Skip to main content

Table 3 53 RP-related genes selected for targeted resequencing

From: The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Gene Inheritance RefSeq Cytogenetic Loci Exon Count Description
ABCA4 AR/AD NM_000350 1p22.1 50 ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4)
ARL6 AR NM_177976 3q11.2 9 ADP-ribosylation factor-like 6 (ARL6), transcript variant 2
BEST1 AD NM_001139443 11q12.3 9 bestrophin 1 (BEST1), transcript variant 2
C2ORF71 AR NM_001029883 2p23.2 2 chromosome 2 open reading frame 71 (C2orf71)
CA4 AD NM_000717 17q23.1 8 carbonic anhydrase IV (CA4)
CERKL AR NM_201548 2q31.3 13 ceramide kinase-like (CERKL), transcript variant 1
CLRN1 AR NM_001195794 3q25.1 4 clarin 1 (CLRN1), transcript variant 5
CNGA1 AR NM_001142564 4p12 10 cyclic nucleotide-gated channel alpha 1 (CNGA1), transcript variant 1
CNGB1 AR NM_001297 16q21 33 Homo sapiens cyclic nucleotide-gated channel beta 1 (CNGB1), transcript variant 1
CRB1 AR NM_201253 1q31.3 12 crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1
CRX AD NM_000554 19q13.33 4 cone-rod homeobox (CRX)
DHDDS AR NM_024887 1p36.11 9 Homo sapiens dehydrodolichyl diphosphate synthase (DHDDS), transcript variant 2
EYS AR NM_001142800 6q12 43 eyes shut homolog (Drosophila) (EYS), transcript variant 1
FAM161A AR NM_001201543 2p15 7 family with sequence similarity 161, member A (FAM161A), transcript variant 1
FSCN2 AD NM_001077182 17q25.3 5 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2
GUCA1B AD NM_002098 6p21.1 4 guanylate cyclase activator 1B (retina) (GUCA1B)
IDH3B AR NM_006899 20p13 12 isocitrate dehydrogenase 3 (NAD+) beta (IDH3B), nuclear gene encoding mitochondrial protein, transcript variant 1
IMPDH1 AD NM_000883 7q32.1 17 IMP (inosine 5′-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 1
IMPG2 AR NM_016247 3q12.3 19 interphotoreceptor matrix proteoglycan 2 (IMPG2)
KLHL7 AD NM_001031710 7p15.3 11 kelch-like family member 7 (KLHL7), transcript variant 1
LRAT AR NM_004744 4q32.1 3 lecithin retinol acyltransferase (phosphatidylcholine–retinol O-acyltransferase) (LRAT)
MERTK AR NM_006343 2q13 19 c-mer proto-oncogene tyrosine kinase (MERTK)
NR2E3 AR/AD NM_016346 15q23 8 nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 1
NRL AD NM_006177 14q11.2 3 neural retina leucine zipper (NRL)
PDE6A AR NM_000440 5q32 22 phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A)
PDE6B AR NM_000283 4p16.3 22 phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1
PDE6G AR NM_002602 17q25.3 4 phosphodiesterase 6G, cGMP-specific, rod, gamma (PDE6G), transcript variant 1
PRCD AR NR_033357 17q25.1 5 Homo sapiens progressive rod-cone degeneration (PRCD), transcript variant 2
PROM1 AR NM_006017 4p15.32 27 prominin 1 (PROM1), transcript variant 1
PRPF3 AD NM_004698 1q21.2-q21.3 16 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3)
PRPF31 AD NM_015629 19q13.42 14 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31)
PRPF8 AD NM_006445 17p13.3 43 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8)
PRPH2 AD NM_000322 6p21.1 3 peripherin 2 (retinal degeneration, slow) (PRPH2)
PRPH2-ROM1 digenic NM_000327 11q12.3 3 retinal outer segment membrane protein 1 (ROM1)
RBP3 AR NM_002900 10q11.22 4 retinol binding protein 3, interstitial (RBP3)
RDH12 AR NM_152443 14q24.1 9 Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12)
RGR AR/AD NM_002921 10q23.1 7 G protein coupled receptor (RGR), transcript variant 1
RHO AR/AD NM_000539 3q22.1 5 rhodopsin (RHO)
RLBP1 AR NM_000326 15q26.1 9 retinaldehyde-binding protein 1 (RLBP1)
RP1 AR/AD NM_006269 8q12.1 4 retinitis pigmentosa 1 (autosomal dominant) (RP1)
RP2 X-linked NM_006915 Xp11.23 5 retinitis pigmentosa 2 (X-linked recessive) (RP2)
RP9 AD NM_203288 7p14.3 6 retinitis pigmentosa 9 (autosomal dominant) (RP9)
RPE65 AR NM_000329 1p31.3-p31.2 14 retinal pigment epithelium-specific protein 65 kDa (RPE65)
RPGR X-linked NM_001034853 Xp11.4 15 retinitis pigmentosa GTPase regulator (RPGR), transcript variant C
SAG AR NM_000541 2q37.1 16 S-antigen; retina and pineal gland (arrestin) (SAG)
SEMA4A AR/AD NM_001193300 1q22 15 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 2
SNRNP200 AD NM_014014 2q11.2 45 small nuclear ribonucleoprotein 200 kDa (U5) (SNRNP200)
SPATA7 AR NM_018418 14q31.3 12 spermatogenesis-associated 7 (SPATA7), transcript variant 1
TOPORS AD NM_005802 9p21.1 3 topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1
TTC8 AR NM_144596 14q31.3 15 tetratricopeptide repeat domain 8 (TTC8), transcript variant 1
TULP1 AR NM_003322 6p21.31 15 Tubby-like protein 1 (TULP1)
USH2 / USH2A AR NM_206933 1q41 72 Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2
ZNF513 AR NM_144631 2p23.3 4 zinc finger protein 513 (ZNF513), transcript variant 1