1 |
Aldh1a1 |
P24549 |
Retinal dehydrogenase 1 (RALDH 1; RalDH1) |
Expressed throughout development in dorsal retina; Choroidal hypoplasia in mice |
(Fan et al. 2003; Goto et al. 2018; Duester 2022) |
2 |
Tyr |
P11344 |
Tyrosinase |
Retinal defects; optic chiasmatic abnormality in mice |
(Jeffery et al. 1994, 1997) |
3 |
Kera |
O35367 |
Keratocan (KTN) |
- |
|
4 |
Pmel |
Q60696 |
Premelanosome protein |
RPE melanosome shape defect in mice |
(Hellström et al. 2011) |
5 |
Cryge |
Q03740 |
Crystallin γE |
- |
|
6 |
Crybb3 |
Q9JJU9 |
Crystallin βB3, N-terminally processed |
- |
|
7 |
Fras1 |
Q80T14 |
Extracellular matrix protein FRAS1 |
- |
|
8 |
Hmcn1 |
D3YXG0 |
Hemicentin-1 |
AMD (age-related macular degeneration) in human |
(Pras et al. 2015) |
9 |
Crybb1 |
Q9WVJ5 |
Cystallin βB1 |
- |
|
10 |
Nfatc4 |
Q8K120 |
Nuclear factor of activated T-cells, cytoplasmic 4 (NF-ATc4; NFATc4) |
- |
|
11 |
Mylk |
Q6PDN3 |
Myosin light chain kinase, smooth muscle, deglutamylated form |
- |
|
12 |
Rlbp1 |
Q9Z275 |
Retinaldehyde-binding protein 1 |
Retinitis punctatta albescens in human |
(Morimura et al. 1999) |
13 |
Specc1l |
Q2KN98 |
Cytospin-A |
- |
|
14 |
Igdcc4 |
Q9EQS9 |
Immunoglobulin superfamily DCC subclass member 4 |
- |
|
15 |
Crym |
O54983 |
Ketimine reductase mu-crystallin |
- |
|
16 |
Epb41l5 |
Q8BGS1 |
Band 4.1-like protein 5 |
- |
|
17 |
Lig3 |
P97386 |
DNA ligase 3 |
- |
|
18 |
Champ1 |
Q8K327 |
Chromosome alignment-maintaining phosphoprotein 1 |
- |
|
19 |
Tes |
P47226 |
Testin |
- |
|
20 |
Mdc1 |
Q5PSV9 |
Mediator of DNA damage checkpoint 1 |
- |
|
21 |
Hras |
Q61411 |
GTPase HRas, N-terminally processed |
Retinal dystrophy in human |
(Pierpont et al. 2017) |
22 |
Lama5 |
Q61001 |
Laminin subunit α-5 |
Retinal defects; malformation of retina morphology in mice |
(Jones et al. 2020) |
23 |
Frem2 |
Q6NVD0 |
FRAS1-related extracellular matrix protein 2 |
Detected in outer plexiform layer of the retina; mutations associated with Cryptophthalmos in human |
(Zhang et al. 2019) |
24 |
Mfap2 |
P55002 |
Microfibrillar-associated protein 2 (MFAP-2) |
- |
|
25 |
Smarcd1 |
Q61466 |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 |
- |
|
26 |
Egfr |
Q01279 |
Epidermal growth factor receptor |
Retinal cell fate determination |
(Lillien 1995) |
27 |
Heph |
Q9Z0Z4 |
Hephaestin |
Retinal defects; retinal degeneration in mice |
(Hahn et al. 2004) |
28 |
Rai14 |
Q9EP71 |
Ankycorbin |
- |
|
29 |
Tenm3 |
Q9WTS6 |
Teneurin-3 (Ten-3) |
Retinal defects in mouse and zebrafish |
(Leamey et al. 2007) (Antinucci et al. 2013) |
30 |
Nelfe |
P19426 |
Negative elongation factor E (NELF-E) |
- |
|
31 |
Znf326 |
O88291 |
Zinc finger protein 326 |
- |
|
32 |
Crocc |
Q8CJ40 |
Rootletin |
Retinal defects; retinal degeneration in mice |
(Yang et al. 2005) |
33 |
Cadm1 |
Q8R5M8 |
Cell adhesion molecule 1 |
Retinal defects; retinal photoreceptor synapse defects in mice |
(Ribic et al. 2014) |
34 |
Fbln5 |
Q9WVH9 |
Fibulin-5 (FIBL-5) |
Retinal defects; AMD and cutis laxa in human |
(Lotery et al. 2006) (Stone et al. 2004) |
35 |
Wiz |
O88286 |
Widely-interspaced zinc finger motifs |
- |
|
36 |
Cryaa |
P24622 |
Crystallin αA chain |
Retinal neovascularization defects in mice |
(Xu et al. 2015) |
37 |
Znf219 |
Q6IQX8 |
Zinc finger protein 219 |
- |
|
38 |
Gldc |
Q91W43 |
Glycine dehydrogenase (decarboxylating), mitochondrial |
- |
|
39 |
Mex3a |
G3UYU0 |
Mex3 RNA-binding family member A |
- |
|
40 |
Nub1 |
P54729 |
NEDD8 ultimate buster 1 |
- |
|
41 |
Uncharacterized protein FLJ45252 homolog |
Q6PIU9 |
Uncharacterized protein FLJ45252 homolog |
- |
|
42 |
Kif1a |
P33173 |
Kinesin-like protein KIF1A |
- |
|
43 |
Dync2h1 |
Q45VK7 |
Cytoplasmic dynein 2 heavy chain 1 |
Retinal defects; non-syndromic inherited retinal disease in human |
(Vig et al. 2020) |
44 |
Gja1 |
P23242 |
Gap junction alpha-1 protein |
Retinal defects (optic nerve and retinal dysplasia) and other eye defects in human |
(Gabriel et al. 2011) |
45 |
Fbn2 |
Q61555 |
Fibrillin-2 C-terminal peptide |
AMD |
(Ratnapriya et al. 2014) |
46 |
Pcca |
Q91ZA3 |
Propionyl-CoA carboxylase alpha chain, mitochondrial (PCCase subunit alpha) |
- |
|
47 |
Zmym4 |
A2A791 |
Zinc finger MYM-type protein 4 |
- |
|
48 |
Emilin3 |
P59900 |
EMILIN-3 |
- |
|
49 |
Tbl1x |
Q9QXE7 |
Transducin (beta)-like 1 X-linked |
- |
|
50 |
Bcat1 |
P24288 |
Branched-chain-amino-acid aminotransferase, cytosolic (BCAT(c)) |
- |
|
51 |
Niban1 |
Q3UW53 |
Protein Niban 1 |
- |
|
52 |
Ehmt2 |
Q9Z148 |
Histone-lysine N-methyltransferase EHMT2 |
- |
|
53 |
Brd7 |
O88665 |
Bromodomain-containing protein 7 |
- |
|
54 |
Taf15 |
Q8BQ46 |
TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor |
- |
|
55 |
Hspa4l |
P48722 |
Heat shock 70 kDa protein 4L |
- |
|
56 |
Msi1 |
Q61474 |
RNA-binding protein Musashi homolog 1 (Musashi-1) |
Retinal defects; defects in photoreceptor morphogenesis in mice |
(Sundar et al. 2020) |
57 |
Aldh5a1 |
Q8BWF0 |
Succinate-semialdehyde dehydrogenase, mitochondrial |
- |
|
58 |
Strn |
O55106 |
Striatin |
- |
|
59 |
Dido1 |
Q8C9B9 |
Death-inducer obliterator 1 (DIO-1) |
- |
|
60 |
Ctcf |
Q61164 |
Transcriptional repressor CTCF |
Retinal defects; loss of anterior retina in mice; involved in control of chromosome structure |
(Watson et al. 2014) |
61 |
Sptbn2 |
Q68FG2 |
Spectrin beta chain |
- |
|
62 |
Rnmt |
Q9D0L8 |
mRNA cap guanine-N7 methyltransferase |
- |
|
63 |
Cux1 |
P53564 |
Homeobox protein cut-like 1 |
Controls RPGRIP1L, which is associated with loss of photoreceptors and is a modifier of retinal degeneration in cilipathies |
(Khanna et al. 2009; Stratigopoulos et al. 2011) |
64 |
Ephb2 |
P54763 |
EphB2/CTF2 |
Retinal defects; loss of axons in retina/optic nerve in mice |
(Fu and Sretavan 2012) |
65 |
Golga5 |
Q9QYE6 |
Golgin subfamily A member 5 |
- |
|
66 |
Golgb1 |
E9PVZ8 |
Golgi autoantigen, golgin subfamily b, macrogolgin 1 |
- |
|
67 |
Ank2 |
Q8C8R3 |
Ankyrin-2 (ANK-2) |
Retinal defects; defects in the Na/K-ATPase and Na/Ca exchanger in the inner segment of rod photoreceptors in mice |
(Kizhatil et al. 2009b) |
68 |
Snx6 |
Q6P8X1 |
Sorting nexin-6, N-terminally processed |
- |
|
69 |
Srsf2 |
Q62093 |
Serine/arginine-rich splicing factor 2 |
Upregulated in the vitreous in human cases of glaucoma; mutations in 5% patients with Uveal melanoma |
(Mirzaei et al. 2017; Akin-Bali 2021) |
70 |
Smarce1 |
O54941 |
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 |
- |
|
71 |
Hmgn1 |
P18608 |
Non-histone chromosomal protein HMG-14 |
- |
|
72 |
Ptprf |
A2A8L5 |
Receptor-type tyrosine-protein phosphatase F |
- |
|
73 |
Dnajc7 |
Q9QYI3 |
DnaJ homolog subfamily C member 7 |
- |
|
74 |
Pnn |
O35691 |
Pinin |
- |
|
75 |
Mccc2 |
Q3ULD5 |
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCase subunit beta) |
- |
|
76 |
Nipbl |
Q6KCD5 |
Nipped-B-like protein |
- |
|
77 |
Ank3 |
G5E8K5 |
Ankyrin-3 (ANK-3) |
Retinal defects; transport of cyclic nucleotide-gated channels to the plasma membrane of rod outer segments in frog |
(Kizhatil et al. 2009a) |
78 |
Rbp1 |
Q00915 |
Retinol-binding protein 1 |
Retinal defects; defects in organization of nascent outer segment membranes in frog |
(Wang et al. 2010) |
79 |
Yap1 |
P46938 |
Transcriptional coactivator YAP1 (Yes-associated protein 1) |
Retinal defects; retinal pigment epithelium differentiation defects in mice |
(Lu et al. 2020) |
80 |
Smarcc1 |
P97496 |
SWI/SNF complex subunit SMARCC1 |
- |
|
81 |
Utrn |
E9Q6R7 |
Utrophin |
- |
|
82 |
Cald1 |
E9QA15 |
Caldesmon 1 |
- |
|
83 |
Ccar1 |
Q8CH18 |
Cell division cycle and apoptosis regulator protein 1 |
- |
|
84 |
Cttn |
Q60598 |
Src substrate cortactin |
- |
|
85 |
Prrc2c |
Q3TLH4 |
Protein PRRC2C |
- |
|
86 |
Arid1a |
A2BH40 |
AT-rich interactive domain-containing protein 1A (ARID domain-containing protein 1A) |
- |
|
87 |
Cbx1 |
P83917 |
Chromobox protein homolog 1 |
- |
|
88 |
Dcn |
P28654 |
Decorin |
Retinal defects; retinal angiogenic disease including neuronal and vascular defects in mice |
(Lim et al. 2018) |
89 |
Mif |
P34884 |
Macrophage migration inhibitory factor (MIF) |
Associated with proliferative retinopathy in mice |
(Wang et al. 2017) |
90 |
Igf2bp1 |
O88477 |
Insulin-like growth factor 2 mRNA-binding protein 1 (IGF2 mRNA-binding protein 1; IMP-1) |
Retinal defects; retinal ganglion axonal outgrowth and tectal coverage, and retinal cell survival defects in Zebrafish |
(Gaynes et al. 2015) |