Results for the protein: Q15466

Results for the Protein: Q15466

9978744

8431

NR0B2

NCBI, UniProt

NR0B2_HUMAN RecName: Full=Nuclear receptor subfamily 0 group B member 2; AltName: Full=Orphan nuclear receptor SHP; AltName: Full=Small heterodimer partner

Known Diseases associated with this Protein:
OBESITY, MILD, EARLY-ONSET

2

6

2

1

5

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: NR_LBD_HNF4_like - cd06931 NR_LBD_COUP-TF - cd06948 NR_LBD_RXR_like - cd06943 NR_LBD_ER_like - cd07068 NR_LBD_SHP - cd07349 NR_LBD_Dax1 - cd07350 NR_LBD_Dax1_like - cd06951 NR_LBD_Ftz-F1_like - cd06944 NR_LBD_Tlx_PNR_like - cd06950 NR_LBD_TR2_like - cd06952 NR_LBD_F1 - cd06929 NR_LBD_F2 - cd06930 NR_LBD - cd06157 HOLI - smart00430 Hormone_recep - pfam00104	Swiss-Prot Protein: Q15466 Identical to: NP_068804 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NR_LBD_COUP-TF	cd06948	3.2e-10	20	257
NR_LBD_RXR_like	cd06943	2e-05	22	239
NR_LBD_ER_like	cd07068	0.00016	24	256
NR_LBD_Ftz-F1_like	cd06944	3.3e-05	32	257
NR_LBD_Dax1_like	cd06951	4.3e-153	32	252
NR_LBD_SHP	cd07349	3e-183	32	254
NR_LBD_Dax1	cd07350	5.5e-51	32	256
NR_LBD_Tlx_PNR_like	cd06950	1.7e-12	38	243
NR_LBD_TR2_like	cd06952	3e-08	39	256
NR_LBD_F1	cd06929	0.00047	49	235
NR_LBD_F2	cd06930	2.7e-69	52	227
NR_LBD	cd06157	2.6e-10	53	227
Hormone_recep	pfam00104	6.7e-26	83	253
HOLI	smart00430	1.1e-17	59	227

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026017	Polymorphism	p.ALA195SER	N/A
Swiss-Prot	VAR_026018	Polymorphism	p.ARG213CYS	N/A
Swiss-Prot	VAR_026019	Polymorphism	p.ARG216HIS	N/A
Swiss-Prot	VAR_026015	Polymorphism	p.ARG57TRP	N/A
dbSNP	rs6659176	Polymorphism	p.GLY171ALA	N/A
Swiss-Prot	VAR_026016	Polymorphism	p.GLY189GLU	N/A
OMIM	604630.0002	Disease	p.ALA195SER	OBESITY, MILD, EARLY-ONSET
OMIM	604630.0001	Disease	p.ARG34TER	OBESITY, MILD, EARLY-ONSET

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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