition to its role in visual perception, rhodopsin has been implicated in various cellular processes, including: 1. **Cargo trafficking:** Rhodopsin has been shown to regulate the trafficking of cargo proteins to the periciliary membrane, which is essential for the maintenance of photoreceptor cells. 2. **Cell-cell junction:** Rhodopsin has been implicated in the regulation of cell-cell junctions, which are critical for maintaining the integrity of the blood-retinal barrier. 3. **Thermotaxis:** Rhodopsin has been shown to play a role in thermotaxis, the ability of cells to respond to temperature changes. **Clinical Significance:** Dysfunction of rhodopsin has been implicated in various retinal diseases, including: 1. **Retinitis pigmentosa (RP):** A group of genetic disorders that cause progressive vision loss due to degeneration of photoreceptor cells. 2. **Age-related macular degeneration (AMD):** A leading cause of vision loss in older adults, characterized by the degeneration of the macula, a region of the retina responsible for central vision. 3. **Leber congenital amaurosis (LCA):** A rare genetic disorder that causes severe vision loss in early childhood. In addition to its role in retinal diseases, rhodopsin has also been implicated in various other diseases, including: 1. **Cancer:** Rhodopsin has been shown to play a role in the regulation of cell growth and division, and its dysfunction has been implicated in various types of cancer. 2. **Neurodegenerative diseases:** Rhodopsin has been implicated in the regulation of synaptic transmission and has been shown to play a role in various neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. In conclusion, rhodopsin is a critical component of photoreceptor cells in the retina, and its dysfunction has been implicated in various retinal and non-retinal diseases. Further research into the immunological significance of rhodopsin is necessary to fully understand its role in human health and disease.

Genular Protein ID: 4173100248

Symbol: OPSD_HUMAN

Name: Rhodopsin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 6589631

Title: Isolation and nucleotide sequence of the gene encoding human rhodopsin.

PubMed ID: 6589631

DOI: 10.1073/pnas.81.15.4851

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8566799

Title: Sequence analysis of the 5.34-kb 5' flanking region of the human rhodopsin-encoding gene.

PubMed ID: 8566799

DOI: 10.1016/0378-1119(95)00688-5

PubMed ID: 25664179

Title: Ultrastructural visualization of trans-ciliary rhodopsin cargoes in mammalian rods.

PubMed ID: 25664179

DOI: 10.1186/s13630-015-0013-1

PubMed ID: 28524165

Title: Molecular assembly of rhodopsin with G protein-coupled receptor kinases.

PubMed ID: 28524165

DOI: 10.1038/cr.2017.72

PubMed ID: 26200343

Title: Crystal structure of rhodopsin bound to arrestin by femtosecond X-ray laser.

PubMed ID: 26200343

DOI: 10.1038/nature14656

PubMed ID: 28753425

Title: Identification of Phosphorylation Codes for Arrestin Recruitment by G Protein-Coupled Receptors.

PubMed ID: 28753425

DOI: 10.1016/j.cell.2017.07.002

PubMed ID: 2239971

Title: Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline-->histidine substitution (codon 23) in pedigrees from Europe.

PubMed ID: 2239971

PubMed ID: 2137202

Title: A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

PubMed ID: 2137202

DOI: 10.1038/343364a0

PubMed ID: 2215617

Title: Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

PubMed ID: 2215617

DOI: 10.1056/nejm199011083231903

PubMed ID: 1985460

Title: A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

PubMed ID: 1985460

PubMed ID: 1897520

Title: Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

PubMed ID: 1897520

PubMed ID: 1840561

Title: Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

PubMed ID: 1840561

DOI: 10.1016/0888-7543(91)90159-c

PubMed ID: 1862076

Title: Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

PubMed ID: 1862076

DOI: 10.1073/pnas.88.15.6481

PubMed ID: 1833777

Title: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

PubMed ID: 1833777

DOI: 10.1073/pnas.88.20.9370

PubMed ID: 1302614

Title: Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.

PubMed ID: 1302614

DOI: 10.1093/hmg/1.9.769

PubMed ID: 1391967

Title: Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).

PubMed ID: 1391967

DOI: 10.1007/bf01899733

PubMed ID: 8317502

Title: Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

PubMed ID: 8317502

PubMed ID: 8406457

Title: Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.

PubMed ID: 8406457

DOI: 10.1006/geno.1993.1309

PubMed ID: 8401533

Title: Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

PubMed ID: 8401533

DOI: 10.1002/humu.1380020403

PubMed ID: 8353500

Title: Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.

PubMed ID: 8353500

DOI: 10.1093/hmg/2.6.813

PubMed ID: 8364589

Title: A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa.

PubMed ID: 8364589

DOI: 10.1002/humu.1380020309

PubMed ID: 8358437

Title: Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.

PubMed ID: 8358437

DOI: 10.1038/ng0793-280

PubMed ID: 8088850

Title: Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

PubMed ID: 8088850

DOI: 10.1006/geno.1994.1301

PubMed ID: 8076945

Title: Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa.

PubMed ID: 8076945

DOI: 10.1007/bf00208284

PubMed ID: 7981701

Title: Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

PubMed ID: 7981701

DOI: 10.1093/hmg/3.7.1203

PubMed ID: 7987326

Title: Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.

PubMed ID: 7987326

DOI: 10.1093/hmg/3.8.1421

PubMed ID: 7987331

Title: Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

PubMed ID: 7987331

DOI: 10.1093/hmg/3.8.1433

PubMed ID: 8081400

Title: Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.

PubMed ID: 8081400

DOI: 10.1002/humu.1380030417

PubMed ID: 8045708

Title: Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.

PubMed ID: 8045708

PubMed ID: 8107847

Title: Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.

PubMed ID: 8107847

DOI: 10.1038/367639a0

PubMed ID: 7987385

Title: Missense rhodopsin mutation in a family with recessive RP.

PubMed ID: 7987385

DOI: 10.1038/ng0994-10

PubMed ID: 7633434

Title: Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

PubMed ID: 7633434

DOI: 10.1093/hmg/4.4.775

PubMed ID: 7846071

Title: Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.

PubMed ID: 7846071

DOI: 10.1073/pnas.92.3.880

PubMed ID: 8554077

Title: Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

PubMed ID: 8554077

DOI: 10.1016/s0002-9394(14)70530-6

PubMed ID: 9452035

Title: Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.

PubMed ID: 9452035

DOI: 10.1002/humu.1380110114

PubMed ID: 9888392

Title: A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.

PubMed ID: 9888392

DOI: 10.1002/(sici)1098-1004(1999)13:1<75::aid-humu9>3.0.co;2-4

PubMed ID: 12566452

Title: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

PubMed ID: 12566452

DOI: 10.1074/jbc.m300087200

PubMed ID: 19934218

Title: A dual role for EDEM1 in the processing of rod opsin.

PubMed ID: 19934218

DOI: 10.1242/jcs.055228

PubMed ID: 19960070

Title: A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

PubMed ID: 19960070

PubMed ID: 22334370

Title: Next-generation genetic testing for retinitis pigmentosa.

PubMed ID: 22334370

DOI: 10.1002/humu.22045

PubMed ID: 28837730

Title: A novel potentially causative variant of NDUFAF7 revealed by mutation screening in a chinese family with pathologic myopia.

PubMed ID: 28837730

DOI: 10.1167/iovs.16-20941

Sequence Information:

  • Length: 348
  • Mass: 38893
  • Checksum: 6F4F6FCBA34265B2
  • Sequence:
  • MNGTEGPNFY VPFSNATGVV RSPFEYPQYY LAEPWQFSML AAYMFLLIVL GFPINFLTLY 
    VTVQHKKLRT PLNYILLNLA VADLFMVLGG FTSTLYTSLH GYFVFGPTGC NLEGFFATLG 
    GEIALWSLVV LAIERYVVVC KPMSNFRFGE NHAIMGVAFT WVMALACAAP PLAGWSRYIP 
    EGLQCSCGID YYTLKPEVNN ESFVIYMFVV HFTIPMIIIF FCYGQLVFTV KEAAAQQQES 
    ATTQKAEKEV TRMVIIMVIA FLICWVPYAS VAFYIFTHQG SNFGPIFMTI PAFFAKSAAI 
    YNPVIYIMMN KQFRNCMLTT ICCGKNPLGD DEASATVSKT ETSQVAPA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.