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  Domain Name: Ig3_Contactin_like
Third Ig domain of contactin. Ig3_Contactin_like: Third Ig domain of contactins. Contactins are neural cell adhesion molecules and are comprised of six Ig domains followed by four fibronectin type III(FnIII) domains anchored to the membrane by glycosylphosphatidylinositol. The first four Ig domains form the intermolecular binding fragment, which arranges as a compact U-shaped module via contacts between Ig domains 1 and 4, and between Ig domains 2 and 3. Contactin-2 (TAG-1, axonin-1) may play a part in the neuronal processes of neurite outgrowth, axon guidance and fasciculation, and neuronal migration. This group also includes contactin-1 and contactin-5. The different contactins show different expression patterns in the central nervous system. During development and in adulthood, contactin-2 is transiently expressed in subsets of central and peripheral neurons. Contactin-5 is expressed specifically in the rat postnatal nervous system, peaking at about 3 weeks postnatal, and a lack of contactin-5 (NB-2) results in an impairment of neuronal act ivity in the rat auditory system. Contactin-5 is highly expressed in the adult human brain in the occipital lobe and in the amygdala. Contactin-1 is differentially expressed in tumor tissues and may, through a RhoA mechanism, facilitate invasion and metastasis of human lung adenocarcinoma.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 206
Total Disease Mutations Found: 70
This domain occurred 110 times on human genes (231 proteins).



  BLOOD GROUP--OK
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4
  CROUZON SYNDROME
  ESOPHAGEAL CARCINOMA, SOMATIC
  GASTRIC CANCER, SOMATIC, INCLUDED
  GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
  JACKSON-WEISS SYNDROME, INCLUDED
  OSTEOGLOPHONIC DYSPLASIA
  PFEIFFER SYNDROME
  TRIGONOCEPHALY 1
  UROFACIAL SYNDROME 2
  VESICOURETERAL REFLUX 2 (VUR2)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
interdomain interface
dimerization loop










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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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