RP2
MCID: RTN162
MIFTS: 51

Retinitis Pigmentosa 2 (RP2)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 2

MalaCards integrated aliases for Retinitis Pigmentosa 2:

Name: Retinitis Pigmentosa 2 58 12 76 30 13 6 15 74
Rp2 58 12 76
X-Linked Retinitis Pigmentosa 2 76
Retinitis Pigmentosa, Type 2 41
Xlrp-2 76
Xlrp2 76

Characteristics:

OMIM:

58
Inheritance:
x-linked

Miscellaneous:
some heterozygous females show a blue-yellow color defect


HPO:

33
retinitis pigmentosa 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110415
OMIM 58 312600
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C2681923
UMLS 74 C2681923

Summaries for Retinitis Pigmentosa 2

OMIM : 58 Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (312600)

MalaCards based summary : Retinitis Pigmentosa 2, also known as rp2, is related to fundus dystrophy and retinitis. An important gene associated with Retinitis Pigmentosa 2 is RP2 (RP2 Activator Of ARL3 GTPase), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Decitabine and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include b cells, myeloid and prostate, and related phenotypes are cataract and myopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RP2 gene on chromosome Xp11.3.

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 2: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Related Diseases for Retinitis Pigmentosa 2

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 30.8 RP2 RPGR TIMP1
2 retinitis 30.7 RP2 RPGR
3 retinal degeneration 29.6 RP2 RPGR
4 retinitis pigmentosa 29.1 ARL3 RP2 RPGR TIMP1 TNPO1
5 retinitis pigmentosa 2, x-linked 12.2
6 leber congenital amaurosis 11.2
7 cone-rod dystrophy 2 11.2
8 leber congenital amaurosis 4 10.5
9 malaria 10.0
10 optic nerve disease 10.0
11 leber hereditary optic neuropathy 10.0
12 neuropathy 10.0
13 retinal disease 9.9
14 joubert syndrome 1 9.7 ARL3 RPGR
15 aland island eye disease 9.7 PRICKLE3 TIMP1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 2:



Diseases related to Retinitis Pigmentosa 2

Symptoms & Phenotypes for Retinitis Pigmentosa 2

Human phenotypes related to Retinitis Pigmentosa 2:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 myopia 33 HP:0000545
3 nyctalopia 33 HP:0000662
4 rod-cone dystrophy 33 HP:0000510
5 constriction of peripheral visual field 33 HP:0001133
6 pigmentary retinopathy 33 HP:0000580
7 chorioretinal degeneration 33 HP:0200065

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
pigmentary retinopathy
night blindness
retinitis pigmentosa
constricted visual fields
more

Clinical features from OMIM:

312600

Drugs & Therapeutics for Retinitis Pigmentosa 2

Drugs for Retinitis Pigmentosa 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 482)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Decitabine Approved, Investigational Phase 2, Phase 3,Phase 1 2353-33-5 451668
2
Gemcitabine Approved Phase 2, Phase 3,Phase 1 95058-81-4 60750
3
Cisplatin Approved Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 15663-27-1 2767 441203 84093
4
leucovorin Approved Phase 2, Phase 3,Phase 1,Early Phase 1 58-05-9 143 6006
5
Atezolizumab Approved, Investigational Phase 2, Phase 3,Phase 1 1380723-44-3
6
Carboplatin Approved Phase 2, Phase 3,Phase 1,Early Phase 1 41575-94-4 10339178 38904 498142
7
Pemetrexed Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 150399-23-8, 137281-23-3 60843 446556
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1,Early Phase 1 59-30-3 6037
9 Entrectinib Investigational Phase 2, Phase 3,Phase 1 1108743-60-7
10 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1
11 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1
12 Immunologic Factors Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable
13 Antibodies Phase 2, Phase 3,Phase 1,Early Phase 1
14 Antibodies, Monoclonal Phase 2, Phase 3,Phase 1,Early Phase 1
15 Anti-Infective Agents Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable
16 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable
17 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 1,Early Phase 1
18 Immunoglobulins Phase 2, Phase 3,Phase 1,Early Phase 1
19 Antiviral Agents Phase 2, Phase 3,Phase 1
20 Folate Phase 2, Phase 3,Phase 1,Early Phase 1
21 Vitamin B9 Phase 2, Phase 3,Phase 1,Early Phase 1
22 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1,Early Phase 1
23 Folic Acid Antagonists Phase 2, Phase 3,Phase 1,Early Phase 1
24 Vitamin B Complex Phase 2, Phase 3,Phase 1,Early Phase 1
25
Topotecan Approved, Investigational Phase 1, Phase 2,Phase 2 119413-54-6, 123948-87-8 60700
26
Progesterone Approved, Vet_approved Phase 1, Phase 2,Phase 2 57-83-0 5994
27
Artemether Approved Phase 1, Phase 2 71963-77-4 68911 119380
28
Ribavirin Approved Phase 1, Phase 2,Phase 2 36791-04-5 37542
29
afatinib Approved Phase 1, Phase 2,Phase 2 850140-72-6, 439081-18-2 10184653
30
Gefitinib Approved, Investigational Phase 1, Phase 2,Phase 2 184475-35-2 123631
31
Adenosine Approved, Investigational Phase 1, Phase 2,Phase 2 58-61-7 60961
32
Cyclophosphamide Approved, Investigational Phase 1, Phase 2,Phase 2 50-18-0, 6055-19-2 2907
33
Pentostatin Approved, Investigational Phase 1, Phase 2 53910-25-1 439693 40926
34
Lenvatinib Approved, Investigational Phase 1, Phase 2,Phase 2 417716-92-8
35
Crizotinib Approved Phase 1, Phase 2,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
36
Paclitaxel Approved, Vet_approved Phase 1, Phase 2,Phase 2 33069-62-4 36314
37
Capecitabine Approved, Investigational Phase 1, Phase 2,Phase 2 154361-50-9 60953
38
Sunitinib Approved, Investigational Phase 1, Phase 2,Phase 2 557795-19-4, 341031-54-7 5329102
39
Dabrafenib Approved, Investigational Phase 1, Phase 2,Phase 2 1195765-45-7 44462760 44516822
40
Vemurafenib Approved Phase 1, Phase 2,Early Phase 1 918504-65-1 23252090 42611257
41
Bortezomib Approved, Investigational Phase 1, Phase 2,Phase 2 179324-69-7 387447 93860
42
Dasatinib Approved, Investigational Phase 1, Phase 2,Phase 2 302962-49-8 3062316
43
Cytarabine Approved, Experimental, Investigational Phase 1, Phase 2,Phase 2 147-94-4, 65-46-3 6253
44
Everolimus Approved Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 159351-69-6 70789204 6442177
45
Sirolimus Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 53123-88-9 46835353 5284616 6436030
46
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
47
Temozolomide Approved, Investigational Phase 1, Phase 2,Phase 2 85622-93-1 5394
48
Prednisone Approved, Vet_approved Phase 1, Phase 2,Phase 2 53-03-2 5865
49
Ixazomib Approved, Investigational Phase 1, Phase 2,Phase 2 1072833-77-2
50
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053

Interventional clinical trials:

(show top 50) (show all 1171)
# Name Status NCT ID Phase Drugs
1 An Efficacy and Safety Study of Decitabine (DACOGEN) Plus Talacotuzumab (JNJ-56022473; Anti CD123) Versus Decitabine (DACOGEN) Alone in Participants With Acute Myeloid Leukemia (AML) Ineligible for Intensive Chemotherapy Completed NCT02472145 Phase 2, Phase 3 Decitabine 20 mg/m^2;Talacotuzumab 9 mg/kg
2 A Study to Evaluate Efficacy and Safety of Multiple Targeted Therapies as Treatments for Participants With Non-Small Cell Lung Cancer (NSCLC) Recruiting NCT03178552 Phase 2, Phase 3 Alectinib;Atezolizumab;Pemetrexed;Cisplatin;Carboplatin;Gemcitabine;Entrectinib
3 Phase I Dose Escalation Study of Topotecan and Pazopanib in Children With Recurrent/Refractory Solid and CNS Tumours Unknown status NCT02303028 Phase 1, Phase 2 Topotecan and Pazopanib
4 Phase 1-2 Study of Onapristone in Patients With Progesterone Receptor Expressing Cancers Unknown status NCT02052128 Phase 1, Phase 2 onapristone
5 A Phase 1/2a Study of LON002 in Subjects With Advanced Solid Tumours Unknown status NCT02263950 Phase 1, Phase 2 Artemether
6 Phase I/II Study of Ribavirin Given as Monotherapy in Solid Tumour Cancer Patients Unknown status NCT01309490 Phase 1, Phase 2 Ribavirin
7 Study of the Bruton's Tyrosine Kinase Inhibitor in Subjects With Chronic Graft Versus Host Disease Unknown status NCT02195869 Phase 1, Phase 2 Ibrutinib
8 Phase I/II Trial of Safety and Anti-tumor Efficacy of AXL1717(Picropodophyllin) in the Treatment of Recurrent Malignant Astrocytomas Unknown status NCT01721577 Phase 1, Phase 2 AXL1717
9 Afatinib Plus Nimotuzumb for NSCLC Unknown status NCT01861223 Phase 1, Phase 2 afatinib (30 or 40mg) + nimotuzumab (100 or 200mg)
10 SS1P and Pentostatin Plus Cyclophosphamide for Mesothelioma Unknown status NCT01362790 Phase 1, Phase 2 Pentostatin;Cyclophosphamide
11 E7050 in Combination With E7080 in Subjects With Advanced Solid Tumors (Dose Escalation) and in Subjects With Recurrent Glioblastoma or Unresectable Stage III or Stage IV Melanoma After Prior Systemic Therapy (Expansion Cohort and Phase 2) Unknown status NCT01433991 Phase 1, Phase 2 E7050 plus lenvatinib;lenvatinib plus E7050;E7050 plus lenvatinib or lenvatinib alone plus E7050 add-on therapy;E7050 plus lenvatinib;E7050
12 A Study of MCLA-128 in Patients With Solid Tumors Unknown status NCT02912949 Phase 1, Phase 2 MCLA-128
13 A Phase Ib/II Study of LEE011 in Combination With MEK162 in Patients With NRAS Mutant Melanoma Completed NCT01781572 Phase 1, Phase 2 LEE011 and MEK162;LEE011 and MEK162;LEE011 and MEK162;LEE011 and MEK162
14 Study of Bendamustine Hydrochloride for the Treatment of Pediatric Patients With Relapsed or Refractory Acute Leukemia Completed NCT01088984 Phase 1, Phase 2 Bendamustine
15 BKM120 Combined With Vemurafenib (PLX4032) in BRAFV600E/K Mutant Advanced Melanoma Completed NCT01512251 Phase 1, Phase 2 BKM120 Combined with Vemurafenib (PLX4032)
16 Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations Completed NCT01752920 Phase 1, Phase 2 ARQ 087
17 A Study of KW-2478 in Combination With Bortezomib in Subjects With Relapsed and/or Refractory Multiple Myeloma Completed NCT01063907 Phase 1, Phase 2 KW-2478;Bortezomib
18 A Study of Alectinib (CH5424802/RO5424802) in Participants With Anaplastic Lymphoma Kinase (ALK)-Rearranged Non-Small Cell Lung Cancer (NSCLC) Completed NCT01871805 Phase 1, Phase 2 Alectinib
19 Dasatinib Combination Therapy With the Smoothened (SMO) Inhibitor BMS-833923 in Chronic Myeloid Leukemia (CML) Completed NCT01218477 Phase 1, Phase 2 Dasatinib;BMS-833923
20 Use of Ribavirin and Low Dose Ara-C to Treat Acute Myeloid Leukemia Completed NCT01056523 Phase 1, Phase 2 Ribavirin;Cytarabine arabinoside
21 Phase Ib/II Trial of BEZ235 With Paclitaxel in Patients With HER2 Negative, Locally Advanced or Metastatic Breast Cancer Completed NCT01495247 Phase 1, Phase 2 BEZ235 + Paclitaxel
22 A Study of Alectinib (RO5424802) in Participants With Non-Small Cell Lung Cancer Who Have Anaplastic Lymphoma Kinase (ALK) Mutation and Failed Crizotinib Treatment Completed NCT01801111 Phase 1, Phase 2 Erlotinib;Alectinib
23 Safety, Tolerability, and Efficacy of TAK-659 in Adults With Relapsed or Refractory Acute Myelogenous Leukemia (AML) Completed NCT02323113 Phase 1, Phase 2 TAK-659
24 Study of IDO Inhibitor in Combination With Gemcitabine and Nab-Paclitaxel in Patients With Metastatic Pancreatic Cancer Completed NCT02077881 Phase 1, Phase 2 Nab-Paclitaxel;Gemcitabine;Indoximod
25 Study of Gemcitabine + PEGPH20 vs Gemcitabine Alone in Stage IV Previously Untreated Pancreatic Cancer Completed NCT01453153 Phase 1, Phase 2 Gemcitabine;PEGPH20;Placebo
26 A Study of BBI608 in Combination With Temozolomide in Adult Patients With Recurrent or Progressed Glioblastoma Completed NCT02315534 Phase 1, Phase 2 BBI608;Temozolomide
27 Study of Oral Ixazomib in Combination With Melphalan and Prednisone in Participants With Newly Diagnosed Multiple Myeloma Completed NCT01335685 Phase 1, Phase 2 Ixazomib;Melphalan;Prednisone
28 A Phase 1b/2 Study in Asian Subjects With Non-Small Cell Lung Cancer Completed NCT01039948 Phase 1, Phase 2 Gefitinib
29 Study of Oral IXAZOMIB in Combination With Lenalidomide and Dexamethasone in Participants With Newly Diagnosed Multiple Myeloma Completed NCT01383928 Phase 1, Phase 2 Ixazomib;Lenalidomide;Dexamethasone
30 LCCC 1128: Open Label Phase II Trial of the BRAF Inhibitor (Dabrafenib) and the MEK Inhibitor (Trametinib) in Unresectable Stage III and Stage IV BRAF Mutant Melanoma; Correlation of Resistance With the Kinome and Functional Mutations Completed NCT01726738 Phase 2 BRAF inhibitor dabrafenib and MEK inhibitor trametinib
31 Dose Escalation Study of ADXS31-164 in Subjects With HER2 Expressing Solid Tumors Completed NCT02386501 Phase 1, Phase 2 ADXS31-164
32 A Study of Ixazomib Administered in Combination With Lenalidomide and Low-Dose Dexamethasone in Patients With Newly Diagnosed Multiple Myeloma Completed NCT01217957 Phase 1, Phase 2 Ixazomib;Lenalidomide;Dexamethasone
33 Selumetinib in Combination With Gefitinib in NSCLC Patients Completed NCT02025114 Phase 1, Phase 2 selumetinib
34 A Phase 2 Trial of Bevacizumab, Lenalidomide, Docetaxel, and Prednisone (ART-P) for Treatment of Metastatic Castrate-Resistant Prostate Cancer Completed NCT00942578 Phase 2 Bevacizumab;Lenalidomide;Docetaxel;Prednisone
35 An Investigational Drug, Palbociclib (PD-0332991), Is Being Studied In Combination With Velcade And Dexamethasone In Patients With Multiple Myeloma. Patients Must Have Received Prior Treatment For Multiple Myeloma. Completed NCT00555906 Phase 2 Bortezomib;Dexamethasone;PD 0332991
36 A Study of Clofarabine in Combination With Etoposide and Cyclophosphamide in Children With Acute Leukemias. Completed NCT00315705 Phase 1, Phase 2 clofarabine;Etoposide;Cyclophosphamide
37 A Study of Polatuzumab Vedotin in Combination With Rituximab or Obinutuzumab, Cyclophosphamide, Doxorubicin, and Prednisone in Participants With B-Cell Non-Hodgkin's Lymphoma Completed NCT01992653 Phase 1, Phase 2 Cyclophosphamide;Doxorubicin;Obinutuzumab;Polatuzumab Vedotin;Prednisolone;Prednisone;Rituximab
38 Phase 2 Study With PQR309 in Relapsed or Refractory Lymphoma Patients Completed NCT03127020 Phase 2 PQR309
39 A Study of E7080 Alone, and in Combination With Everolimus in Subjects With Unresectable Advanced or Metastatic Renal Cell Carcinoma Following One Prior Vascular Endothelial Growth Factor (VEGF)-Targeted Treatment Completed NCT01136733 Phase 1, Phase 2 Lenvatinib;Everolimus
40 Open-Label, Non Randomized Phase 2 Study With Safety Run-In Completed NCT02249429 Phase 1, Phase 2 PQR309
41 Study Evaluating Inotuzumab Ozogamicin In Acute Lymphocytic Leukemia Completed NCT01363297 Phase 2 Inotuzumab Ozogamicin
42 Study to Evaluate Safety, Pharmacokinetics, and Efficacy of Rociletinib (CO-1686) in Previously Treated Mutant Epidermal Growth Factor Receptor (EGFR) in Non-Small Cell Lung Cancer (NSCLC) Patients Completed NCT01526928 Phase 1, Phase 2 Rociletinib
43 A Study Evaluating Intermittent and Continuous OSI-906 and Weekly Paclitaxel in Patients With Recurrent Epithelial Ovarian Cancer (and Other Solid Tumors) Completed NCT00889382 Phase 1, Phase 2 OSI-906;Paclitaxel
44 A Phase I/II Trial of Crolibulin (EPC2407) Plus Cisplatin in Adults With Solid Tumors With a Focus on Anaplastic Thyroid Cancer (ATC) Completed NCT01240590 Phase 1, Phase 2 Crolibulin;Cisplatin
45 GTI-2040 and Docetaxel in Treating Patients With Recurrent, Metastatic, or Unresectable Locally Advanced Non-Small Cell Lung Cancer, Prostate Cancer, or Other Solid Tumors Completed NCT00074022 Phase 1, Phase 2 docetaxel
46 Combination With Gemcitabine in Advanced Pancreatic Cancer Completed NCT01251640 Phase 1, Phase 2 BAY86-9766+Gemcitabine
47 Ibrutinib and Lenalidomide With Dose Adjusted EPOCH-R in Subjects With Relapsed/Refractory Diffuse Large B-cell Lymphoma Completed NCT02142049 Phase 1, Phase 2 Ibrutinib;DA-EPOCH-R;Lenalidomide
48 A Phase 1/2 Dose Finding Study of an Experimental New Drug CS7017, an Oral PPARγ Agonist Taken by Mouth Twice Daily in Combination With Paclitaxel Chemotherapy Completed NCT00603941 Phase 1, Phase 2 CS7017;Paclitaxel
49 Study of WNT974 in Combination With LGX818 and Cetuximab in Patients With BRAF-mutant Metastatic Colorectal Cancer (mCRC) and Wnt Pathway Mutations Completed NCT02278133 Phase 1, Phase 2 WNT974;LGX818
50 A Phase IIa Study Investigating the Tolerance, Efficacy and Safety of HSK3486 Completed NCT03698617 Phase 2 HSK3486;Propofol

Search NIH Clinical Center for Retinitis Pigmentosa 2

Genetic Tests for Retinitis Pigmentosa 2

Genetic tests related to Retinitis Pigmentosa 2:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 2 30 RP2

Anatomical Context for Retinitis Pigmentosa 2

MalaCards organs/tissues related to Retinitis Pigmentosa 2:

42
B Cells, Myeloid, Prostate, T Cells, Brain, Bone, Thyroid

Publications for Retinitis Pigmentosa 2

Articles related to Retinitis Pigmentosa 2:

(show top 50) (show all 108)
# Title Authors Year
1
Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina. ( 31024631 )
2019
2
A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability. ( 31071385 )
2019
3
Novel non-sense mutation in RP2 (c.843_844insT/p.Arg282fs) is associated with a severe phenotype of retinitis pigmentosa without evidence of primary retinal pigment epithelium involvement. ( 31079036 )
2019
4
Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling. ( 29361551 )
2018
5
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. ( 28209709 )
2017
6
Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa. ( 28294154 )
2017
7
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. ( 28444310 )
2017
8
Variation in Basal Body Localisation and Targeting of Trypanosome RP2 and FOR20 Proteins. ( 28822909 )
2017
9
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. ( 28854704 )
2017
10
Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. ( 27911705 )
2016
11
Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa. ( 27323122 )
2016
12
Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa. ( 27769321 )
2016
13
Pattern dystrophy in a female carrier of RP2 mutation. ( 26885761 )
2016
14
Reaction Mechanism of Guanosine Triphosphate Hydrolysis by the Vision-Related Protein Complex Arl3-RP2. ( 27043216 )
2016
15
A Novel Electrophototrophic Bacterium Rhodopseudomonas palustris Strain RP2, Exhibits Hydrocarbonoclastic Potential in Anaerobic Environments. ( 27462307 )
2016
16
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. ( 26358772 )
2015
17
Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. ( 26383048 )
2015
18
Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. ( 25422369 )
2015
19
X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish. ( 26134862 )
2015
20
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. ( 25292197 )
2015
21
Lipid Selectivity, Orientation, and Extent of Membrane Binding of Nonacylated RP2. ( 25844643 )
2015
22
Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. ( 26034134 )
2015
23
A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family. ( 24479636 )
2014
24
An alternative model for the role of RP2 protein in flagellum assembly in the African trypanosome. ( 24257747 )
2014
25
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. ( 23745007 )
2013
26
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. ( 23372056 )
2013
27
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic. ( 22072390 )
2012
28
The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function. ( 22183373 )
2012
29
Distribution of polymorphisms IL4-590 C/T and IL4 RP2 in the human populations of Madeira, Azores, Portugal, Cape Verde and Guinea-Bissau. ( 22724055 )
2012
30
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins. ( 22884633 )
2012
31
Positional cloning of rp2 QTL associates the P450 genes CYP6Z1, CYP6Z3 and CYP6M7 with pyrethroid resistance in the malaria vector Anopheles funestus. ( 22948188 )
2012
32
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. ( 23150612 )
2012
33
Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. ( 21282572 )
2011
34
Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2. ( 21285245 )
2011
35
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. ( 21738648 )
2011
36
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. ( 22085962 )
2011
37
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. ( 20625056 )
2010
38
Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells. ( 20669900 )
2010
39
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. ( 20729296 )
2010
40
Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. ( 20021257 )
2010
41
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. ( 20106869 )
2010
42
Expression of PSA-RP2, an alternatively spliced variant from the PSA gene, is increased in prostate cancer tissues but the protein is not secreted from prostate cancer cells. ( 20180647 )
2010
43
Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa. ( 19516003 )
2009
44
RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa? ( 19702441 )
2009
45
The CNS midline cells and Egfr signaling genes are required for establishment of the RP2 motoneuron lineage in the Drosophila central nervous system. ( 19250628 )
2009
46
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. ( 18376416 )
2008
47
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. ( 16969763 )
2007
48
Gene symbol: RP2. ( 17598203 )
2007
49
Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa. ( 16936086 )
2006
50
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. ( 17093403 )
2006

Variations for Retinitis Pigmentosa 2

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 2:

76
# Symbol AA change Variation ID SNP ID
1 RP2 p.Cys108Gly VAR_008498
2 RP2 p.Arg118His VAR_008499 rs28933687
3 RP2 p.Leu253Arg VAR_008500
4 RP2 p.Cys67Tyr VAR_018069
5 RP2 p.Cys86Tyr VAR_018070
6 RP2 p.Arg118Leu VAR_018072 rs28933687
7 RP2 p.Glu138Gly VAR_018074
8 RP2 p.Leu188Pro VAR_018075
9 RP2 p.Arg118Cys VAR_026058
10 RP2 p.Cys108Tyr VAR_068353

ClinVar genetic disease variations for Retinitis Pigmentosa 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 RP2 NM_006915.2(RP2): c.16_18delTCC (p.Ser6del) deletion Pathogenic rs137852284 GRCh37 Chromosome X, 46696551: 46696553
2 RP2 NM_006915.2(RP2): c.16_18delTCC (p.Ser6del) deletion Pathogenic rs137852284 GRCh38 Chromosome X, 46837116: 46837118
3 RP2 NM_006915.2(RP2): c.76C> T (p.Gln26Ter) single nucleotide variant Pathogenic rs104894925 GRCh37 Chromosome X, 46696611: 46696611
4 RP2 NM_006915.2(RP2): c.76C> T (p.Gln26Ter) single nucleotide variant Pathogenic rs104894925 GRCh38 Chromosome X, 46837176: 46837176
5 RP2 NM_006915.2(RP2): c.353G> A (p.Arg118His) single nucleotide variant Pathogenic rs28933687 GRCh37 Chromosome X, 46713161: 46713161
6 RP2 NM_006915.2(RP2): c.353G> A (p.Arg118His) single nucleotide variant Pathogenic rs28933687 GRCh38 Chromosome X, 46853726: 46853726
7 RP2 NM_006915.2(RP2): c.453C> G (p.Tyr151Ter) single nucleotide variant Pathogenic rs104894926 GRCh37 Chromosome X, 46713261: 46713261
8 RP2 NM_006915.2(RP2): c.453C> G (p.Tyr151Ter) single nucleotide variant Pathogenic rs104894926 GRCh38 Chromosome X, 46853826: 46853826
9 RP2 RP2, 1-BP DEL deletion Pathogenic
10 RP2 NM_006915.2(RP2): c.353G> T (p.Arg118Leu) single nucleotide variant Pathogenic rs28933687 GRCh37 Chromosome X, 46713161: 46713161
11 RP2 NM_006915.2(RP2): c.353G> T (p.Arg118Leu) single nucleotide variant Pathogenic rs28933687 GRCh38 Chromosome X, 46853726: 46853726
12 RP2 RP2, 1-BP INS, 303T insertion Pathogenic
13 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh37 Chromosome X, 46713166: 46713166
14 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh38 Chromosome X, 46853731: 46853731
15 RP2 NM_006915.2(RP2): c.314G> A (p.Cys105Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 46713122: 46713122
16 RP2 NM_006915.2(RP2): c.314G> A (p.Cys105Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 46853687: 46853687

Expression for Retinitis Pigmentosa 2

Search GEO for disease gene expression data for Retinitis Pigmentosa 2.

Pathways for Retinitis Pigmentosa 2

Pathways related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 ARL3 RP2 TNPO1
2
Show member pathways
10.99 ARL3 RP2

GO Terms for Retinitis Pigmentosa 2

Cellular components related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.56 ARL3 RP2 TIMP1 TNPO1
2 cell projection GO:0042995 9.5 ARL3 RP2 RPGR
3 ciliary basal body GO:0036064 9.16 RP2 RPGR
4 centrosome GO:0005813 9.13 ARL3 PRICKLE3 RPGR
5 cilium GO:0005929 8.92 ARL3 RP2 RPGR TNPO1

Biological processes related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.37 RP2 RPGR
2 protein transport GO:0015031 9.33 ARL3 RP2 TNPO1
3 cilium assembly GO:0060271 9.32 ARL3 RPGR
4 cell projection organization GO:0030030 9.26 PRICKLE3 RPGR
5 intraciliary transport GO:0042073 8.96 ARL3 RPGR
6 post-Golgi vesicle-mediated transport GO:0006892 8.62 ARL3 RP2

Sources for Retinitis Pigmentosa 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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