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Results for the Protein: Q9Y5X4
8928275

NR2E3_HUMAN RecName: Full=Photoreceptor-specific nuclear receptor; AltName: Full=Nuclear receptor subfamily 2 group E member 3; AltName: Full=Retina-specific nuclear receptor

Known Diseases associated with this Protein:
  ENHANCED S CONE SYNDROME (ESCS)
  ENHANCED S-CONE SYNDROME
  GOLDMANN-FAVRE SYNDROME, INCLUDED
  RETINITIS PIGMENTOSA 37
  RETINITIS PIGMENTOSA 37 (RP37)
20
10
4
3
23
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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NR_DBD_LXR - cd07160
NR_DBD_VDR - cd06955
NR_DBD_DHR4_like - cd07168
NR_DBD_GCNF_like - cd07169
NR_DBD_PNR - cd06970
NR_DBD_TLX - cd07163
NR_DBD_ERR - cd07170
NR_DBD_AR - cd07173
NR_DBD_ER - cd07171
NR_DBD_TR2_like - cd06967
NR_DBD_REV_ERB - cd07166
NR_DBD_GR_PR - cd07172
NR_DBD_FXR - cd06962
2DBD_NR_DBD1 - cd07157
zf-C4 - pfam00105
NR_DBD_NGFI-B - cd06969
NR_DBD_CAR - cd06966
NR_DBD_RXR - cd06956
NR_DBD_ROR - cd06968
ZnF_C4 - smart00399
NR_DBD_Ppar - cd06965
NR_DBD_RAR - cd06964
NR_DBD_EcR_like - cd06959
NR_DBD_TR - cd06961
NR_DBD_PXR - cd07162
NR_DBD_PNR_like - cd07154
NR_DBD_EcR - cd07161
2DBD_NR_DBD2 - cd07179
NR_DBD_Lrh-1_like - cd07167
NR_DBD_DmE78_like - cd07165
NR_DBD_PNR_like_1 - cd07164
NR_DBD_Ppar_like - cd07158
NR_DBD_PNR_like_2 - cd06957
NR_DBD_like - cd06916
NR_DBD_HNF4A - cd06960
NR_DBD_COUP_TF - cd06958
NR_DBD_GR_like - cd06963
NR_DBD_ER_like - cd07155
NR_DBD_VDR_like - cd07156
NR_LBD_PPAR - cd06932
NR_LBD_EcR - cd06938
NR_LBD_Fxr - cd06936
NR_LBD_ER - cd06949
NR_LBD_COUP-TF - cd06948
NR_LBD_HNF4_like - cd06931
NR_LBD_NGFI-B - cd07348
NR_LBD_DHR38_like - cd07072
NR_LBD_Lrh-1 - cd07069
NR_LBD_Ftz-F1_like - cd06944
NR_LBD_Nurr1_like - cd06945
NR_LBD_Nurr1 - cd07071
NR_LBD_RXR_like - cd06943
NR_LBD_SF-1 - cd07070
NR_LBD_ER_like - cd07068
NR_LBD_ERR - cd06946
NR_LBD_DHR4_like - cd06953
NR_LBD_Tlx_PNR_like - cd06950
NR_LBD_GR_Like - cd06947
NR_LBD_RAR - cd06937
NR_LBD_Dax1_like - cd06951
NR_LBD_Dax1 - cd07350
NR_LBD_SHP - cd07349
NR_LBD_F2 - cd06930
NR_LBD - cd06157
NR_LBD_TR2_like - cd06952
NR_LBD_F1 - cd06929
HOLI - smart00430
Hormone_recep - pfam00104


Swiss-Prot Protein: Q9Y5X4
Identical to: NP_055064
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NR_DBD_LXRcd071603.3e-2219128
NR_DBD_VDRcd069553.5e-1638143
NR_DBD_PNRcd069701.5e-7139130
NR_DBD_DHR4_likecd071683e-3039127
NR_DBD_GCNF_likecd071692.4e-2439129
NR_DBD_ERRcd071705.2e-1641139
NR_DBD_TLXcd071633.3e-4341129
NR_DBD_TR2_likecd069672.6e-3442129
NR_DBD_REV_ERBcd071662.3e-2942130
NR_DBD_ERcd071717.9e-2342124
NR_DBD_ARcd071736.8e-1442125
NR_DBD_GR_PRcd071722e-1643121
NR_DBD_FXRcd069623.6e-2044128
NR_DBD_RXRcd069561.4e-3245122
NR_DBD_CARcd069665.5e-0945139
NR_DBD_RORcd069681.9e-2445134
NR_DBD_NGFI-Bcd069694.3e-2845120
2DBD_NR_DBD1cd071575.3e-1045128
NR_DBD_EcR_likecd069595.5e-2446119
NR_DBD_TRcd069612.7e-3246131
NR_DBD_RARcd069644.7e-2546126
NR_DBD_Pparcd069651.4e-2746131
NR_DBD_likecd069165.4e-4547119
NR_DBD_PNR_like_2cd069572.6e-4047128
NR_DBD_COUP_TFcd069582.5e-3447120
NR_DBD_HNF4Acd069603.1e-3747123
NR_DBD_GR_likecd069637.1e-1847120
NR_DBD_ER_likecd071555e-2347122
NR_DBD_VDR_likecd071564.7e-2247119
NR_DBD_Ppar_likecd071581e-2947119
NR_DBD_EcRcd071618.7e-2247135
NR_DBD_PNR_likecd071543.3e-4647119
NR_DBD_PXRcd071629.2e-2047132
NR_DBD_PNR_like_1cd071648.1e-3847125
NR_DBD_DmE78_likecd071652.7e-3347128
NR_DBD_Lrh-1_likecd071671.7e-2347138
2DBD_NR_DBD2cd071798.5e-2447121
NR_LBD_PPARcd069320.00022130407
NR_LBD_EcRcd069380.001170407
NR_LBD_Fxrcd069360.00019171406
NR_LBD_ERcd069494.4e-06172410
NR_LBD_COUP-TFcd069484.7e-52173410
NR_LBD_HNF4_likecd069311e-33174407
NR_LBD_Ftz-F1_likecd069442.5e-12174409
NR_LBD_Nurr1_likecd069451.9e-06174410
NR_LBD_Lrh-1cd070692.2e-06174410
NR_LBD_DHR38_likecd070720.00029174410
NR_LBD_NGFI-Bcd073484.2e-05174410
NR_LBD_Nurr1cd070710.0001175410
NR_LBD_RXR_likecd069434.1e-18177393
NR_LBD_SF-1cd070701.2e-06179409
NR_LBD_ERRcd069462.3e-09181410
NR_LBD_ER_likecd070684.2e-13181410
NR_LBD_DHR4_likecd069532.2e-07184393
NR_LBD_Tlx_PNR_likecd069509.9e-141192397
NR_LBD_GR_Likecd069470.00064193410
NR_LBD_RARcd069371.6e-05196410
NR_LBD_Dax1_likecd069511.3e-21205406
NR_LBD_Dax1cd073502.4e-10205406
NR_LBD_SHPcd073497.6e-12206408
NR_LBD_F2cd069306e-62217381
NR_LBDcd061574.4e-46218381
NR_LBD_TR2_likecd069523.9e-11219403
NR_LBD_F1cd069292.9e-08221389
zf-C4pfam001051.7e-3645115
Hormone_receppfam001042.4e-47248407
ZnF_C4smart003991.9e-3346116
HOLIsmart004304.7e-36224381

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_020840Diseasep.ALA256GLUEnhanced S cone syndrome (ESCS)
dbSNPrs35004053 Polymorphismp.ARG366CYSN/A
Swiss-ProtVAR_062769Polymorphismp.ARG104GLNN/A
Swiss-ProtVAR_010034Diseasep.ARG311GLNEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_009266Diseasep.ARG76GLNEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_010033Diseasep.ARG309GLYEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_062772Polymorphismp.ARG334GLYN/A
Swiss-ProtVAR_010025Diseasep.ARG97HISEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_010035Diseasep.ARG385PROEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_010026Diseasep.ARG104TRPEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_009267Diseasep.ARG76TRPEnhanced S cone syndrome (ESCS)
dbSNPrs1805020 Polymorphismp.GLU140GLYN/A
Swiss-ProtVAR_010027Diseasep.GLU121LYSEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_037026Diseasep.GLY56ARGRetinitis pigmentosa 37 (RP37)
Swiss-ProtVAR_062770Polymorphismp.GLY287SERN/A
Swiss-ProtVAR_020839Diseasep.GLY88VALEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_020841Diseasep.LEU263PROEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_020842Diseasep.LEU336PROEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_020843Diseasep.LEU353VALEnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_062771Polymorphismp.LYS324ARGN/A
Swiss-ProtVAR_010036Diseasep.MET407LYSEnhanced S cone syndrome (ESCS)
dbSNPrs1805021 Polymorphismp.MET163THRN/A
Swiss-ProtVAR_062768Polymorphismp.SER44LEUN/A
Swiss-ProtVAR_010031Diseasep.TRP234SEREnhanced S cone syndrome (ESCS)
Swiss-ProtVAR_010030Polymorphismp.VAL232ILEN/A
Swiss-ProtVAR_010032Polymorphismp.VAL302ILEN/A
OMIM604485.0005 Diseasep.ARG311GLNENHANCED S-CONE SYNDROME||GOLDMANN-FAVRE SYNDROME, INCLUDED
OMIM604485.0003 Diseasep.ARG76GLNENHANCED S-CONE SYNDROME
OMIM604485.0002 Diseasep.ARG76TRPENHANCED S-CONE SYNDROME
OMIM604485.0006 Diseasep.GLY56ARGRETINITIS PIGMENTOSA 37



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