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NOG noggin

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Brachydactyly type B2
MedGen: C1969652OMIM: 611377GeneReviews: Not available
See labs
Cushing's symphalangism
MedGen: C1861385OMIM: 185800GeneReviews: Not available
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Stapes ankylosis with broad thumb and toes
MedGen: C1866656OMIM: 184460GeneReviews: Not available
See labs
Symphalangism-brachydactyly syndrome
MedGen: C0342282OMIM: 186500GeneReviews: Not available
See labs
Tarsal carpal coalition syndrome
MedGen: C1861305OMIM: 186570GeneReviews: Not available
See 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

Genomic context

Location:
17q22
Sequence:
Chromosome: 17; NC_000017.11 (56593699..56595590)
Total number of exons:
1

Links

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