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. Author manuscript; available in PMC: 2024 Feb 1.
Published in final edited form as: Hum Genet. 2023 May 16;142(7):927–947. doi: 10.1007/s00439-023-02570-0

Table 1.

Top 90 proteins with enriched expression in mouse E14.5 retina and retinal pigment epithelium combined tissue as compared to WB

Rank UniProt Gene Name Uniprot Accession Primary Protein Name Associated Retina or Eye Defects References
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)