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 65Â 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 200Â 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 |