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    NOG noggin [ Homo sapiens (human) ]

    Gene ID: 9241, updated on 22-Sep-2016
    Official Symbol
    NOGprovided by HGNC
    Official Full Name
    nogginprovided by HGNC
    Primary source
    HGNC:HGNC:7866
    See related
    Ensembl:ENSG00000183691 HPRD:04291; MIM:602991; Vega:OTTHUMG00000151770
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SYM1; SYNS1; SYNS1A
    Summary
    The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17q22
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (56593699..56595590)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (54671060..54672951)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and fibronectin type III domain containing 1 Neighboring gene ribosomal protein L39 pseudogene 33 Neighboring gene chromosome 17 open reading frame 67 Neighboring gene diacylglycerol kinase epsilon

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Brachydactyly type B2
    MedGen: C1969652 OMIM: 611377 GeneReviews: Not available
    Compare labs
    Cushing's symphalangism
    MedGen: C1861385 OMIM: 185800 GeneReviews: Not available
    Compare labs
    Stapes ankylosis with broad thumb and toes
    MedGen: C1866656 OMIM: 184460 GeneReviews: Not available
    Compare labs
    Symphalangism-brachydactyly syndrome
    MedGen: C0342282 OMIM: 186500 GeneReviews: Not available
    Compare labs
    Tarsal carpal coalition syndrome
    MedGen: C1861305 OMIM: 186570 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-04-30)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-04-30)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    NHGRI GWA Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    NHGRI GWA Catalog
    Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • BMP signalling and regulation, organism-specific biosystem (from WikiPathways)
      BMP signalling and regulation, organism-specific biosystem"BMP signals are mediated by type I and II BMP receptors and their downstream molecules Smad1, 5 and 8. Phosphorylated Smad1, 5 and 8 proteins form a complex with Smad4 and then are translocated into...
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by BMP, organism-specific biosystem (from REACTOME)
      Signaling by BMP, organism-specific biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...
    • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF Beta Signaling Pathway, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
     
    BMP signaling pathway involved in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    atrial cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axial mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation in hindbrain IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dorsal/ventral pattern formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic skeletal joint morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart trabecula morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    limb development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    membranous septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    middle ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    motor neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of astrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of pathway-restricted SMAD protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neural plate morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    notochord morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pharyngeal arch artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of glomerulus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    prostatic bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    somatic stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somite development IEA
    Inferred from Electronic Annotation
    more info
     
    spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular compact myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    noggin
    Names
    symphalangism 1 (proximal)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011958.1 RefSeqGene

      Range
      5001..6892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005450.4NP_005441.1  noggin precursor

      See identical proteins and their annotated locations for NP_005441.1

      Status: REVIEWED

      Source sequence(s)
      AC015724
      Consensus CDS
      CCDS11589.1
      UniProtKB/Swiss-Prot
      Q13253
      Related
      ENSP00000328181, OTTHUMP00000200510, ENST00000332822, OTTHUMT00000323857
      Conserved Domains (1) summary
      pfam05806
      Location:12232
      Noggin; Noggin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      56593699..56595590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      54735932..54737820
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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