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    NOG noggin [ Homo sapiens (human) ]

    Gene ID: 9241, updated on 23-Nov-2023

    Summary

    Official Symbol
    NOGprovided by HGNC
    Official Full Name
    nogginprovided by HGNC
    Primary source
    HGNC:HGNC:7866
    See related
    Ensembl:ENSG00000183691 MIM:602991; AllianceGenome:HGNC:7866
    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
    NEW
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    Genomic context

    See NOG in Genome Data Viewer
    Location:
    17q22
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (56593699..56595611)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (57469821..57471732)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (54671060..54672972)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268194 Neighboring gene ribosomal protein L39 pseudogene 33 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8738 Neighboring gene MPRA-validated peak2904 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54715538-54716038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54716039-54716539 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:54776085-54777284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8739 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:54863850-54865049 Neighboring gene chromosome 17 open reading frame 67 Neighboring gene Sharpr-MPRA regulatory region 13836 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:54911171-54911768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54912368-54912965 Neighboring gene uncharacterized LOC124904036 Neighboring gene NANOG hESC enhancer GRCh37_chr17:54914856-54915411 Neighboring gene diacylglycerol kinase epsilon

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Brachydactyly type B2
    MedGen: C1969652 OMIM: 611377 GeneReviews: Not available
    Compare labs
    Proximal symphalangism 1A
    MedGen: C3714899 OMIM: 185800 GeneReviews: Not available
    Compare labs
    Stapes ankylosis with broad thumbs 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 2021-01-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-12)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrial cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in axial mesoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation in hindbrain IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cranial skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dorsal/ventral pattern formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic skeletal joint morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in face morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart trabecula morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membranous septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in middle ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in motor neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of astrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cytokine activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neural plate anterior/posterior regionalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural plate morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nodal signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in notochord morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pharyngeal arch artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of branching involved in ureteric bud morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of glomerulus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prostatic bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of fibroblast growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in short-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somatic stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in somite development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ureteric bud formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular compact myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    noggin
    Names
    symphalangism 1 (proximal)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..6913
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005450.6NP_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
      UniProtKB/TrEMBL
      B2RA81
      Related
      ENSP00000328181.4, ENST00000332822.6
      Conserved Domains (1) summary
      pfam05806
      Location:12232
      Noggin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      56593699..56595611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      57469821..57471732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)