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NOG noggin [ Homo sapiens (human) ]

Gene ID: 9241, updated on 9-Jul-2017
Official Symbol
NOGprovided by HGNC
Official Full Name
nogginprovided by HGNC
Primary source
HGNC:HGNC:7866
See related
Ensembl:ENSG00000183691 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
  • Bone Morphogenic Protein (BMP) Signalling and Regulation, organism-specific biosystem (from WikiPathways)
    Bone Morphogenic Protein (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.
  • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
    Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • 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 Receptor Signaling, organism-specific biosystem (from WikiPathways)
    TGF-beta Receptor Signaling, 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
    ENSP00000328181.4, OTTHUMP00000200510, ENST00000332822.4, 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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