RP2
MCID: RTN162
MIFTS: 52

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 Carboplatin and Decitabine 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 13)
# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 31.3 RP2 RPGR
2 retinitis 30.7 RP2 RPGR
3 retinitis pigmentosa 29.8 ARL3 RP2 RPGR TNPO1
4 retinal degeneration 29.7 RP2 RPGR
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 joubert syndrome 1 9.7 ARL3 RPGR

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 478)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3,Phase 1,Early Phase 1 41575-94-4 38904 10339178 498142
2
Decitabine Approved, Investigational Phase 2, Phase 3,Phase 1 2353-33-5 451668
3
leucovorin Approved Phase 2, Phase 3,Phase 1,Early Phase 1 58-05-9 6006 143
4
Gemcitabine Approved Phase 2, Phase 3,Phase 1 95058-81-4 60750
5
Atezolizumab Approved, Investigational Phase 2, Phase 3,Phase 1 1380723-44-3
6
Pemetrexed Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 150399-23-8, 137281-23-3 60843 446556
7
Cisplatin Approved Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 15663-27-1 441203 84093 2767
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, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1
11 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1
12 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 1,Early Phase 1
13 Immunoglobulins Phase 2, Phase 3,Phase 1,Early Phase 1
14 Antibodies, Monoclonal Phase 2, Phase 3,Phase 1,Early Phase 1
15 Antibodies Phase 2, Phase 3,Phase 1,Early Phase 1
16 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable
17 Immunologic Factors Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable
18 Anti-Infective Agents Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable
19 Antiviral Agents Phase 2, Phase 3,Phase 1
20 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1,Early Phase 1
21 Folic Acid Antagonists Phase 2, Phase 3,Phase 1,Early Phase 1
22 Vitamin B9 Phase 2, Phase 3,Phase 1,Early Phase 1
23 Vitamin B Complex Phase 2, Phase 3,Phase 1,Early Phase 1
24 Folate Phase 2, Phase 3,Phase 1,Early Phase 1
25
Progesterone Approved, Vet_approved Phase 1, Phase 2,Phase 2 57-83-0 5994
26
Artemether Approved Phase 1, Phase 2 71963-77-4 119380 68911
27
Ribavirin Approved Phase 1, Phase 2,Phase 2 36791-04-5 37542
28
afatinib Approved Phase 1, Phase 2,Phase 2 850140-72-6, 439081-18-2 10184653
29
Gefitinib Approved, Investigational Phase 1, Phase 2,Phase 2 184475-35-2 123631
30
Adenosine Approved, Investigational Phase 1, Phase 2,Phase 2 58-61-7 60961
31
Pentostatin Approved, Investigational Phase 1, Phase 2 53910-25-1 40926 439693
32
Cyclophosphamide Approved, Investigational Phase 1, Phase 2,Phase 2 6055-19-2, 50-18-0 2907
33
Lenvatinib Approved, Investigational Phase 1, Phase 2,Phase 2 417716-92-8
34
Crizotinib Approved Phase 1, Phase 2,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
35
Paclitaxel Approved, Vet_approved Phase 1, Phase 2,Phase 2 33069-62-4 36314
36
Capecitabine Approved, Investigational Phase 1, Phase 2,Phase 2 154361-50-9 60953
37
Sunitinib Approved, Investigational Phase 1, Phase 2,Phase 2 557795-19-4, 341031-54-7 5329102
38
Dabrafenib Approved, Investigational Phase 1, Phase 2,Phase 2 1195765-45-7 44462760 44516822
39
Vemurafenib Approved Phase 1, Phase 2,Early Phase 1 918504-65-1 23252090 42611257
40
Bortezomib Approved, Investigational Phase 1, Phase 2,Phase 2 179324-69-7 387447 93860
41
Dasatinib Approved, Investigational Phase 1, Phase 2,Phase 2 302962-49-8 3062316
42
Cytarabine Approved, Experimental, Investigational Phase 1, Phase 2,Phase 2 147-94-4, 65-46-3 6253
43
Everolimus Approved Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 159351-69-6 6442177 70789204
44
Sirolimus Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 53123-88-9 46835353 6436030 5284616
45
Pancrelipase Approved, Investigational Phase 1, Phase 2,Phase 2 53608-75-6
46
Temozolomide Approved, Investigational Phase 1, Phase 2,Phase 2 85622-93-1 5394
47
Ixazomib Approved, Investigational Phase 1, Phase 2,Phase 2 1072833-77-2
48
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
49
Prednisone Approved, Vet_approved Phase 1, Phase 2,Phase 2 53-03-2 5865
50
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 1177-87-3

Interventional clinical trials:

(show top 50) (show all 1135)
# 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 1-2 Study of Onapristone in Patients With Progesterone Receptor Expressing Cancers Unknown status NCT02052128 Phase 1, Phase 2 onapristone
4 A Phase 1/2a Study of LON002 in Subjects With Advanced Solid Tumours Unknown status NCT02263950 Phase 1, Phase 2 Artemether
5 Phase I/II Study of Ribavirin Given as Monotherapy in Solid Tumour Cancer Patients Unknown status NCT01309490 Phase 1, Phase 2 Ribavirin
6 Study of the Bruton's Tyrosine Kinase Inhibitor in Subjects With Chronic Graft Versus Host Disease Unknown status NCT02195869 Phase 1, Phase 2 Ibrutinib
7 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
8 Afatinib Plus Nimotuzumb for NSCLC Unknown status NCT01861223 Phase 1, Phase 2 afatinib (30 or 40mg) + nimotuzumab (100 or 200mg)
9 SS1P and Pentostatin Plus Cyclophosphamide for Mesothelioma Unknown status NCT01362790 Phase 1, Phase 2 Pentostatin;Cyclophosphamide
10 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
11 A Study of MCLA-128 in Patients With Solid Tumors Unknown status NCT02912949 Phase 1, Phase 2 MCLA-128
12 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
13 Study of Bendamustine Hydrochloride for the Treatment of Pediatric Patients With Relapsed or Refractory Acute Leukemia Completed NCT01088984 Phase 1, Phase 2 Bendamustine
14 BKM120 Combined With Vemurafenib (PLX4032) in BRAFV600E/K Mutant Advanced Melanoma Completed NCT01512251 Phase 1, Phase 2 BKM120 Combined with Vemurafenib (PLX4032)
15 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
16 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
17 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
18 Dasatinib Combination Therapy With the Smoothened (SMO) Inhibitor BMS-833923 in Chronic Myeloid Leukemia (CML) Completed NCT01218477 Phase 1, Phase 2 Dasatinib;BMS-833923
19 Use of Ribavirin and Low Dose Ara-C to Treat Acute Myeloid Leukemia Completed NCT01056523 Phase 1, Phase 2 Ribavirin;Cytarabine arabinoside
20 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
21 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
22 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
23 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
24 Study of Gemcitabine + PEGPH20 vs Gemcitabine Alone in Stage IV Previously Untreated Pancreatic Cancer Completed NCT01453153 Phase 1, Phase 2 Gemcitabine;PEGPH20;Placebo
25 A Study of BBI608 in Combination With Temozolomide in Adult Patients With Recurrent or Progressed Glioblastoma Completed NCT02315534 Phase 1, Phase 2 BBI608;Temozolomide
26 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
27 A Phase 1b/2 Study in Asian Subjects With Non-Small Cell Lung Cancer Completed NCT01039948 Phase 1, Phase 2 Gefitinib
28 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
29 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
30 Dose Escalation Study of ADXS31-164 in Subjects With HER2 Expressing Solid Tumors Completed NCT02386501 Phase 1, Phase 2 ADXS31-164
31 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
32 Selumetinib in Combination With Gefitinib in NSCLC Patients Completed NCT02025114 Phase 1, Phase 2 selumetinib
33 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
34 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
35 A Study of Clofarabine in Combination With Etoposide and Cyclophosphamide in Children With Acute Leukemias. Completed NCT00315705 Phase 1, Phase 2 clofarabine;Etoposide;Cyclophosphamide
36 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
37 Phase 2 Study With PQR309 in Relapsed or Refractory Lymphoma Patients Completed NCT03127020 Phase 2 PQR309
38 Open-Label, Non Randomized Phase 2 Study With Safety Run-In Completed NCT02249429 Phase 1, 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 Study Evaluating Inotuzumab Ozogamicin In Acute Lymphocytic Leukemia Completed NCT01363297 Phase 2 Inotuzumab Ozogamicin
41 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
42 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
43 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
44 Combination With Gemcitabine in Advanced Pancreatic Cancer Completed NCT01251640 Phase 1, Phase 2 BAY86-9766+Gemcitabine
45 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
46 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
47 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
48 A Phase IIa Study Investigating the Tolerance, Efficacy and Safety of HSK3486 Completed NCT03698617 Phase 2 HSK3486;Propofol
49 Open Label Dose-Finding Study of TRC105 Plus Capecitabine for Metastatic Breast Cancer Completed NCT01326481 Phase 1, Phase 2 TRC105;Capecitabine
50 Combination of Decitabine and Temozolomide in the Treatment of Patients With Metastatic Melanoma Completed NCT00715793 Phase 1, Phase 2 Decitabine;Temozolomide

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, Brain, T Cells, Bone, Thyroid

Publications for Retinitis Pigmentosa 2

Articles related to Retinitis Pigmentosa 2:

(show all 47)
# Title Authors Year
1
Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling. ( 29361551 )
2018
2
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. ( 28209709 )
2017
3
Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa. ( 28294154 )
2017
4
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. ( 28444310 )
2017
5
Variation in Basal Body Localisation and Targeting of Trypanosome RP2 and FOR20 Proteins. ( 28822909 )
2017
6
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. ( 28854704 )
2017
7
Reaction Mechanism of Guanosine Triphosphate Hydrolysis by the Vision-Related Protein Complex Arl3-RP2. ( 27043216 )
2016
8
A Novel Electrophototrophic Bacterium Rhodopseudomonas palustris Strain RP2, Exhibits Hydrocarbonoclastic Potential in Anaerobic Environments. ( 27462307 )
2016
9
Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. ( 25422369 )
2015
10
X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish. ( 26134862 )
2015
11
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. ( 26358772 )
2015
12
Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. ( 26383048 )
2015
13
Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. ( 26034134 )
2015
14
A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family. ( 24479636 )
2014
15
An alternative model for the role of RP2 protein in flagellum assembly in the African trypanosome. ( 24257747 )
2014
16
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. ( 23745007 )
2013
17
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
18
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins. ( 22884633 )
2012
19
Positional cloning of rp2 QTL associates the P450 genes CYP6Z1, CYP6Z3 and CYP6M7 with pyrethroid resistance in the malaria vector Anopheles funestus. ( 22948188 )
2012
20
Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. ( 21282572 )
2011
21
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. ( 21738648 )
2011
22
Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2. ( 21285245 )
2011
23
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. ( 18376416 )
2008
24
Gene symbol: RP2. ( 17598203 )
2007
25
Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. ( 16310188 )
2006
26
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. ( 16472755 )
2006
27
1H, 13C and 15N resonance assignments of the C-terminal domain of RP2. ( 16456705 )
2006
28
Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2. ( 12037013 )
2002
29
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients. ( 11826029 )
2002
30
CTGF (IGFBP-rP2) is specifically expressed in malignant lymphoblasts of patients with acute lymphoblastic leukaemia (ALL). ( 10952780 )
2000
31
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). ( 10520237 )
1999
32
Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. ( 10502575 )
1999
33
Connective tissue growth factor (IGFBP-rP2) expression and regulation in cultured bovine endothelial cells. ( 10098490 )
1999
34
Positional cloning of the gene for X-linked retinitis pigmentosa 2. ( 9697692 )
1998
35
A 29-kilodalton Golgi soluble N-ethylmaleimide-sensitive factor attachment protein receptor (Vti1-rp2) implicated in protein trafficking in the secretory pathway. ( 9705316 )
1998
36
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2. ( 9286280 )
1997
37
The miti-mere and pdm1 genes collaborate during specification of the RP2/sib lineage in Drosophila neurogenesis. ( 7623801 )
1995
38
The Drosophila miti-mere gene, a member of the POU family, is required for the specification of the RP2/sibling lineage during neurogenesis. ( 8050358 )
1994
39
The temperate phages RP2 and RP3 of Streptomyces rimosus. ( 8254321 )
1993
40
X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype. ( 1464493 )
1992
41
Evolution of messenger RNA structure and regulation in the genus Mus: the androgen-inducible RP2 mRNAs. ( 1766361 )
1991
42
Molecular genetics of androgen-inducible RP2 gene transcription in the mouse kidney. ( 2710112 )
1989
43
Amino acid sequence of the testosterone-regulated mouse kidney RP2 protein deduced from its complementary DNA sequence. ( 3755524 )
1986
44
Characterization and persistence of actinophage RP2 isolated from Streptomyces rimosus ATCC 10970. ( 541659 )
1979
45
An investigation of acid-soluble nuclear proteins of human leucocytes in relation to fraction RP2-L, a component of neoplastic cells. ( 16742605 )
1968
46
Isolation and purification of RP2-L, a nuclear protein fraction of the Walker 256 carcinosarcoma. ( 13875101 )
1962
47
Binding of RP2-L--a nuclear protein of neoplastic tissues--to deoxyribonucleic acid. ( 13875352 )
1961

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 cytoplasm GO:0005737 9.73 ARL3 PRICKLE3 RP2 RPGR TBCD TNPO1
2 cell projection GO:0042995 9.54 ARL3 RP2 RPGR
3 microtubule organizing center GO:0005815 9.33 ARL3 RPGR TBCD
4 ciliary basal body GO:0036064 9.32 RP2 RPGR
5 centrosome GO:0005813 9.26 ARL3 PRICKLE3 RPGR TBCD
6 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 9.43 RP2 RPGR
2 protein transport GO:0015031 9.43 ARL3 RP2 TNPO1
3 cilium assembly GO:0060271 9.4 ARL3 RPGR
4 cell projection organization GO:0030030 9.37 PRICKLE3 RPGR
5 protein folding GO:0006457 9.32 RP2 TBCD
6 intraciliary transport GO:0042073 9.16 ARL3 RPGR
7 post-Golgi vesicle-mediated transport GO:0006892 8.96 ARL3 RP2
8 post-chaperonin tubulin folding pathway GO:0007023 8.62 RP2 TBCD

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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