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Results for the Protein: P11161
33112654

EGR2_HUMAN RecName: Full=E3 SUMO-protein ligase EGR2; AltName: Full=AT591; AltName: Full=Early growth response protein 2; Short=EGR-2; AltName: Full=Zinc finger protein Krox-20

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 1D (CMT1D)
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, INCLUDED
  DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
  DEJERINE-SOTTAS SYNDROME (DSS)
  NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING (CHN)
  NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
  NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE
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6
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7
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Default View:

DUF3446 - pfam11928
ZnF_C2H2 - smart00355




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_C2H2smart003551e-06340364
ZnF_C2H2smart003550.00088370392
ZnF_C2H2smart003550.00049398420

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_029958Diseasep.ARG381CYSCharcot-Marie-Tooth disease 1D (CMT1D)
Swiss-ProtVAR_009875Diseasep.ARG381HISCharcot-Marie-Tooth disease 1D (CMT1D)
Swiss-ProtVAR_009874Diseasep.ARG359TRPDejerine-Sottas syndrome (DSS)
Swiss-ProtVAR_007738Diseasep.ARG409TRPCharcot-Marie-Tooth disease 1D (CMT1D)
Swiss-ProtVAR_029959Diseasep.ASP383TYRCharcot-Marie-Tooth disease 1D (CMT1D)
Swiss-ProtVAR_007736Diseasep.ASP355VALCharcot-Marie-Tooth disease 1D (CMT1D)
Swiss-ProtVAR_007735Diseasep.ILE268ASNNeuropathy, congenital hypomyelinating or amyelinating (CHN)
OMIM129010.0004 Diseasep.ARG359TRPDEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT||CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, INCLUDED
OMIM129010.0002 Diseasep.ARG409TRPCHARCOT-MARIE-TOOTH DISEASE, TYPE 1D
OMIM129010.0003 Diseasep.ASP383TYRNEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
OMIM129010.0005 Diseasep.GLU412LYSDEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
OMIM129010.0001 Diseasep.ILE268ASNNEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE
OMIM129010.0003 Diseasep.SER382ARGNEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT



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