Results for the protein: NP

Results for the Protein: NP_057430

7706515

10002

NR2E3

NCBI

photoreceptor-specific nuclear receptor isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  ENHANCED S-CONE SYNDROME
  GOLDMANN-FAVRE SYNDROME, INCLUDED
  RETINITIS PIGMENTOSA 37

4

3

4

3

0

Tips:

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RefSeq Protein: NP_057430

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_DBD_VDR	cd06955	3.5e-16	38	143
NR_DBD_PNR	cd06970	1.5e-71	39	130
NR_DBD_DHR4_like	cd07168	3e-30	39	127
NR_DBD_GCNF_like	cd07169	2.4e-24	39	129
NR_DBD_TLX	cd07163	3.3e-43	41	129
NR_DBD_ERR	cd07170	5.2e-16	41	139
NR_DBD_TR2_like	cd06967	2.6e-34	42	129
NR_DBD_REV_ERB	cd07166	2.3e-29	42	130
NR_DBD_ER	cd07171	7.9e-23	42	124
NR_DBD_AR	cd07173	6.8e-14	42	125
NR_DBD_GR_PR	cd07172	2e-16	43	121
NR_DBD_FXR	cd06962	3.6e-20	44	128
NR_DBD_RXR	cd06956	1.4e-32	45	122
NR_DBD_CAR	cd06966	5.5e-09	45	139
NR_DBD_ROR	cd06968	1.9e-24	45	134
NR_DBD_NGFI-B	cd06969	4.3e-28	45	120
2DBD_NR_DBD1	cd07157	5.3e-10	45	128
NR_DBD_EcR_like	cd06959	5.5e-24	46	119
NR_DBD_TR	cd06961	2.7e-32	46	131
NR_DBD_RAR	cd06964	4.7e-25	46	126
NR_DBD_Ppar	cd06965	1.4e-27	46	131
NR_DBD_like	cd06916	5.4e-45	47	119
NR_DBD_PNR_like_2	cd06957	2.6e-40	47	128
NR_DBD_COUP_TF	cd06958	2.5e-34	47	120
NR_DBD_HNF4A	cd06960	3.1e-37	47	123
NR_DBD_GR_like	cd06963	7.1e-18	47	120
NR_DBD_PNR_like	cd07154	3.3e-46	47	119
NR_DBD_ER_like	cd07155	5e-23	47	122
NR_DBD_VDR_like	cd07156	4.7e-22	47	119
NR_DBD_Ppar_like	cd07158	1e-29	47	119
NR_DBD_EcR	cd07161	8.7e-22	47	135
NR_DBD_PXR	cd07162	9.2e-20	47	132
NR_DBD_PNR_like_1	cd07164	8.1e-38	47	125
NR_DBD_DmE78_like	cd07165	2.7e-33	47	128
NR_DBD_Lrh-1_like	cd07167	1.7e-23	47	138
2DBD_NR_DBD2	cd07179	8.5e-24	47	121
NR_LBD_COUP-TF	cd06948	1.2e-15	173	367
NR_LBD_HNF4_like	cd06931	1.3e-09	174	367
NR_LBD_Ftz-F1_like	cd06944	5.9e-07	174	367
NR_LBD_RXR_like	cd06943	1.3e-12	177	367
NR_LBD_ERR	cd06946	0.00035	181	367
NR_LBD_ER_like	cd07068	5.4e-07	181	367
NR_LBD_DHR4_like	cd06953	0.00027	184	367
NR_LBD_Tlx_PNR_like	cd06950	1.3e-98	192	367
NR_LBD_Dax1_like	cd06951	1e-08	205	367
NR_LBD_Dax1	cd07350	0.001	205	367
NR_LBD_SHP	cd07349	7.4e-06	206	367
NR_LBD_F2	cd06930	6.4e-44	217	367
NR_LBD	cd06157	1.8e-28	218	367
NR_LBD_TR2_like	cd06952	2e-06	219	363
NR_LBD_F1	cd06929	0.00028	221	366
zf-C4	pfam00105	1.7e-36	45	115
Hormone_recep	pfam00104	6.8e-07	248	367
ZnF_C4	smart00399	1.9e-33	46	116
HOLI	smart00430	4.7e-19	224	367

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35004053	Polymorphism	p.ARG366CYS	N/A
dbSNP	rs1805020	Polymorphism	p.GLU140GLY	N/A
dbSNP	rs1805021	Polymorphism	p.MET163THR	N/A
OMIM	604485.0005	Disease	p.ARG311GLN	ENHANCED S-CONE SYNDROME\|\|GOLDMANN-FAVRE SYNDROME, INCLUDED
OMIM	604485.0003	Disease	p.ARG76GLN	ENHANCED S-CONE SYNDROME
OMIM	604485.0002	Disease	p.ARG76TRP	ENHANCED S-CONE SYNDROME
OMIM	604485.0006	Disease	p.GLY56ARG	RETINITIS PIGMENTOSA 37

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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