RP2
MCID: RTN162
MIFTS: 47

Retinitis Pigmentosa 2 (RP2)

Categories: Bone diseases, Ear diseases, Eye diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Retinitis Pigmentosa 2

MalaCards integrated aliases for Retinitis Pigmentosa 2:

Name: Retinitis Pigmentosa 2 57 11 73 28 5 43 14 71
Rp2 57 11 73 75
X-Linked Retinitis Pigmentosa 2 73
Retinitis Pigmentosa, Type 2 38
Retinitis Pigmentosa-2 12
Xlrp-2 73
Xlrp2 73

Characteristics:


Inheritance:

X-linked 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
some heterozygous females show a blue-yellow color defect


Classifications:



External Ids:

Disease Ontology 11 DOID:0110415
OMIM® 57 312600
OMIM Phenotypic Series 57 PS268000
ICD10 31 H35.5
MedGen 40 C2681923
UMLS 71 C2681923

Summaries for Retinitis Pigmentosa 2

OMIM®: 57 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) (Updated 08-Dec-2022)

MalaCards based summary: Retinitis Pigmentosa 2, also known as rp2, is related to retinitis pigmentosa 13 and night blindness. 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 Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Affiliated tissues include retina, eye and bone, and related phenotypes are high myopia and fundus atrophy

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A retinitis pigmentosa that has material basis in mutation in the RP2 gene on chromosome Xp11.3.

Related Diseases for Retinitis Pigmentosa 2

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 91 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 Retinitis Pigmentosa 86
Retinitis Pigmentosa 88 Retinitis Pigmentosa 89
Retinitis Pigmentosa 90 Retinitis Pigmentosa 92
Retinitis Pigmentosa 93 Retinitis Pigmentosa 95
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 13 31.7 TBCD RP2
2 night blindness 31.5 RPGR RP2 GRK1 CEP290
3 retinitis pigmentosa 3 31.2 RPGR RP2 PDE6D GRK1 ARL2
4 primary ciliary dyskinesia 30.9 RPGR RP2 KIF17 IFT20 CEP290 ARL13B
5 retinal degeneration 30.3 UNC119 RPGR RP2 GRK1 CEP290
6 leber plus disease 30.3 UNC119 RPGR RP2 PDE6D KIF17 IFT20
7 progressive cone dystrophy 30.3 RPGR ARL3
8 cone-rod dystrophy 2 30.1 UNC119 RPGR RP2 PDE6D KIF17 IFT20
9 fundus dystrophy 29.9 UNC119B UNC119 RPGR RP2 PDE6D KIF17
10 cystic kidney disease 29.6 KIF17 IFT20 CEP290 ARL13B
11 polycystic kidney disease 29.5 KIF17 IFT20 CEP290 ARL3 ARL13B
12 situs inversus 29.4 RPGR KIF17 IFT20 CEP290 ARL13B
13 autosomal dominant polycystic kidney disease 29.3 IFT20 CEP290 ARL3 ARL13B ARF4
14 cone dystrophy 29.3 UNC119 RPGR PDE6D GRK1 CEP290 ARL3
15 meckel syndrome, type 1 28.9 RPGR PDE6D KIF17 IFT20 CEP290 ARL3
16 retinitis pigmentosa 28.1 UNC119B UNC119 TNPO1 TBCD TBCCD1 TBCC
17 ciliary dyskinesia, primary, 6 10.9
18 blood group, globoside system 10.9
19 retinitis 10.6
20 peripheral retinal degeneration 10.4
21 joubert syndrome 2 10.2 CEP290 ARL13B
22 macular degeneration, x-linked atrophic 10.2 UNC119B RPGR
23 cone-rod dystrophy 3 10.2 UNC119 RPGR
24 joubert syndrome 15 10.2 PDE6D ARL13A
25 joubert syndrome 24 10.2 CEP290 ARL13B
26 nephronophthisis 12 10.2 RPGR PDE6D KIF17
27 keratomalacia 10.1
28 myopia 10.1
29 nonsyndromic retinitis pigmentosa 10.1
30 nephronophthisis 11 10.1 CEP290 ARL13B
31 joubert syndrome 7 10.1 RPGR PDE6D
32 leber congenital amaurosis 2 10.1 RPGR CEP290
33 joubert syndrome 21 10.1 PDE6D ARL13B ARL13A
34 meckel syndrome, type 4 10.1 CEP290 ARL13A
35 renal-hepatic-pancreatic dysplasia 10.1 CEP290 ARL3
36 turner syndrome 10.1
37 nephronophthisis 19 10.1 RPGR CEP290
38 refractive error 10.0
39 choroid disease 10.0 RPGR CEP290
40 kenny-caffey syndrome 10.0 TBCD TBCC TBCB
41 polycystic kidney disease 4 with or without polycystic liver disease 10.0 IFT20 CEP290 ARL13B
42 hypoparathyroidism-retardation-dysmorphism syndrome 10.0 TBCD TBCB ARL2
43 leber congenital amaurosis 10 10.0 RPGR GRK1 CEP290
44 color blindness 10.0 RPGR GRK1 CEP290
45 bardet-biedl syndrome 4 10.0 IFT20 CEP290
46 retinoschisis 1, x-linked, juvenile 10.0 RPGR GRK1 CEP290
47 vitelliform macular dystrophy 10.0 RPGR GRK1 CEP290
48 ellis-van creveld syndrome 10.0 IFT20 CEP290 ARL13B
49 usher syndrome type 2 10.0 RPGR GRK1 CEP290
50 leber congenital amaurosis 4 10.0

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:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high myopia 30 Very rare (1%) HP:0011003
2 fundus atrophy 30 Very rare (1%) HP:0001099
3 central scotoma 30 Very rare (1%) HP:0000603
4 ring scotoma 30 Very rare (1%) HP:0030529
5 bull's eye maculopathy 30 Very rare (1%) HP:0011504
6 pericentral scotoma 30 Very rare (1%) HP:0007761
7 cataract 30 HP:0000518
8 nyctalopia 30 HP:0000662
9 rod-cone dystrophy 30 HP:0000510
10 pigmentary retinopathy 30 HP:0000580
11 constriction of peripheral visual field 30 HP:0001133
12 chorioretinal degeneration 30 HP:0200065

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
cataract
pigmentary retinopathy
night blindness
retinitis pigmentosa
constricted visual fields
more

Clinical features from OMIM®:

312600 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 ARL13B ARL3 CEP290 GRK1 IFT20 PDE6D

Drugs & Therapeutics for Retinitis Pigmentosa 2

Search Clinical Trials, NIH Clinical Center for Retinitis Pigmentosa 2

Cochrane evidence based reviews: 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

Organs/tissues related to Retinitis Pigmentosa 2:

MalaCards : Retina, Eye, Bone

Publications for Retinitis Pigmentosa 2

Articles related to Retinitis Pigmentosa 2:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Positional cloning of the gene for X-linked retinitis pigmentosa 2. 62 57 5
9697692 1998
2
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. 57 5
11462235 2001
3
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. 57 5
10942419 2000
4
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. 57 5
10053026 1999
5
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. 62 5
32875684 2020
6
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. 62 57
12417528 2002
7
X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation? 62 57
8225316 1993
8
X-linked retinitis pigmentosa: new map studies of XLRP2, and a possible human centromere effect. 62 57
1551673 1992
9
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
10
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 5
33546218 2021
11
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). 5
31456290 2020
12
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers. 5
30917587 2019
13
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 5
30718709 2019
14
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 5
28559085 2017
15
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
16
Visual Function in Carriers of X-Linked Retinitis Pigmentosa. 57
26143542 2015
17
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. 5
25292197 2015
18
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? 57
22126752 2012
19
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. 5
20625056 2010
20
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. 57
16969763 2007
21
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 5
17093403 2006
22
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 5
15032968 2004
23
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. 57
14564670 2003
24
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. 5
12657579 2003
25
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 5
11992260 2002
26
Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. 57
11772598 2002
27
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. 57
11371510 2001
28
Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. 5
11262649 2001
29
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 5
10937588 2000
30
A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. 57
10690843 2000
31
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. 5
10090907 1999
32
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. 57
8938433 1996
33
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. 57
7853368 1994
34
XLPRA: a canine retinal degeneration inherited as an X-linked trait. 57
7977457 1994
35
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. 57
8023838 1994
36
Phenotype-genotype correlations in X linked retinitis pigmentosa. 57
1357178 1992
37
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. 57
1895315 1991
38
Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. 57
2239970 1990
39
Clinical and genetic heterogeneity in retinitis pigmentosa. 57
2227956 1990
40
Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. 57
2570529 1989
41
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. 57
2916582 1989
42
A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. 57
2563634 1989
43
Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255). 57
2921039 1989
44
Report of the committee on linkage and gene order. 57
2791656 1989
45
Linkage analysis of X linked retinitis pigmentosa in the Irish population. 57
3163380 1988
46
Abnormal axonemes in X-linked retinitis pigmentosa. 57
3345154 1988
47
X-linked retinitis pigmentosa. Profile of clinical findings. 57
3257866 1988
48
Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. 57
3477957 1987
49
Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation. 57
2876947 1986
50
A study of retinitis pigmentosa in the city of Birmingham. 57
3712401 1986

Variations for Retinitis Pigmentosa 2

ClinVar genetic disease variations for Retinitis Pigmentosa 2:

5 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RP2 NM_006915.3(RP2):c.16_18del (p.Ser6del) DEL Pathogenic
10544 rs137852284 GRCh37: X:46696550-46696552
GRCh38: X:46837115-46837117
2 RP2 NM_006915.3(RP2):c.76C>T (p.Gln26Ter) SNV Pathogenic
10545 rs104894925 GRCh37: X:46696611-46696611
GRCh38: X:46837176-46837176
3 RP2 NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) SNV Pathogenic
10547 rs104894926 GRCh37: X:46713261-46713261
GRCh38: X:46853826-46853826
4 RP2 NM_006915.3(RP2):c.453del (p.Tyr152Ilefs*4) DEL Pathogenic
10548 GRCh37: X:46713261-46713261
GRCh38: X:46853826-46853826
5 RP2 NM_006915.3(RP2):c.353G>T (p.Arg118Leu) SNV Pathogenic
10549 rs28933687 GRCh37: X:46713161-46713161
GRCh38: X:46853726-46853726
6 RP2 NM_006915.3(RP2):c.333_334del (p.Leu112fs) DEL Pathogenic
1213906 GRCh37: X:46713141-46713142
GRCh38: X:46853706-46853707
7 RP2 NM_006915.3(RP2):c.465_468dup (p.Phe157fs) DUP Pathogenic
1213909 GRCh37: X:46713271-46713272
GRCh38: X:46853836-46853837
8 RP2 NM_006915.3(RP2):c.353G>A (p.Arg118His) SNV Pathogenic
10546 rs28933687 GRCh37: X:46713161-46713161
GRCh38: X:46853726-46853726
9 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter) SNV Pathogenic
10551 rs104894927 GRCh37: X:46713166-46713166
GRCh38: X:46853731-46853731
10 RP2 NM_006915.3(RP2):c.299dup (p.Phe101fs) DUP Pathogenic
871199 rs1924900389 GRCh37: X:46713106-46713107
GRCh38: X:46853671-46853672
11 RP2 NM_006915.3(RP2):c.352C>T (p.Arg118Cys) SNV Pathogenic
437944 rs1556318633 GRCh37: X:46713160-46713160
GRCh38: X:46853725-46853725
12 RP2 NM_006915.3(RP2):c.768+1G>A SNV Pathogenic
1184478 GRCh37: X:46713577-46713577
GRCh38: X:46854142-46854142
13 RP2 NM_006915.3(RP2):c.409_411del (p.Ile137del) DEL Likely Pathogenic
860467 rs1924904597 GRCh37: X:46713217-46713219
GRCh38: X:46853782-46853784
14 RP2 NM_006915.3(RP2):c.969+2T>C SNV Likely Pathogenic
1043015 rs1925392056 GRCh37: X:46737027-46737027
GRCh38: X:46877592-46877592
15 RP2 NM_006915.3(RP2):c.434T>C (p.Phe145Ser) SNV Likely Pathogenic
1213907 GRCh37: X:46713242-46713242
GRCh38: X:46853807-46853807
16 RP2 NM_006915.3(RP2):c.969+3A>C SNV Likely Pathogenic
1299649 GRCh37: X:46737028-46737028
GRCh38: X:46877593-46877593
17 RP2 NM_006915.3(RP2):c.758del (p.Leu253fs) DEL Likely Pathogenic
635480 rs1602347992 GRCh37: X:46713566-46713566
GRCh38: X:46854131-46854131
18 RP2 NM_006915.3(RP2):c.884-9T>A SNV Likely Pathogenic
1048164 rs1428719874 GRCh37: X:46736931-46736931
GRCh38: X:46877496-46877496
19 RP2 NM_006915.3(RP2):c.103-2A>G SNV Likely Pathogenic
1065686 GRCh37: X:46712909-46712909
GRCh38: X:46853474-46853474
20 RP2 NM_006915.3(RP2):c.524A>C (p.His175Pro) SNV Likely Pathogenic
1172693 GRCh37: X:46713332-46713332
GRCh38: X:46853897-46853897
21 RP2 NM_006915.3(RP2):c.768G>C (p.Glu256Asp) SNV Conflicting Interpretations Of Pathogenicity
866167 rs1227276668 GRCh37: X:46713576-46713576
GRCh38: X:46854141-46854141
22 RP2 NM_006915.3(RP2):c.613G>A (p.Glu205Lys) SNV Uncertain Significance
811614 rs138731990 GRCh37: X:46713421-46713421
GRCh38: X:46853986-46853986
23 RP2 NM_006915.3(RP2):c.314G>A (p.Cys105Tyr) SNV Uncertain Significance
587389 rs1569531630 GRCh37: X:46713122-46713122
GRCh38: X:46853687-46853687
24 RP2 NM_006915.3(RP2):c.761T>C (p.Ile254Thr) SNV Uncertain Significance
1331343 GRCh37: X:46713569-46713569
GRCh38: X:46854134-46854134
25 RP2 NM_006915.3(RP2):c.884-14G>A SNV Uncertain Significance
803988 rs1602354996 GRCh37: X:46736926-46736926
GRCh38: X:46877491-46877491
26 RP2 NM_006915.3(RP2):c.844C>T (p.Arg282Trp) SNV Benign
196444 rs1805147 GRCh37: X:46719498-46719498
GRCh38: X:46860063-46860063

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

73
# 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 rs1556318633
10 RP2 p.Cys108Tyr VAR_068353

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
12.35 UNC119B TNPO1 RP2 PDE6D KIF17 IFT20
2
Show member pathways
12.12 TNPO1 TBCD TBCC TBCB ARL2
3
Show member pathways
12.06 TBCD TBCC TBCB ARL2
4
Show member pathways
11.76 PDE6D CEP290 ARL3 ARL13B
5
Show member pathways
11.65 ARF4 ARL13B ARL3 PDE6D RP2 UNC119B
6 11.28 TNPO1 KIF17 IFT20
7 11.04 UNC119 RP2 PDE6D CEP290 ARL3 ARL2
8 10.86 PDE6D ARL2

GO Terms for Retinitis Pigmentosa 2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 10.28 ARL2 ARL3 CEP290 IFT20 RPGR TBCD
2 ciliary basal body GO:0036064 10.07 RPGR RP2 KIF17 IFT20 CEP290
3 microtubule cytoskeleton GO:0015630 10.04 TBCB KIF17 ARL3 ARL2
4 motile cilium GO:0031514 10.02 RPGR IFT20 ARL13B ARL13A
5 cell projection GO:0042995 10.02 ARL13B ARL3 CEP290 GRK1 IFT20 KIF17
6 photoreceptor connecting cilium GO:0032391 9.96 TBCC KIF17 IFT20 CEP290 ARL3
7 photoreceptor outer segment GO:0001750 9.95 RPGR KIF17 IFT20 GRK1
8 microtubule organizing center GO:0005815 9.81 UNC119 TBCD TBCCD1 RPGR KIF17 CEP290
9 cytoskeleton GO:0005856 9.8 ARL2 ARL3 CEP290 IFT20 KIF17 PDE6D
10 periciliary membrane compartment GO:1990075 9.76 RP2 KIF17
11 cilium GO:0005929 9.62 UNC119B TNPO1 RPGR RP2 PDE6D KIF17

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 10.08 TBCD TBCC RP2 ARL2
2 visual perception GO:0007601 10.02 GRK1 PDE6D RP2 RPGR UNC119
3 smoothened signaling pathway GO:0007224 9.99 IFT20 ARL3 ARL13B
4 non-motile cilium assembly GO:1905515 9.97 CEP290 ARL13B ARL13A
5 protein transport GO:0015031 9.93 ARF4 ARL3 CEP290 KIF17 RP2 TNPO1
6 protein localization to cilium GO:0061512 9.88 IFT20 ARL3 ARF4
7 intraciliary transport GO:0042073 9.85 RPGR IFT20 ARL3
8 tubulin complex assembly GO:0007021 9.76 TBCC TBCD
9 receptor localization to non-motile cilium GO:0097500 9.73 ARL13B ARL13A
10 cell projection organization GO:0030030 9.73 UNC119B RPGR KIF17 IFT20 CEP290
11 cilium assembly GO:0060271 9.53 UNC119B RPGR RP2 IFT20 CEP290 ARL3
12 post-chaperonin tubulin folding pathway GO:0007023 9.35 TBCD TBCC RP2

Molecular functions related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.76 RP2 KIF17 GRK1 ARL3 ARL2 ARL13B
2 GTP binding GO:0005525 9.73 RP2 ARL3 ARL2 ARL13B ARL13A ARF4
3 GTPase activity GO:0003924 9.4 TBCC ARL3 ARL2 ARL13B ARL13A ARF4

Sources for Retinitis Pigmentosa 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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