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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   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   arRP
EYS 6q12 eyes shut/spacemaker (Drosophila) homolog Unknown   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   adCORD, adMD
SNRNP200 2q11.2 small nuclear ribonucleoprotein 200kDa mRNA splicing   adRP
KLHL7 7p15.3 kelch-like 7 protein (Drosophila) Protein degradation   adRP
TOPORS 9p21.1 topoisomerase I binding arginine/serine rich protein mRNA splicing 1 adRP
RD3 1q32.3 protein: RD3 protein Unknown   arLCA
RAX2 19p13.3 retina and anterior neural fold homeobox 2 transcription factor Retina development   CORD
SEMA4A 1q22 Semaphorin 4A Neuronal development   adCORD
RIMS1 6p13 regulating synaptic membrane exocytosis protein Ribbon synapse trafficking   adCORD
CACNA2D4 12p13.33 calcium channel, voltage-dependent, alpha 2/delta subunit 4 Ribbon synapse trafficking   arCOD
CERKL 2q31.3 ceramide kinase-like protein    arRP
AIPL1 17q13.2 arylhydrocarbon-interacting receptor protein-like 1 Chaperone 3.4 arLCA, adCORD
PAP1 7p14.3 PIM-1 kinase mRNA splicing   adRP
ADAM9 8p11.23 ADAM metallopeptidase domain 9 (meltrin gamma) protein Structural: adhesion molecule   CORD
CNNM4 2q11.2 cyclin M4 Neural retina function   Jalili synd.
TRPM1 15q13.3 transient receptor potential cation channel, subfamily M, member 1 (melastatin) Light-evoked response of the inner retina   adCSNB
SPATA7 14q31.3 spermatogenesis associated protein 7 Unknown   arLCA, arRP
TSPAN12 7q31.31 tetraspanin 12 Retinal development   FEVR
OTX2 14q22.3 orthodenticle homeobox 2 protein Retinal development   adLCA
ASCC3L1 2q11.2 activating signal cointegrator 1 complex subunit 3-like 1 Unknown   adRP
CABP4 11q13.1 calcium binding protein 4 Synapsis function   arCORD
USH3A 3q21-q25 clarin-1 Ribbon synapse trafficking   USH
  1. adCORD: autosomal-dominant cone and rod dystrophy; adCSNB: autosomal dominant congenital stationary night blindness adLCA: autosomal dominant Leber's congenital amaurosis; adMD: autosomal-dominant macular dystrophy; adRP: autosomal-dominant retinitis pigmentosa; arCOD: autosomal recessive cone dystrophy; arCORD: autosomal-recessive cone and rod dystrophy; arLCA: autosomal-recessive Leber's congenital amaurosis; arRP: autosomal-recessive retinitis pigmentosa; CORD: cone and rod dystrophy; FEVR: familial exhudative vitreoretinopathy; RP: retinitis pigmentosa; USH: Usher syndrome;