NOG noggin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Noggin promotes osteogenesis in human adipose-derived mesenchymal stem cells via FGFR2/Src/Akt and ERK signaling pathway.
Title: Noggin promotes osteogenesis in human adipose-derived mesenchymal stem cells via FGFR2/Src/Akt and ERK signaling pathway.
Structural analysis of the interaction between human cytokine BMP-2 and the antagonist Noggin reveals molecular details of cell chondrogenesis inhibition.
Title: Structural analysis of the interaction between human cytokine BMP-2 and the antagonist Noggin reveals molecular details of cell chondrogenesis inhibition.
Noggin-mediated effects on metabolite profiles of microglia and oligodendrocytes after ischemic insult.
Title: Noggin-mediated effects on metabolite profiles of microglia and oligodendrocytes after ischemic insult.
Differential compartmentalization of BMP4/NOGGIN requires NOGGIN trans-epithelial transport.
Title: Differential compartmentalization of BMP4/NOGGIN requires NOGGIN trans-epithelial transport.
Prognostic value of noggin protein expression in patients with resected gastric cancer.
Title: Prognostic value of noggin protein expression in patients with resected gastric cancer.
Noggin is associated with a poor prognosis of gastric cancer by promoting the proliferation of gastric cancer cells via the upregulation of EGFR.
Title: Noggin is associated with a poor prognosis of gastric cancer by promoting the proliferation of gastric cancer cells via the upregulation of EGFR.
Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.
Title: Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.
Noggin regulates foregut progenitor cell programming, and misexpression leads to esophageal atresia.
Title: Noggin regulates foregut progenitor cell programming, and misexpression leads to esophageal atresia.
Multiple synostoses syndrome: Clinical report and retrospective analysis.
Title: Multiple synostoses syndrome: Clinical report and retrospective analysis.
Sp1 promotes dental pulp stem cell osteoblastic differentiation through regulating noggin.
Title: Sp1 promotes dental pulp stem cell osteoblastic differentiation through regulating noggin.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NOG_2549 (e-PCR)
- UniSTS:280866

Nog (e-PCR), detects polymorphism
- UniSTS:186523

PMC316831P1 (e-PCR)
- UniSTS:273052

UniSTS:495034 (e-PCR)
- UniSTS:495034

RH66786 (e-PCR)
- UniSTS:47562

MARC_53900-53901:1151606073:5 (e-PCR)
- UniSTS:508121

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

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Preferred Names: noggin

Names: symphalangism 1 (proximal)

NCBI Reference Sequences (RefSeq)

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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.