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Results for the Protein: Q9Y6K9
6685695

NEMO_HUMAN RecName: Full=NF-kappa-B essential modulator; Short=NEMO; AltName: Full=FIP-3; AltName: Full=IkB kinase-associated protein 1; Short=IKKAP1; AltName: Full=Inhibitor of nuclear factor kappa-B kinase subunit gamma; Short=I-kappa-B kinase subunit gamma; Short=IKK-gamma; Short=IKKG; Short=IkB kinase subunit gamma; AltName: Full=NF-kappa-B essential modifier

Known Diseases associated with this Protein:
  AND LYMPHEDEMA
  DYSPLASIA
  ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
  ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY X-LINKED (EDAID)
  ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,
  ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH
  ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
  HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTO
  HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL
  IMMUNODEFICIENCY, NEMO-RELATED, WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA (NEMOID)
  INCONTINENTIA PIGMENTI (IP)
  INCONTINENTIA PIGMENTI, TYPE II
  MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
  RECURRENT ISOLATED INVASIVE PNEUMOCOCCAL DISEASE 2 (IPD2)
  X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS 1 (AMCBX1)
27
1
11
0
17
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NEMO - pfam11577


Swiss-Prot Protein: Q9Y6K9
Identical to: NP_003630, NP_001093327
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NEMOpfam115772.3e-3444111

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011322Diseasep.ALA288GLYEctodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)
Swiss-ProtVAR_042666Diseasep.ALA323PROIncontinentia pigmenti (IP)
Swiss-ProtVAR_031960Diseasep.ARG319GLNX-linked familial atypical micobacteriosis 1 (AMCBX1)
Swiss-ProtVAR_031958Diseasep.ARG173GLYRecurrent isolated invasive pneumococcal disease 2 (IPD2)
Swiss-ProtVAR_011320Diseasep.ARG175PROEctodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)
Swiss-ProtVAR_026494Diseasep.ARG123TRPIncontinentia pigmenti (IP)
Swiss-ProtVAR_026493Polymorphismp.ASP113ASNN/A
Swiss-ProtVAR_011323Diseasep.ASP311ASNEctodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)
Swiss-ProtVAR_011324Diseasep.ASP406VALEctodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)
Swiss-ProtVAR_011326Diseasep.CYS417ARGEctodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)
Swiss-ProtVAR_011325Diseasep.CYS417PHEEctodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)
Swiss-ProtVAR_026496Diseasep.CYS417TYRImmunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID)
Swiss-ProtVAR_031959Diseasep.GLU315ALAX-linked familial atypical micobacteriosis 1 (AMCBX1)
Swiss-ProtVAR_026491Diseasep.GLU57LYSIncontinentia pigmenti (IP)
Swiss-ProtVAR_026495Diseasep.LEU153ARGEctodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)
Swiss-ProtVAR_011321Diseasep.LEU227PROEctodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID)
Swiss-ProtVAR_009182Diseasep.MET407VALIncontinentia pigmenti (IP)
OMIM300248.0020 Diseasep.ALA220GLYECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0022 Diseasep.ARG251GLNMYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
OMIM300248.0011 Diseasep.ASP338VALHYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL||DYSPLASIA||ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH
OMIM300248.0009 Diseasep.CYS349ARGECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTO
OMIM300248.0010 Diseasep.CYS349PHEECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0015 Diseasep.GLN335TERECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0021 Diseasep.GLU247ALAMYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
OMIM300248.0007 Diseasep.GLU323TERECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0014 Diseasep.LEU85ARGECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0005 Diseasep.MET339VALINCONTINENTIA PIGMENTI, TYPE II
OMIM300248.0002 Diseasep.TER352TRPECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,||AND LYMPHEDEMA



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