Retinitis Pigmentosa 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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.

Sources

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:

Sources

Symptoms & Phenotypes for Retinitis Pigmentosa 2

Human phenotypes related to Retinitis Pigmentosa 2:

³⁰ (show all 12)

#	Description	HPO 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

Sources

Drugs & Therapeutics for Retinitis Pigmentosa 2

Search Clinical Trials, NIH Clinical Center for Retinitis Pigmentosa 2

Cochrane evidence based reviews: retinitis pigmentosa 2

Sources

Genetic Tests for Retinitis Pigmentosa 2

Genetic tests related to Retinitis Pigmentosa 2:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 2 ²⁸	RP2

Sources

Anatomical Context for Retinitis Pigmentosa 2

Organs/tissues related to Retinitis Pigmentosa 2:

MalaCards : Retina, Eye, Bone

Sources

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	Schwahn U...Berger W	9697692	1998
2	Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. ⁵⁷ ⁵	Miano MG...Ciccodicola A	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	Chapple JP...Cheetham ME	10942419	2000
4	Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. ⁵⁷ ⁵	Mears AJ...Swaroop A	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	Fujinami K...Japan Eye Genetics Consortium Study Group	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	Grayson C...Cheetham ME	12417528	2002
7	X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation? ⁶² ⁵⁷	Friedrich U...Jorgensen AL	8225316	1993
8	X-linked retinitis pigmentosa: new map studies of XLRP2, and a possible human centromere effect. ⁶² ⁵⁷	Friedrich U...Andreasson S	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	Marinakis NM...Traeger-Synodinos J	34008892	2021
10	Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. ⁵	Maggi J...Berger W	33546218	2021
11	A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). ⁵	Sharon D...Perlman I	31456290	2020
12	X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers. ⁵	Kurata K...Hotta Y	30917587	2019
13	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. ⁵	Jespersgaard C...Gronskov K	30718709	2019
14	Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ⁵	Stone EM...Tucker BA	28559085	2017
15	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁵	Carss KJ...Raymond FL	28041643	2017
16	Visual Function in Carriers of X-Linked Retinitis Pigmentosa. ⁵⁷	Comander J...Berson EL	26143542	2015
17	Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. ⁵	Schwarz N...Hardcastle AJ	25292197	2015
18	Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? ⁵⁷	Delphin N...Rozet JM	22126752	2012
19	RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. ⁵	Jayasundera T...Heckenlively JR	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	Pelletier V...Rozet JM	16969763	2007
21	Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. ⁵	Jin ZB...Nao-i N	17093403	2006
22	Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? ⁵	Vorster AA...Greenberg LJ	15032968	2004
23	RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. ⁵⁷	Sharon D...Berson EL	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	Bader I...Meitinger T	12657579	2003
25	A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. ⁵	Breuer DK...Swaroop A	11992260	2002
26	Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. ⁵⁷	Grover S...Ryan J	11772598	2002
27	Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein. ⁵⁷	Schwahn U...Berger W	11371510	2001
28	Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. ⁵	Mashima Y...Oguchi Y	11262649	2001
29	X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. ⁵	Sharon D...Dryja TP	10937588	2000
30	A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. ⁵⁷	Grover S...Lindeman M	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	Hardcastle AJ...Bhattacharya S	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	Thiselton DL...Hardcastle AJ	8938433	1996
33	Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. ⁵⁷	Aldred MA...Wright AF	7853368	1994
34	XLPRA: a canine retinal degeneration inherited as an X-linked trait. ⁵⁷	Acland GM...Aguirre GD	7977457	1994
35	Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. ⁵⁷	Teague PW...Brock DJ	8023838	1994
36	Phenotype-genotype correlations in X linked retinitis pigmentosa. ⁵⁷	Kaplan J...Lefrancois P	1357178	1992
37	Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. ⁵⁷	Wright AF...Evans HJ	1895315	1991
38	Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. ⁵⁷	Coleman M...Davies K	2239970	1990
39	Clinical and genetic heterogeneity in retinitis pigmentosa. ⁵⁷	Kaplan J...Dufier JL	2227956	1990
40	Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. ⁵⁷	Chen JD...Denton M	2570529	1989
41	Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. ⁵⁷	Weber JL...May PE	2916582	1989
42	A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. ⁵⁷	Litt M...Luty JA	2563634	1989
43	Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255). ⁵⁷	Meitinger T...Craig IW	2921039	1989
44	Report of the committee on linkage and gene order. ⁵⁷	Keats B...Conneally M	2791656	1989
45	Linkage analysis of X linked retinitis pigmentosa in the Irish population. ⁵⁷	Farrar GJ...Humphries P	3163380	1988
46	Abnormal axonemes in X-linked retinitis pigmentosa. ⁵⁷	Hunter DG...Kretzer FL	3345154	1988
47	X-linked retinitis pigmentosa. Profile of clinical findings. ⁵⁷	Fishman GA...Derlacki DJ	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	Wright AF...Bird AC	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	Clayton JF...Bhattacharya SS	2876947	1986
50	A study of retinitis pigmentosa in the city of Birmingham. ⁵⁷	Bundey S...Crews SJ	3712401	1986

Sources

Genes for Retinitis Pigmentosa 2

Genes related to Retinitis Pigmentosa 2 (1 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RP2	RP2 Activator Of ARL3 GTPase	Protein Coding	1360.14	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name (show sections)	9697692 10053026 10090907 (more) 10937588 10942419 11262649 11462235 11992260 12657579 15032968 17093403 20625056 25292197 28041643 28559085 30718709 30917587 31456290 32875684 33546218 34008892
2	ARL3	ADP Ribosylation Factor Like GTPase 3	Protein Coding	16.43	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
3	TBCC	Tubulin Folding Cofactor C	Protein Coding	15.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
4	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	14.64	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	KIF17	Kinesin Family Member 17	Protein Coding	7.38	DISEASES inferred ¹⁴
6	TNPO1	Transportin 1	Protein Coding	6.97	DISEASES inferred ¹⁴
7	ARL2	ADP Ribosylation Factor Like GTPase 2	Protein Coding	6.91	DISEASES inferred ¹⁴
8	UNC119	Unc-119 Lipid Binding Chaperone	Protein Coding	6.85	DISEASES inferred ¹⁴
9	ARL13B	ADP Ribosylation Factor Like GTPase 13B	Protein Coding	6.77	DISEASES inferred ¹⁴
10	ARL13A	ADP Ribosylation Factor Like GTPase 13A	Protein Coding	6.52	DISEASES inferred ¹⁴
11	TBCD	Tubulin Folding Cofactor D	Protein Coding	6.47	DISEASES inferred ¹⁴
12	PDE6D	Phosphodiesterase 6D	Protein Coding	6.44	DISEASES inferred ¹⁴
13	TBCCD1	TBCC Domain Containing 1	Protein Coding	6.39	DISEASES inferred ¹⁴
14	UNC119B	Unc-119 Lipid Binding Chaperone B	Protein Coding	6.35	DISEASES inferred ¹⁴
15	IFT20	Intraflagellar Transport 20	Protein Coding	6.22	DISEASES inferred ¹⁴
16	CEP290	Centrosomal Protein 290	Protein Coding	6.16	DISEASES inferred ¹⁴
17	ARF4	ADP Ribosylation Factor 4	Protein Coding	6	DISEASES inferred ¹⁴
18	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	5.96	DISEASES inferred ¹⁴
19	TBCB	Tubulin Folding Cofactor B	Protein Coding	5.96	DISEASES inferred ¹⁴
20	PROSER2-AS1	PROSER2 Antisense RNA 1	RNA Gene	5.76	DISEASES inferred ¹⁴
21	RHO	Rhodopsin	Protein Coding	5.63	DISEASES inferred ¹⁴
22	DNAAF9	Dynein Axonemal Assembly Factor 9	Protein Coding	5.6	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Retinitis Pigmentosa 2

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

Sources

Pathways for Retinitis Pigmentosa 2

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

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.35	UNC119B TNPO1 RP2 PDE6D KIF17 IFT20
2	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁶ Show member pathways Carboxyterminal post-translational modifications of tubulin ⁶⁶ Cellular proteostasis ⁷⁴ Folding of actin by CCT/TriC ⁶⁶ Formation of tubulin folding intermediates by CCT/TriC ⁶⁶ Initiation of Nuclear Envelope (NE) Reformation ⁶⁶ Nuclear Envelope (NE) Reassembly ⁶⁶ Post-chaperonin tubulin folding pathway ⁶⁶ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁶ Sealing of the nuclear envelope (NE) by ESCRT-III ⁶⁶	12.12	TNPO1 TBCD TBCC TBCB ARL2
3	Chaperonin-mediated protein folding ⁶⁶ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁶ Protein folding ⁶⁶	12.06	TBCD TBCC TBCB ARL2
4	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.76	PDE6D CEP290 ARL3 ARL13B
5	Cargo trafficking to the periciliary membrane ⁶⁶ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁶ BBSome-mediated cargo-targeting to cilium ⁶⁶ Trafficking of myristoylated proteins to the cilium ⁶⁶ VxPx cargo-targeting to cilium ⁶⁶	11.65	ARF4 ARL13B ARL3 PDE6D RP2 UNC119B
6	Intraflagellar transport ⁶⁶	11.28	TNPO1 KIF17 IFT20
7	Joubert syndrome ⁷⁴	11.04	UNC119 RP2 PDE6D CEP290 ARL3 ARL2
8	RAS processing ⁶⁶	10.86	PDE6D ARL2

Sources

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

Sources for Retinitis Pigmentosa 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Retinitis Pigmentosa 2 (RP2)

Aliases & Classifications for Retinitis Pigmentosa 2

MalaCards integrated aliases for Retinitis Pigmentosa 2:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 2

Related Diseases for Retinitis Pigmentosa 2

Diseases in the Retinitis Pigmentosa family:

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

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

Symptoms & Phenotypes for Retinitis Pigmentosa 2

Human phenotypes related to Retinitis Pigmentosa 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Retinitis Pigmentosa 2:

Drugs & Therapeutics for Retinitis Pigmentosa 2

Cochrane evidence based reviews: retinitis pigmentosa 2

Genetic Tests for Retinitis Pigmentosa 2

Genetic tests related to Retinitis Pigmentosa 2:

Anatomical Context for Retinitis Pigmentosa 2

Organs/tissues related to Retinitis Pigmentosa 2:

Publications for Retinitis Pigmentosa 2

Articles related to Retinitis Pigmentosa 2:

Genes for Retinitis Pigmentosa 2

Genes related to Retinitis Pigmentosa 2 (1 elite genes):

Variations for Retinitis Pigmentosa 2

ClinVar genetic disease variations for Retinitis Pigmentosa 2:

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

Expression for Retinitis Pigmentosa 2

Pathways for Retinitis Pigmentosa 2

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

GO Terms for Retinitis Pigmentosa 2

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

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

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

Sources for Retinitis Pigmentosa 2