Table 7 Genes and proteins leading to retinal dystrophies involved in retinal development, mRNA splicing and other functions
From: Retinitis pigmentosa and allied conditions today: a paradigm of translational research
Gene | Location | Protein | Function | % | Type of RP |
|---|---|---|---|---|---|
KCNV2 | 9p24.2 | potasium channel subfamily V member 2 | Ion interchange | Â | arCOD |
IMPDH1 | 7q32.1 | inosine monophosphate dehydrogenase 1 | Nucleotide biosynthesis | 2.5 | adRP, adLCA |
CRX | 19q13.32 | cone-rod otx-like photoreceptor homeobox transcription factor | Retinal development | 1 | adRP, adLCA, arLCA, adCORD |
NRL | 14q11.2 | neural retina leucine zipper | Retinal development | 0.7 | adRP, arRP |
NR2E3 | 15q23 | nuclear receptor subfamily 2 group E3 | Retinal development | Â | arRP |
EYS | 6q12 | eyes shut/spacemaker (Drosophila) homolog | Unknown | Â | arRP |
HPRP3 | 1q21.3 | human homolog of yeast pre-mRNA splicing factor 3 | mRNA splicing | 1 | adRP |
PRPF8 | 17p13.3 | human homolog of yeast pre-mRNA splicing factor C8 | mRNA splicing | 3 | adRP |
PRPF31 | 19q13.42 | human homolog of yeast pre-mRNA splicing factor 31 | mRNA splicing | 8 | adRP |
PROM1 | 4p15.32 | Prominin | Photoreceptor discs development | Â | adCORD, adMD |
SNRNP200 | 2q11.2 | small nuclear ribonucleoprotein 200kDa | mRNA splicing | Â | adRP |
KLHL7 | 7p15.3 | kelch-like 7 protein (Drosophila) | Protein degradation | Â | adRP |
TOPORS | 9p21.1 | topoisomerase I binding arginine/serine rich protein | mRNA splicing | 1 | adRP |
RD3 | 1q32.3 | protein: RD3 protein | Unknown | Â | arLCA |
RAX2 | 19p13.3 | retina and anterior neural fold homeobox 2 transcription factor | Retina development | Â | CORD |
SEMA4A | 1q22 | Semaphorin 4A | Neuronal development | Â | adCORD |
RIMS1 | 6p13 | regulating synaptic membrane exocytosis protein | Ribbon synapse trafficking | Â | adCORD |
CACNA2D4 | 12p13.33 | calcium channel, voltage-dependent, alpha 2/delta subunit 4 | Ribbon synapse trafficking | Â | arCOD |
CERKL | 2q31.3 | ceramide kinase-like protein | Â | Â | arRP |
AIPL1 | 17q13.2 | arylhydrocarbon-interacting receptor protein-like 1 | Chaperone | 3.4 | arLCA, adCORD |
PAP1 | 7p14.3 | PIM-1 kinase | mRNA splicing | Â | adRP |
ADAM9 | 8p11.23 | ADAM metallopeptidase domain 9 (meltrin gamma) protein | Structural: adhesion molecule | Â | CORD |
CNNM4 | 2q11.2 | cyclin M4 | Neural retina function | Â | Jalili synd. |
TRPM1 | 15q13.3 | transient receptor potential cation channel, subfamily M, member 1 (melastatin) | Light-evoked response of the inner retina | Â | adCSNB |
SPATA7 | 14q31.3 | spermatogenesis associated protein 7 | Unknown | Â | arLCA, arRP |
TSPAN12 | 7q31.31 | tetraspanin 12 | Retinal development | Â | FEVR |
OTX2 | 14q22.3 | orthodenticle homeobox 2 protein | Retinal development | Â | adLCA |
ASCC3L1 | 2q11.2 | activating signal cointegrator 1 complex subunit 3-like 1 | Unknown | Â | adRP |
CABP4 | 11q13.1 | calcium binding protein 4 | Synapsis function | Â | arCORD |
USH3A | 3q21-q25 | clarin-1 | Ribbon synapse trafficking | Â | USH |