MCID: RTN162
MIFTS: 50

Retinitis Pigmentosa 2

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 2

MalaCards integrated aliases for Retinitis Pigmentosa 2:

Name: Retinitis Pigmentosa 2 53 12 71 28 13 14 69
Rp2 53 12 71
X-Linked Retinitis Pigmentosa 2 71
Xlrp-2 71
Xlrp2 71

Characteristics:

OMIM:

53
Inheritance:
x-linked

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


HPO:

31
retinitis pigmentosa 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 53 312600
Disease Ontology 12 DOID:0110415
ICD10 32 H35.5
MedGen 39 C2681923
MeSH 41 D012174
UMLS 69 C2681923

Summaries for Retinitis Pigmentosa 2

OMIM : 53 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 retinitis and retinal degeneration, and has symptoms including cataract, myopia and nyctalopia. An important gene associated with Retinitis Pigmentosa 2 is RP2 (RP2, ARL3 GTPase Activating Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Carboplatin and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include lung, myeloid and b cells.

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

UniProtKB/Swiss-Prot : 71 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 Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 retinitis 30.4 RP2 RPGR
2 retinal degeneration 29.4 RP2 RPGR
3 retinitis pigmentosa 27.8 ARL3 RP2 RPGR TBCE TIMP1 TNPO1
4 retinitis pigmentosa 2, x-linked 12.0
5 cone-rod dystrophy 2 11.0
6 leber congenital amaurosis 4 10.4
7 joubert syndrome 1 9.6 ARL3 RPGR
8 fundus dystrophy 9.6 RP2 RPGR 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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cataract
pigmentary retinopathy
night blindness
retinitis pigmentosa
constricted visual fields
more

Clinical features from OMIM:

312600

Human phenotypes related to Retinitis Pigmentosa 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 myopia 31 HP:0000545
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 pigmentary retinopathy 31 HP:0000580
6 chorioretinal degeneration 31 HP:0200065
7 constriction of peripheral visual field 31 HP:0001133

Drugs & Therapeutics for Retinitis Pigmentosa 2

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

(show top 50) (show all 397)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 38904 498142
2
Cisplatin Approved Phase 2, Phase 3,Phase 1 15663-27-1 2767 441203 84093
3
Gemcitabine Approved Phase 2, Phase 3,Phase 1 95058-81-4 60750
4
Pemetrexed Approved, Investigational Phase 2, Phase 3,Phase 1 150399-23-8, 137281-23-3 60843 446556
5
Azacitidine Approved, Investigational Phase 3,Phase 1,Phase 2 320-67-2 9444
6
Decitabine Approved, Investigational Phase 3,Phase 1,Phase 2 2353-33-5 451668
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
8
leucovorin Approved, Nutraceutical Phase 2, Phase 3,Phase 1 58-05-9 143 6006
9 Antibodies Phase 2, Phase 3,Phase 1
10 Antibodies, Monoclonal Phase 2, Phase 3,Phase 1
11 Anti-Infective Agents Phase 2, Phase 3,Phase 1
12 Antimetabolites Phase 2, Phase 3, Phase 1
13 Antiviral Agents Phase 2, Phase 3,Phase 1
14 Immunoglobulins Phase 2, Phase 3,Phase 1
15 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1
16 Folic Acid Antagonists Phase 2, Phase 3,Phase 1
17 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
18 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
19 Vitamin B Complex Phase 2, Phase 3,Phase 1
20 Folate Nutraceutical Phase 2, Phase 3,Phase 1
21 Vitamin B9 Nutraceutical Phase 2, Phase 3,Phase 1
22
Progesterone Approved, Vet_approved Phase 1, Phase 2 57-83-0 5994
23
Artemether Approved Phase 1, Phase 2 71963-77-4 68911 119380
24
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
25
Ribavirin Approved Phase 1, Phase 2 36791-04-5 37542
26
Sunitinib Approved, Investigational Phase 1, Phase 2 341031-54-7, 557795-19-4 5329102
27
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
28
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
29
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
30
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
31
Dabrafenib Approved, Investigational Phase 1, Phase 2 44462760 44516822
32
Gefitinib Approved, Investigational Phase 1, Phase 2 184475-35-2 123631
33
Cytarabine Approved, Investigational Phase 1, Phase 2 147-94-4 6253
34
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
35
Lomustine Approved, Investigational Phase 1, Phase 2 13010-47-4 3950
36 Ixazomib Approved, Investigational Phase 1, Phase 2 1072833-77-2
37
Melphalan Approved Phase 1, Phase 2 148-82-3 460612 4053
38
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
39
Crizotinib Approved Phase 2,Phase 1 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
40
Dexamethasone Approved, Investigational, Vet_approved Phase 2,Phase 1 50-02-2 5743
41
Palbociclib Approved, Investigational Phase 2,Phase 1 571190-30-2 5330286 11431660 5005498
42
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166
43
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
44
Clofarabine Approved, Investigational Phase 1, Phase 2 123318-82-1 119182
45
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
46
Etoposide Approved Phase 1, Phase 2 33419-42-0 36462
47
Capecitabine Approved, Investigational Phase 1, Phase 2 154361-50-9 60953
48
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239 406563
49
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
50
nivolumab Approved Phase 1, Phase 2 946414-94-4

Interventional clinical trials:

(show top 50) (show all 806)

# Name Status NCT ID Phase Drugs
1 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
2 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 Active, not recruiting NCT02472145 Phase 3 Decitabine 20 mg/m^2;Talacotuzumab 9 mg/kg
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 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
7 A Phase I/IIa Open-Label, Dose Escalation and Cohort Expansion Trial of Oral TSR-011 in Patients With Advanced Solid Tumors and Lymphomas Unknown status NCT02048488 Phase 1, Phase 2 TSR-011
8 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
9 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
10 Study of Bendamustine Hydrochloride for the Treatment of Pediatric Patients With Relapsed or Refractory Acute Leukemia Completed NCT01088984 Phase 1, Phase 2 Bendamustine
11 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
12 BKM120 Combined With Vemurafenib (PLX4032) in BRAFV600E/K Mutant Advanced Melanoma Completed NCT01512251 Phase 1, Phase 2 BKM120 Combined with Vemurafenib (PLX4032)
13 Study of the Safety and Effectiveness of LGH447 and BYL719 in Patients With Relapsed and Refractory Multiple Myeloma Completed NCT02144038 Phase 1, Phase 2 LGH447;BYL719
14 A Phase 1b/2 Study in Asian Subjects With Non-Small Cell Lung Cancer Completed NCT01039948 Phase 1, Phase 2 Gefitinib
15 Use of Ribavirin and Low Dose Ara-C to Treat Acute Myeloid Leukemia Completed NCT01056523 Phase 1, Phase 2 Ribavirin;Cytarabine arabinoside
16 Dasatinib Combination Therapy With the Smoothened (SMO) Inhibitor BMS-833923 in Chronic Myeloid Leukemia (CML) Completed NCT01218477 Phase 1, Phase 2 Dasatinib;BMS-833923
17 Phase Ib/II Study of Buparlisib Plus Carboplatin or Lomustine in Patients With Recurrent Glioblastoma Multiforme Completed NCT01934361 Phase 1, Phase 2 buparlisib;carboplatin;lomustine;placebo
18 Study Evaluating Inotuzumab Ozogamicin In Acute Lymphocytic Leukemia Completed NCT01363297 Phase 2 Inotuzumab Ozogamicin
19 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
20 A Phase Ib/II Study of the Combination of BYL719 Plus AMG 479 in Adult Patients With Selected Solid Tumors Completed NCT01708161 Phase 1, Phase 2 BYL719;AMG 479
21 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
22 A Study of CH5424802/RO5424802 in Patients With ALK-Rearranged Non-Small Cell Lung Cancer Completed NCT01871805 Phase 2 RO5424802;RO5424802
23 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
24 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
25 Combination With Gemcitabine in Advanced Pancreatic Cancer Completed NCT01251640 Phase 1, Phase 2 BAY86-9766+Gemcitabine
26 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
27 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
28 A Phase Ib/2 Clinical Study of Fruquintinib Combined With Paclitaxel in the Treatment of Advanced Gastric Cancer Completed NCT02415023 Phase 1, Phase 2 fruquintinib+paclitaxel
29 Combination of Decitabine and Temozolomide in the Treatment of Patients With Metastatic Melanoma Completed NCT00715793 Phase 1, Phase 2 Decitabine;Temozolomide
30 A Study of Clofarabine in Combination With Etoposide and Cyclophosphamide in Children With Acute Leukemias. Completed NCT00315705 Phase 1, Phase 2 clofarabine;Etoposide;Cyclophosphamide
31 A Phase I-II Study of PAXG in Stage III-IV Pancreatic Adenocarcinoma Completed NCT01730222 Phase 1, Phase 2 cisplatin;capecitabine;gemcitabine;nab-paclitaxel
32 Combination Study Of CP-751,871 With Paclitaxel And Carboplatin In Advanced Lung Cancer Completed NCT00147537 Phase 1, Phase 2 CP-751,871;paclitaxel;carboplatin;CP-751,871;paclitaxel;carboplatin;erlotinib
33 Sorafenib (BAY 43-9006) to Treat Children With Solid Tumors or Leukemias Completed NCT01445080 Phase 1, Phase 2 Sorafenib
34 Study of Oral IXAZOMIB in Combination With Lenalidomide and Dexamethasone in Patients With Newly Diagnosed Multiple Myeloma Completed NCT01383928 Phase 1, Phase 2 IXAZOMIB + Lenalidomide + Dexamethasone
35 Phase 2 Study of Oral IXAZOMIB in Adult Patients With Relapsed and/or Refractory Follicular Lymphoma Completed NCT01939899 Phase 2 IXAZOMIB
36 Study of Eribulin Mesylate in Combination With PEGylated Recombinant Human Hyaluronidase (PEGPH20) Versus Eribulin Mesylate Alone in Subjects With Human Epidermal Growth Factor Receptor 2 (HER2)-Negative, High-Hyaluronan (HA) Metastatic Breast Cancer (MBC Recruiting NCT02753595 Phase 1, Phase 2 Eribulin mesylate;Eribulin mesylate;Eribulin mesylate
37 A Dose Escalation and Cohort Expansion Study of CD122-Biased Cytokine (NKTR-214) in Combination With Anti-PD-1 Antibody (Nivolumab) in Patients With Select Advanced or Metastatic Solid Tumors Recruiting NCT02983045 Phase 1, Phase 2 Combination of NKTR-214 + nivolumab
38 VPM1002BC in Recurrent Non-muscle Invasive Bladder Cancer Recruiting NCT02371447 Phase 1, Phase 2 VPM1002BC
39 Study of HBI-8000 With Nivolumab in Melanoma, Renal Cell Carcinoma and Non-Small Cell Lung Cancer Recruiting NCT02718066 Phase 1, Phase 2 HBI-8000 in combination with nivolumab
40 Copanlisib in Association With Cetuximab in Patients With Recurrent and/or Metastatic Head and Neck Squamous Cell Carcinomas Harboring a PI3KCA Mutation/Amplification and/or a PTEN Loss Recruiting NCT02822482 Phase 1, Phase 2 Copanlisib;Cetuximab
41 L-NMMA Plus Docetaxel in Refractory Locally Advanced or Metastatic Triple Negative Breast Cancer Patients Recruiting NCT02834403 Phase 1, Phase 2 L-NMMA;Docetaxel;Amlodipine;Pegfilgrastim
42 A Study of IMU-131 Plus Standard of Care Chemotherapy in Patients With HER2/Neu Overexpressing Advanced Cancer of the Stomach Recruiting NCT02795988 Phase 1, Phase 2 Cisplatin and either Fluorouracil (5-FU) or Capecitabine
43 A Safety Study to Determine Dose and Tolerability of CC-220 Monotherapy and in Combination With Dexamethasone in Subjects With Relapsed and Refractory Multiple Myeloma Recruiting NCT02773030 Phase 1, Phase 2 CC-220;Dexamethasone
44 Trial of CRLX101, a Nanoparticle Camptothecin With Olaparib in People With Relapsed/Refractory Small Cell Lung Cancer Recruiting NCT02769962 Phase 1, Phase 2 CRLX101;olaparib
45 A Trial of AP32788 in Non-Small Cell Lung Cancer Recruiting NCT02716116 Phase 1, Phase 2 AP32788
46 MLN0128 Compared to Sorafenib in Advanced or Metastatic Hepatocellular Carcinoma Recruiting NCT02575339 Phase 1, Phase 2 MLN0128;MLN0128 (RP2D);Sorafenib
47 IMX-110 in Patients With Advanced Solid Tumors Recruiting NCT03382340 Phase 1, Phase 2 Imx-110
48 A Study of BBI608 Administered in Combination With Immune Checkpoint Inhibitors in Adult Patients With Advanced Cancers Recruiting NCT02467361 Phase 1, Phase 2 BBI608;Ipilimumab;Nivolumab;Pembrolizumab
49 A Study of BBI503 in Combination With Selected Anti-Cancer Therapeutics in Adult Patients With Advanced Cancer Recruiting NCT02483247 Phase 1, Phase 2 BBI503;Capecitabine;Doxorubicin;Nivolumab;Pembrolizumab;Paclitaxel;Sunitinib
50 Phase 1b Study Evaluating Alternative Routes of Administration of CMP-001 in Combination With Pembrolizumab in Subjects With Advanced Melanoma Recruiting NCT03084640 Phase 1, Phase 2 CMP-001;Pembrolizumab

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 28 RP2

Anatomical Context for Retinitis Pigmentosa 2

MalaCards organs/tissues related to Retinitis Pigmentosa 2:

38
Lung, Myeloid, B Cells, Prostate, Brain, Bone, Thyroid

Publications for Retinitis Pigmentosa 2

Articles related to Retinitis Pigmentosa 2:

(show all 17)
# Title Authors Year
1
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. ( 28209709 )
2017
2
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. ( 26358772 )
2015
3
Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. ( 25422369 )
2015
4
X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish. ( 26134862 )
2015
5
Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. ( 26383048 )
2015
6
A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family. ( 24479636 )
2014
7
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. ( 23745007 )
2013
8
Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2. ( 21285245 )
2011
9
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. ( 21738648 )
2011
10
Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. ( 21282572 )
2011
11
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. ( 18376416 )
2008
12
Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. ( 16310188 )
2006
13
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. ( 16472755 )
2006
14
Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. ( 11847227 )
2002
15
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). ( 10520237 )
1999
16
Positional cloning of the gene for X-linked retinitis pigmentosa 2. ( 9697692 )
1998
17
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2. ( 9286280 )
1997

Variations for Retinitis Pigmentosa 2

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

71
# 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
# 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.76C> T (p.Gln26Ter) single nucleotide variant Pathogenic rs104894925 GRCh37 Chromosome X, 46696611: 46696611
3 RP2 NM_006915.2(RP2): c.353G> A (p.Arg118His) single nucleotide variant Pathogenic rs28933687 GRCh37 Chromosome X, 46713161: 46713161
4 RP2 NM_006915.2(RP2): c.453C> G (p.Tyr151Ter) single nucleotide variant Pathogenic rs104894926 GRCh37 Chromosome X, 46713261: 46713261
5 RP2 RP2, 1-BP DEL deletion Pathogenic
6 RP2 NM_006915.2(RP2): c.353G> T (p.Arg118Leu) single nucleotide variant Pathogenic rs28933687 GRCh37 Chromosome X, 46713161: 46713161
7 RP2 RP2, 1-BP INS, 303T insertion Pathogenic
8 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh37 Chromosome X, 46713166: 46713166
9 RP2 NM_006915.2(RP2): c.352delC (p.Arg118Valfs) deletion Pathogenic rs797044507 GRCh37 Chromosome X, 46713160: 46713160
10 RP2 NM_006915.2(RP2): c.593_594delAT (p.Tyr198Cysfs) deletion Pathogenic rs886044897 GRCh37 Chromosome X, 46713401: 46713402

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 cell projection GO:0042995 9.33 ARL3 RP2 RPGR
2 ciliary basal body GO:0036064 8.96 RP2 RPGR
3 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 protein transport GO:0015031 9.43 ARL3 RP2 TNPO1
2 visual perception GO:0007601 9.4 RP2 RPGR
3 cilium assembly GO:0060271 9.37 ARL3 RPGR
4 protein folding GO:0006457 9.32 RP2 TBCE
5 intraciliary transport GO:0042073 9.16 ARL3 RPGR
6 post-Golgi vesicle-mediated transport GO:0006892 8.96 ARL3 RP2
7 post-chaperonin tubulin folding pathway GO:0007023 8.62 RP2 TBCE

Sources for Retinitis Pigmentosa 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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