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  Domain Name: ABCC_SUR2
ATP-binding cassette domain 2 of the sulfonylurea receptor SUR. The SUR domain 2. The sulfonylurea receptor SUR is an ATP binding cassette (ABC) protein of the ABCC/MRP family. Unlike other ABC proteins, it has no intrinsic transport function, neither active nor passive, but associates with the potassium channel proteins Kir6.1 or Kir6.2 to form the ATP-sensitive potassium (K(ATP)) channel. Within the channel complex, SUR serves as a regulatory subunit that fine-tunes the gating of Kir6.x in response to alterations in cellular metabolism. It constitutes a major pharmaceutical target as it binds numerous drugs, K(ATP) channel openers and blockers, capable of up- or down-regulating channel activity.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 139
Total Disease Mutations Found: 65
This domain occurred 23 times on human genes (49 proteins).



  ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  ATRIAL FIBRILLATION, FAMILIAL, 12
  CARDIOMYOPATHY, DILATED, 1O
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, INCLUDED
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3
  CYSTIC FIBROSIS
  DUBIN-JOHNSON SYNDROME
  DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
  PSEUDOXANTHOMA ELASTICUM
  TAP1 DEFICIENCY, SOMATIC
  VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF


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 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
ATP binding site
ABC transporter signature
Walker A/P-loop
Walker B
D-loop
Q-loop/lid
H-loop/switch region
















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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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