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  Domain Name: ABC_Class2
ATP-binding cassette domain of non-transporter proteins. ABC-type Class 2 contains systems involved in cellular processes other than transport. These families are characterized by the fact that the ABC subunit is made up of duplicated, fused ABC modules (ABC2). No known transmembrane proteins or domains are associated with these proteins.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 41
Total Disease Mutations Found: 20
This domain occurred 30 times on human genes (61 proteins).



  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
  COLORECTAL CANCER, HEREDITARY, NONPOLYPOSIS, TYPE 1
  CONE-ROD DYSTROPHY 3, INCLUDED
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
  STARGARDT DISEASE 1
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
  TANGIER DISEASE


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 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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