Table S11 Full list of newly characterized candidate disease genes
This
table shows the full list of putative human orthologs of newly characterized, confirmed photoreceptor-enriched genes. 
Gene shows the Unigene number and identity of the confirmed photoreceptor-enriched transcripts. 
Human ortholog shows the accession number of the presumptive human orthologs of the mouse photoreceptor-enriched genes.  Full-length NM numbers are given where available.  If only ESTs match the clone, an accession number for the EST with the longest insert is given.  If the clone matches human genomic DNA only, an NT or AC/AF accession number is given. 
Human chromosomal location indicates the location of the putative human ortholog of the mouse gene in question. 
Retinal disease interval indicates a mapped but uncloned retinal disease gene interval in which the ortholog in the Human chromosomal location column resides.  Abbreviations follow OMIM and Retnet nomenclature.  If two or more disease gene abbreviations separated by a “/” are found, this indicates either that or that a single gene maps in a region in which multiple different mapped but uncloned retinal diseases. 
Notes indicates whether a predicted gene is identified in the interval or other comments about the predicted ortholog.
Gene Human ortholog Human chromosomal location Retinal disease in interval Notes
45390 ESTs  AA565460 14q21.1 ACHM1  
2032 interferon dependent positive acting transcription factor 3 gamma NM_006084 14q11.2 ACHM1
31514 ESTs, Moderately similar to cell growth regulator rCGR19 [R.norvegicus] NM_006568 14q13 ACHM1
28526 ESTs /KIAA0321 FYVE Zn fingers+weak similarity to hrs-2 AB002319 14q21-22 ACHM1
81416 novel retinol dehydrogenase/CGI-82 NM_016026 14q22 ACHM1
3879 hypoxia inducible factor 1, alpha subunit NM_001530 14q23.1 ACHM1
154489 ESTs, Moderately similar to AF094609_1 fertility related protein WMP1 NM_018418 14q31 ACHM1
21761 ESTs, Moderately similar to A56391 lamina associated polypeptide 1C long splice form NM_022347 1q31 ARMD1/AXPC1
45194 ESTs, Moderately similar to unnamed protein product [H.sapiens] NM_015434 1q31 ARMD1/AXPC1
200894 ESTs/KIAA0306 (cytoskeletal) AF130080 1q32.1/22q11.21 AXPC1
103712 ESTs/protein of unknown function AC016192 1q32.1-32.2 AXPC1
32382 Interferon regulatory factor 6 NM_006147 1q32.3 AXPC1
70121 ESTs/novel CaBP AC005849 11q12 BBS1/EVR/VRN1
28896 phosphatidylcholine transfer protein-like AF151810 11q13 BBS1/EVR/VRN1
87450 oxysterol binding protein NM_002556 11q13 BBS1/EVR/VRN1
18522 carnitine palmitoyltransferase 1, liver NM_001876 11q13.1-13.2 BBS1/EVR/VRN1
1532 ESTs/PP1665 NM_030792 11q13.4 BBS1/EVR/VRN1
11678 ESTs NM_024622 2q31 BBS5/RP26
26579 ESTs/weakly similar to spectrin AW590396 2q31.3 BBS5/RP26
3667 vitronectin NM_000638 17q11 CORD4
9001 nemo like kinase NM_016231 17q11.2 CORD4
35060 ESTs/novel IAP AI817054 17q12 CORD4
29055 chromobox HP1 NM_006807 17q21.3 CORD4
152952 ESTs 17q21.31 CORD4 no predicted gene
54993 novel PI PDE XM_053638 17q21.31 CORD4
39855 ESTs/novel sialyltransferase NM_006456 17q25 CORD4
7919 hrs-2 Zn finger SNAP-25 interacting ATPase  AK021483 17q25 CORD4
18516 H3 histone, family 3B NM_005324 17q25.1 CORD4
24594 mitochondrial uncoupling protein 1 NM_021734 17q25.1 CORD4
35108 ESTs/similar to D. unkempt zinc finger protein AB051540 17q25.2-25.3 CORD4
46628 vascular endothelial zinc finger 1 NM_007146 17q29 CORD4
33118 ESTs/novel rdgB2 homolog R22850 17p12-13 CORD5/CACD
12019 ESTs/Na-K ATPase beta 2 subunit NM_001678 17p13.1 CORD5/CACD
27256 discs large homolog 4 NM_001365 17p13.1 CORD5/CACD
54359 Mus musculus APRIL mRNA, complete cds NM_003808 17p13.1 CORD5/CACD
28405 serum/glucocorticoid regulated kinase/hypertonicity activated NM_005627 6q23 CORD7
814 DNA segment, Chr 10, ERATO Doi 398, expressed/4.1G NM_001431 6q23.1 CORD7
28209 Mus musculus p53 apoptosis-associated target (Perp) mRNA/tetraspanin NM_022032 6q24 CORD7
46786 tctex-1 D50663 6q25.2-.3 CORD7/RCD1
86457 ESTs/novel protein kinase/28152 NM_020423 1q24.2 CORD8/ARMD1
23971 dsRNA adenosine deaminase NM_001111 1q21.1-2 CORD8/RP18
1843 heat shock 90kD protein 1, alpha NM_005348 1q21.1-22 CORD8/RP18
32416 ESTs/novel glycosyltransferase AK026684 7p21 CYMD
30069 Tax1BP/interacts with A20 NM_006024 7p15 CYMD/RP9
2389 myeloid/lymphoid or mixed-lineage leukemia NM_005933 11q23 EVR1
24014 ESTs/similar to KIAA1052 AC020997 11q23 EVR1
133032 ESTs AP001150 11q23.3 EVR1
12914 Mus musculus ubiquitin-specific protease UBP41 (Ubp41) NM_004205 11q23-24 EVR1
29730 four jointed box 1 AJ245599 11p13 EVR3
28005  BBS2 NM_031885 16q21 known disease gene
21389 type II deiodinase NM_000793 14q24.2-q24.3 LCA3/ACHM1
90048 estrogen related receptor beta 2 NM_004452 14q24.3 LCA3/ACHM1
45192 ESTs/KCNE2 minK-type K-channel MiRP1 NM_005136 21q22 Long QT syndrome 6
90390 myotubularin-related protein 4/novel FYVE Zn finger phosphatase NM_004687 17q22-q23 Mulibrey nanism
27359 ESTs/nephronopthisis protein NM_000272 2q12.3 nephronopthisis
130902 ESTs/152519 proline-rich protein 19q13.31 OPA3 no predicted gene
68170 Kir2.4 NM_013348 19q13 OPA3
34885 ESTs/Abeta crystallin-related/small HSP-like AC002398 19q13.1-13.2 OPA3
101476 ESTs/40838 Na-dependent inorganic phosphate cotransporter/VGLUT-1 NM_020309 19q13.2-13.3 OPA3
29579 ESTs AB028987 19q13.2-13.3 OPA3
30200 ESTs, Highly  similar to ELECTRON TRANSFER FLAVOPROTEIN BETA-SUBUNIT [Paracoccus denitrificans] NM_001985 19q13.3 OPA3
56990 excision repair 2 AF041410 19q13.3 OPA3
100975 ESTs NT_011190 19q13.3 OPA3 no predicted gene
182462 ESTs 18q12.2 OPA4 no predicted gene
39097 ESTs 18q12.2 OPA4 no predicted gene
25298 signal transducer and activator of transcription 3 interacting protein 1 NM_018255 18q12 OPA4
4471 ESTs/v. weak similarity to prominin? NM_017653 18q12.3 OPA4
4881 granin-like neuroendocrine peptide precursor NM_013271 Xp11.23 PRD/AIED/RP with mental retardation/OPA2
41406 ESTs, Highly similar to KIAA0913 protein [H.sapiens] AB020720 10q21 RNANC
25695 ESTs/bicaudal C (RNA bp) NM_025044 10q21.2 RNANC
27673 ESTs/osteoblast protein/novel glycosyltransferase NM_014888 7q31.3 RP10
38763 ESTs/IMP dehydrogenase 1 NM_000883 7q31.3-32 RP10
27583 ESTs, Weakly similar to ZK1058.5 [C.elegans]/methyltransferase NM_018396 7q31-32 RP10
27359 monocarboxylate transporter 6 NM_004694 17q22 RP17/CORD4
1640 cerebellar degeneration-related 2 M63256 16p12.3 RP22
153895 ESTs Xp22.22 RP23 no predicted gene
87653 ESTs/novel Zn finger AC083776 2q23 RP26
111887 ESTs/protein of unknown function AI277106 2q33-34 RP26
41271 ESTs/similar to phosphotidylcholine transfer protein NM_020151 2p11.2 RP28
23843 ESTs/novel lectin binding protein AK025603 2p16.1 RP28
43603 carboxypeptidase E NM_001873 4q31-32 RP29
1693 high mobility group box 2 AW046897 4q34.1 RP29
30688 ESTs/CMV fusion receptor AF189251 4p15 STG4
74737 ESTs/SOD3 NM_003102 4p15.1 STG4
24309 ESTs/harmartin (tuberous sclerosis 1) NM_000368 9q34 tuberous sclerosis
31170 cyclin K -- Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 NM_003858 14q32 USH1A/ACHM1
29762 taurine/beta-alanine transporter NM_003043 3p25-24 USH2B
63232 ESTs/PR domain containing 8 NM_020226 4q21.2-22.1 WFS2
24430 unc5 homolog (C. elegans) 3 NM_003728 4q21-q23 WFS2
46019 ESTs/FYVE Zn finger and WD-40 domain AI842852 4q22.1 WFS2
27728 ESTs NM_014886 5q12-13 WGN1
150542 ESTs 3q27.1 no predicted gene
695 abl-interactor 1 NM_005470 10p11.2
45237 ESTs, Highly similar to atypical PKC specific binding protein [R.norvegicus] NM_019619 10p11.22
95741 ESTs/Zn finger transcription factor NT_008895 10p11.22-10q11.1 no predicted gene
44123 Similar to hypothetical protein FLJ20186/DAG binding motif/4 LZ/TNFR C-rich motif AI187261 10p11-12
27013 ESTs/voltage-dependent calcium channel beta-2c NM_000724 10p12
34704 interleukin 15 receptor, alpha chain NM_002189 10p15-14
39513 ESTs/KCNMA1 calcium-activated potassium channel NM_002247 10q22
40727 ESTs/novel cadherin AL080188 10q22
134304 ESTs 10q22.1 no predicted gene
22085 Mus musculus ADP-ribosylation factor-like protein 3 (Arl3) mRNA, complete cds NM_004311 10q23.3
19077 ESTs/KIAA1351 rac GTPase related NM_018117 10q26
27698 ESTs/KIAA0140 homolog (putative nuclear protein) NM_014661 10q26
34200 Syntaxin 3A NM_004177 11cen-11q12.3
33944 ESTs/splicing? NM_024113 11p11.2
1915 ESTs NM_024099 11q11
10301 phosphatidylinositol 3-kinase, C2 domain containing, gamma polypeptide NM_004570 12p12.3
29794 Y box bp 3 NM_003651 12p13.1
14099 hematopoetic zinc finger S52506 12q13
183018 ESTs  NM_024056 12q13.1
22440 lifeguard/anti Fas-mediated apoptosis NM_012306 12q13.12
33583 single-strand selective uracil gycosylase (SMUG1) NM_014311 12q13.13
2003 mdm-1 nuclear protein NM_020128 12q14
45565 ESTs/Dyrk2 NM_003583 12q14
22682 ESTs, Moderately  similar to PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE TYPE II [Homo sapiens] XM_031362 12q14.1
152323 ESTs/DRIM NM_014503 12q22-23
193093 PKAbeta T09514 12q24.1
131653 musashi-1 NM_002442 12q24.1-q24.31
47052 similar to testis lipid binding protein NM_024026 13p11.1-q11
43737 M.musculus mRNA for casein kinase I-alpha NM_001892 13q13
21383 ESTs/CGI-145 NM_016075 13q14
43731 KIAA1134 XM_034926 13q14.11
68134 ESTs/novel MAP NM_033255 13q14.12
36545 ESTs/esterase 10 AF112219 13q14.1-2
25715 KIAA0853 NM_015070 13q14.2
41350 ESTs/TED homolog/CAG repeat AI835545 13q33.3
28542 ESTs, Weakly similar to similar to S. cerevisiae hypothetical protein YKL166 [C.elegans] NM_020154 15q11.2
23195 ESTs, Weakly similar to KIAA0377 [H.sapiens] NM_014659 15q13
46489 ESTs/chondroitin 4-sulfotransferase paralog NM_018413 15q14
36894 transcription factor 12/HTF4 NM_003205 15q21
39888 ESTs/KIAA0735 SV2B NM_014848 15q26.1
27029 ESTs NT_010934 16p11.2 no predicted gene
24009 ESTs AI273927 16p13.2
22314 ATP-binding cassette, sub-family A (ABC1), member 3 NM_001089 16p13.3
22358 ESTs, Weakly similar to TFSL_MOUSE TRANSCRIPTION FACTOR S-II-RELATED PROTEIN 3 [M.musculus] NM_016310 16p13.3
23494 ESTs/KIAA0931 AB023148 16q13-21
22758 ESTs/potential steriod isomerase NM_032565 16q21
133990 ESTs/nuclear protein AI611078 16q22
38381 ESTs, Weakly similar to DHBK_MOUSE PUTATIVE STEROID DEHYDROGENASE KIK-I [M.musculus] NM_031463 16q23.3
5185 ESTs NM_016095 16q24
10085 nuclear factor of activated T-cells, cytoplasmic 1 NM_006162 18q23
128183 KIAA0863/homeodomain transcription factor NM_014913 18q23-tel
10780 similar to oligosacharyltransferase STT3 subunit AI620757 19p12-cen
12055 inositol polyphosphate multikinase AA825664 19p13.1
2400 glutathione peroxidase 4 NM_002085 19p13.3
28147 ESTs, Moderately  similar to POLYPOSIS LOCUS PROTEIN 1 [Homo sapiens] BC008201 19p13.3
23739 XAB2/HCNP NM_020196 19p13.3-13.2
6667 single-strand DNA binding protein 3 BC000274 19q11
9086 solute carrier family 16 (monocarboxylic acid transporters), member 1 NM_003051 1p11.2/1p13.1
27496 ubiquitin specific protease 1 NM_003368 1p32.1-31.3
27802 thymic dendritic cell derived factor NM_004872 1p32.1-33
117008 ZNF262 NM_005095 1p32-p34
30038 erythrocyte protein band 4.1 NM_004437 1p33-32
80685 microfibril associated glycoprotein NM_002403 1p33-35
45994 tetraspan 1 NM_005727 1p34.2
41860 ESTs, Weakly similar to collagen type XIV [M.musculus] NM_001856 1p35.1
41877 ESTs, Weakly similar to mCAC [M.musculus] NM_032315 1p35-36
911 high mobility group protein 17 NM_005517 1p36.1
29356 ESTs/isoprenylcyteine carboxylmethyltransferase NM_012405 1p36.21
38993 ESTs/calsyntenin 1 NM_014944 1p36.23
732 dolichyl-phosphate mannosyltransferase polypeptide 3 NM_018973 1p36.23
69049 Mus musculus hypothetical protein mRNA, partial cds/similar to RAD4 NM_015658 1p36.3-tel
89136 H3 histone, family 3A NM_002107 1q41
101833 ESTs/galectin 8 NM_006499 1q42-q43
44868 ESTs/novel protein kinase AL359916 20p13
29477 peroxisome proliferative activated receptor, gamma, coactivator 2 NM_016558 20q11.1-q11.23
29912 ESTs, Moderately similar to molybdopterin synthase sulfurylase [H.sapiens] NM_014484 20q13.13/14q23.1
40297 ESTs/Kv2.1 potassium channel NM_004975 20q13.2
133687 ESTs/similar to OATP-E AK023410 20q13.3-13.2
29001 ESTs, Highly  similar to URACIL PHOSPHORIBOSYLTRANSFERASE [Saccharomyces cerevisiae] NM_017859 20q13.33
29308 protein L-isoaspartate-O-methyltransferase homolog NM_018257 20qtel
143816 poly(rC)-binding protein 3 NM_020528 21q22.3
41269 ESTs/lysophosphatidic acid acyltransferase-gamma1 NM_020132 21q22.3
20872 like-glycosyltransferase NM_004737 22q12.3
41702 Sox11 NM_003108 2p25
117022 AF180470/novel glycosyltransferase NM_014668 2p25.1
28654 ESTs, Weakly similar to CG8195 gene product [D.melanogaster] NM_025181 2q13-14
24149 ESTs/contains G beta repeats NM_025222 3p14
24300 leucine zipper transcription factor NM_020347 3p21.3
30058 amino acid transporter protein NAT-1/histidine+glutamine NM_006841 3p21.3
2240 ESTs, Weakly similar to hypothetical protein [H.sapiens] NM_015407 3p21.31
41744 ESTs/KIAA0795 NM_025010 3p21.3-4
89584 inositol hexakisphosphate kinase 2 NM_016291 3q11.1
71015 protein disulfide isomerase related protein NM_006810 3q21.1
30007 Mus musculus muscleblind mRNA, complete cds NM_021038 3q25
1921 ESTs, Moderately similar to KIAA0826 protein [H.sapiens] AB020633 4q11
69023 ESTs, Weakly similar to KIAA1537 protein [H.sapi/FYVE Zn finger AC009570 4q13
46764 phosphitidate cytidyltransferase NM_001263 4q21
102470 ESTs AI650542 5p15.2
26828 ESTs/erb2-interacting protein ERBIN NM_018695 5q12
38058 ESTs R59486 5q12.1
133603 ESTs/protocadherin gamma C4 NM_018928 5q31
27232 ESTs/novel Zn finger protein NM_016604 5q31.1
36292 ESTs/ubiquitin hydrolyzing enzyme 1 AF022789 5q33-34
34125 ESTs H28739 5q34
2672 mannoside acetylglucosaminyltransferase 1 NM_002406 5q35.3
196081 novel cylophilin/high retinal expression NM_016059 6p21.1
21470 ESTs/similar to UDP-galactose transporter-related protein AI285387 6p21.1
2395 male enhanced antigen 1 NM_014623 6p21.1
45160 ESTs NT_007494 6p21.1-.3 no predicted gene
140496 Fanconi anemia complementation group E homolog NM_021922 6p21.3
29385 protein phosphatase 1, regulatory subunit 10 NM_002714 6p21.3
35016 histocompatibility 2, T region locus 23 NM_002127 6p21.3
38890 ESTs/Daxx NM_001350 6p21.3
139204 ESTs/MHC E-beta 2 6p21.31 exact ortholog unclear
35848 male germ-cell associated kinase AW495430 6p24.1
101118 Ras negative regulator Rabex-5/Rin2 NM_014504 7q11.23
30829 ESTs/cyclin D-binding myb-like transcription factor NM_021145 7q21
28482 ESTs NM_018275 7q22.1
24514 ESTs/rheb2 NM_005614 7q36
5856 Mus musculus BS4 peptide mRNA, complete cds NM_016118 7q36.1
151536 ESTs AF052108 8p21
30556 ESTs AF216674 8p21
37607 ESTs NM_018422 8p21.2
46776 ESTs BG354575 8p21.2
28914 ESTs NM_021174 8p22
34326 ESTs/Zn finger NM_016353 8p22
122087 ESTs AF052108 8p23.1
24117 ESTs, Moderately similar to unnamed protein product [H.sapiens] AK002072 8pter-8p23.3
143811 Mus musculus BETA3 mRNA, complete cds AI498361 8q13
133521 ESTs/zinc finger homeodomain 4 NM_024721 8q21.1
136988 ESTs/novel K channel? NT_023670 8q23 no predicted gene
4063 N-myc downstream regulated 1 NM_006096 8q24
41776 otoconin 90/phospholipase A2-like/ECM Z14310 8q24
57052 GTP-rho binding protein 1 NM_030895 8q24.3
27033 DNA segment, Chr 15, ERATO Doi 81, expressed NM_014066 8q25.3
46606 ESTs, Moderately similar to SECIS binding protein 2 [R.norvegicus] NM_024077 9q21.2
34308 ESTs AI088273 9q21.3
30935 ESTs, Highly similar to tudor repeat associator with PCTAIRE 2 [R.norvegicus] AB025254 9q22.1
27325 Kruppel like factor 4 NM_004235 9q31
17804 ESTs/mCTR2 NM_001860 9q31-32
7331 pre B-cell leukemia transcription factor 3 NM_006195 9q33-34
33875 torsin family 2, member A AA873275 9q34
41649 ESTs/KIAA0515 ubiquitin-like motif? AB011087 9q36-tel
125811 ESTs unknown
102679 ESTs/MPS1 homolog (perforin domain) unknown
116683 ESTs unknown
131592 ESTs unknown
131710 ESTs unknown
133635 ESTs unknown
138316 ESTs unknown
138550 ESTs unknown
150221 EST unknown
150554 EST unknown
151012 ESTs unknown
153891 ESTs/protein phosphatase 4a3 unknown
17613 ESTs/probable SNK/polo-like kinase unknown
18499 ESTs unknown
186013 EST unknown
27057 ESTs unknown
30870 ESTs unknown
30911 ESTs unknown
31161 ESTs unknown
33915 ESTs unknown
34855 ESTs unknown
35159 ESTs unknown
40852 ESTs unknown
44702 ESTs unknown
80063 ESTs unknown
8180 Ly6C unknown
9838 ESTs unknown
41489 protein of unknown function NM_021637 Xq22.1
340 high-mobility group protein 4 NM_005342 Xq28