Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q9BX67
51701611

JAM3_HUMAN RecName: Full=Junctional adhesion molecule C; Short=JAM-C; AltName: Full=JAM-2; AltName: Full=Junctional adhesion molecule 3; Short=JAM-3; Flags: Precursor

Known Diseases associated with this Protein:
  AND CATARACTS
  HEMORRHAGIC DESTRUCTION OF THE BRAIN WITH SUBEPENDYMAL CALCIFICATION AND CATARACTS (HDBSCC)
  HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,
5
1
3
1
2
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:

IG_like - smart00410
IG - smart00409
V-set - pfam07686
IgV - cd00099
IGv - smart00406
Ig - cd00096
Ig2_Robo - cd05724
I-set - pfam07679
Ig3_NCAM-1_like - cd05730
Ig4_Contactin-2-like - cd05728
Ig2_FGFRL1-like - cd05856
Ig2_FGFR_like - cd05729
Ig1_Robo - cd07693
Ig2_FGFR - cd05857
IGc2 - smart00408
Ig3_Peroxidasin - cd05745
ig - pfam00047
Ig2_PTK7 - cd05760
Ig3_L1-CAM_like - cd05731


Swiss-Prot Protein: Q9BX67
Identical to: NP_116190
   Default View:



















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Igcd000965.1e-0749132
Ig2_Robocd057243.1e-08137237
Ig3_NCAM-1_likecd057300.00056141240
Ig4_Contactin-2-likecd057280.00055144237
Ig2_FGFR_likecd057293.8e-06145242
Ig2_FGFRL1-likecd058560.00098145237
Ig1_Robocd076938e-05146238
Ig2_FGFRcd058570.00053148237
Ig3_Peroxidasincd057450.00027153237
Igcd000966.3e-13156236
Ig2_PTK7cd057609.3e-07156242
Ig3_L1-CAM_likecd057310.0002164232
igpfam000471.9e-08153221
IGsmart004095.2e-1038136
IG_likesmart004105.2e-1038136
V-setpfam076860.000140139
IGvsmart004060.0001648117
I-setpfam076798e-06139237
IGsmart004094.8e-13145238
IG_likesmart004104.8e-13145238
V-setpfam076860.00011147239
IGc2smart004088.9e-08152226

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069530Diseasep.CYS219TYRHemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC)
Swiss-ProtVAR_069529Diseasep.GLU116LYSHemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC)
dbSNPrs79915781 Polymorphismp.VAL150ALAN/A
OMIM606871.0002 Diseasep.CYS219TYRHEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,||AND CATARACTS
OMIM606871.0003 Diseasep.GLU116LYSHEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,||AND CATARACTS
OMIM606871.0004 Diseasep.MET1ARGHEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,||AND CATARACTS



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258