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  Domain Name: Ig4_Contactin-2-like
Fourth Ig domain of the neural cell adhesion molecule contactin-2 and similar proteins. Ig4_Contactin-2-like: fourth Ig domain of the neural cell adhesion molecule contactin-2. Contactins are comprised of six Ig domains followed by four fibronectin type III (FnIII) domains anchored to the membrane by glycosylphosphatidylinositol. Contactin-2 (aliases TAG-1, axonin-1) facilitates cell adhesion by homophilic binding between molecules in apposed membranes. The first four Ig domains form the intermolecular binding fragment which arranges as a compact U-shaped module by contacts between Ig domains 1 and 4, and domains 2 and 3. It has been proposed that a linear zipper-like array forms, from contactin-2 molecules alternatively provided by the two apposed membranes.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 143
Total Disease Mutations Found: 29
This domain occurred 90 times on human genes (207 proteins).



  AND CATARACTS
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4
  ESOPHAGEAL CARCINOMA, SOMATIC
  GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
  HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
  HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
  JACKSON-WEISS SYNDROME, INCLUDED
  PFEIFFER SYNDROME
  TO
  VESICOURETERAL REFLUX 2 (VUR2)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
domain-domain interface










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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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