Retinitis Pigmentosa Genes Annotation

 

 

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Entrez Gene_ID Gene Symbol

Gene

Description

Synonyms

Chromo

some

Uniprot ID Pathways

OMIM

Disorder

1259
CNGA1

 cyclic nucleotide gated channel

alpha 1

RCNC1 |CNCG |CNCG1 |RCNCa |RCNCalpha |CNG-1 |CNG1
4
Rod photoreceptor cGMP-gated channel subunit alpha # CNCG | P29973
468#Rhodopsin phototransduction cascade in retina - the key role of Ca2+ transport
123825#Retinitis pigmentosa, autosomal recessive
1406
CRX
 cone-rod homeobox
CORD2 |CRD |OTX3 |LCA7
19
SwissProt: CORD2 | O43186
468#Rhodopsin phototransduction cascade in retina - the key role of Ca2+ transport
602225#Cone-rod retinal dystrophy-2 [MIM:120970] |Leber congenital amaurosis VII |Retinitis pigmentosa, late-onset dominant [MIM:268000]
6010
RHO
 rhodopsin
RP4 |MGC138311 |Opsin-2 |OPN2 |MGC138309
3
SwissProt: P08100
468#Rhodopsin phototransduction cascade in retina - the key role of Ca2+ transport
180380#Retinitis pigmentosa-4, autosomal dominant |Retinitis pigmentosa, autosomal recessive |Night blindness, congenital stationery, rhodopsin-related
6295
SAG
 S-antigen; retina and pineal gland (arrestin)
S-AG |ARRESTIN |DKFZp686D1084 |S-arrestin |DKFZp686I1383
2
SwissProt: P10523
468#Rhodopsin phototransduction cascade in retina - the key role of Ca2+ transport
181031#Oguchi disease-1 [MIM:258100]
5145
PDE6A
 phosphodiesterase 6A, cGMP-specific, rod, alpha
CGPR-A |PDEA |EC 3.1.4.35
5
SwissProt: P16499
468#Rhodopsin phototransduction cascade in retina - the key role of Ca2+ transport |605#ATP metabolism |606#GTP metabolism
180071#Retinitis pigmentosa, autosomal recessive
5158
PDE6B
 phosphodiesterase 6B, cGMP-specific, rod, beta
rd1 |CSNB3 |RP40 |PDEB |EC 3.1.4.35
4
SwissProt: P35913
468#Rhodopsin phototransduction cascade in retina - the key role of Ca2+ transport |605#ATP metabolism |606#GTP metabolism
180072#Night blindness, congenital stationary, type 3 [MIM:163500] |Retinitis pigmentosa 40
3614
IMPDH1
 IMP (inosine monophosphate) dehydrogenase 1
IMPDH-I |LCA11 |sWSS2608 |RP10 |IMPD |DKFZp781N0678 |IMPD1 |EC 1.1.1.205
7
SwissProt: P20839
607#dGTP/GTP/XTP metabolism
146690#Retinitis pigmentosa-10 [MIM:180105] |Leber congenital amaurosis XI
375298
CERKL
 ceramide kinase-like
RP26
2
SwissProt: Q49MI3
-
608381#Retinitis pigmentosa-26 [MIM:608380]
1258
CNGB1
 cyclic nucleotide gated channel beta 1
CNCG3L |CNG-4 |GARP |CNG4 |GAR1 |RCNC2 |CNGB1B |CNCG2 |CNCG4 |RCNCbeta |RCNCb
16 Swissprot: Q14028 -
600724#Retinitis pigmentosa, autosomal recessive [MIM:268000]
23418
CRB1
 crumbs homolog 1 (Drosophila)
LCA8 |OTTHUMP00000033690 |RP12
1
SwissProt: P82279
-
604210#Retinitis pigmentosa-12, autosomal recessive [MIM:600105] |Leber congenital amaurosis VIII |Pigmented paravenous chorioretinal atrophy [MIM:172870]
10416
MERTK
 c-mer proto-oncogene tyrosine kinase
MER |C-mer |mer |MGC133349 |c-mer |RP38 |EC 2.7.10.1
2
SwissProt: Q12866
-
604705#Retinitis pigmentosa-38 [MIM:268000]
10002
NR2E3
 nuclear receptor subfamily 2, group E, member 3
rd7 |ESCS |RNR |MGC49976 |PNR
15
SwissProt: Q9Y5X4
-
604485#Enhanced S-cone syndrome [MIM:268100] |Retinitis pigmentosa-37 [MIM:611131]
4901
NRL
 neural retina leucine zipper
OTTHUMP00000027969 |NRL-MAF |D14S46E |OTTHUMP00000164707 |RP27
14
SwissProt: P54845
 
162080#Retinitis pigmentosa-27 |Retinal degeneration, autosomal recessive, clumped pigment type
8842
PROM1
 prominin 1
CD133 |RP41 |AC133 |MSTP061 |hProminin |PROML1
4
SwissProt: O43490
-
604365#Retinitis pigmentosa-41 [MIM:612095]
9129
PRPF3
 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)
HPRP3 |HPRP3P |Prp3p |hPrp3 |OTTHUMP00000014935 |PRP3 |RP18
1
SwissProt: O43395
-
607301#Retinitis pigmentosa-18
26121
PRPF31
 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
DKFZp566J153 |PRP31 |OTTHUMP00000068806 |NY-BR-99 |RP11 |hPrp31
19
SwissProt: Q8WWY3
-
606419#Retinitis pigmentosa-11 [MIM:600138]
10594
PRPF8
 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
PRP8 |HPRP8 |PRPC8 |RP13 |p220
17
SwissProt: Q6P2Q9
-
607300#Retinitis pigmentosa-13 [MIM:600059]
5961
PRPH2
 peripherin 2 (retinal degeneration, slow)
OTTHUMP00000016404 |AOFMD |Tetraspanin-22 |TSPAN22 |PRPH |rd2 |RP7 |RDS |AVMD |Tspan-22
6
SwissProt: P23942
-
179605#Retinitis pigmentosa-7 [MIM:608133] |Retinitis punctata albescens [MIM:136880] |Butterfly dystrophy, retinal [MIM:169150] |Macular dystrophy, vitelliform [MIM:608161] |Foveomacular dystrophy, adult-onset, with choroidal neovascularization [MIM:608161] |Macular dystrophy |Retinitis pigmentosa, digenic [MIM:608133]
6017
RLBP1
 retinaldehyde binding protein 1
MGC3663 |CRALBP
15
SwissProt: P12271
-
180090#Retinitis pigmentosa, AR [MIM:268000] |Fundus albipunctatus [MIM:136880] |Retinitis punctata albescens [MIM:136880] |Newfoundland rod-cone dystrophy [MIM:607476] |Bothnia retinal dystrophy [MIM:607475]
6094
ROM1
 retinal outer segment membrane protein 1
Tetraspanin-23 |TSPAN23 |ROSP1 |ROM |Tspan-23
11
SwissProt: Q03395
-
180721#Retinitis pigmentosa, digenic
6121
RPE65
 retinal pigment epithelium-specific protein 65kDa
mRPE65 |rd12 |OTTHUMP00000010788 |LCA2 |RP20 |p63 |sRPE65
1
SwissProt: Q16518
-
180069#Leber congenital amaurosis-2 [MIM:204100] |Retinitis pigmentosa-20
6103
RPGR
 retinitis pigmentosa GTPase regulator
COD1 |CORDX1 |PCDX |XLRP3 |RP15 |CRD |OTTHUMP00000023140 |orf15 |RP3
X
SwissProt: Q92834
-
312610#Retinitis pigmentosa-3 [MIM:300389] |Cone-rod dystrophy [MIM:300029] |Cone dystrophy-1 [MIM:304020] |Retinitis pigmentosa, X-linked, with recurrent respiratory infections [MIM:300455] |Macular degeneration, X-linked atrophic |Retinitis pigmentosa, X-linked with deafness and sinorespiratory infections [MIM:300455]
10210
TOPORS
 topoisomerase I binding, arginine/serine-rich
p53BP3 |OTTHUMP00000045227 |RP31 |P53BP3 |TP53BPL |LUN |OTTHUMP00000021184 |OTTHUMP00000021182 |EC 6.3.2.-
9
SwissProt: Q9NS56
-
609507#Retinitis pigmentosa-31 [MIM:609923]
7287
TULP1
 tubby like protein 1
RP14 |TUBL1
6
SwissProt: O00294
-
602280#Retinitis pigmentosa-14 [MIM:600132]
7399
USH2A
 Usher syndrome 2A (autosomal recessive, mild)
dJ1111A8.1 |USH2 |usherin |OTTHUMP00000035145 |US2 |RP39 |OTTHUMP00000063383 |USHERIN
1
SwissProt: O75445
-
608400#Usher syndrome, type 2A [MIM:276901] |Retinitis pigmentosa-39 [MIM:268000]