NOG Chromosome 17

Noggin

39 variants 39 Health Risk

Upload your DNA to see your personal genotypes for variants in NOG.

What This Gene Does

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 (8)

NOG-related disorder

Tarsal-carpal coalition syndrome

Brachydactyly type B2

Proximal symphalangism 1A

Symphalangism-brachydactyly syndrome

Stapes ankylosis with broad thumbs and toes

Inborn genetic diseases

NOG-related-symphlangism spectrum disorder

Key Variants

RS1018505000

Conflicting classifications of pathogenicity

Health Risk

RS104894610

Conflicting classifications of pathogenicity

Tarsal-carpal coalition syndrome, Tarsal-carpal coalition syndrome, Brachydactyly type B2

Health Risk

RS199566527

Conflicting classifications of pathogenicity

Health Risk

RS104894615

Likely pathogenic

Symphalangism-brachydactyly syndrome, Inborn genetic diseases, Symphalangism-brachydactyly syndrome

Health Risk

Health Risk

Brachydactyly type B2, NOG-related disorder, Brachydactyly type B2

Health Risk

RS1567745111

Likely pathogenic

Proximal symphalangism 1A, Proximal symphalangism 1A

Health Risk

Health Risk

Proximal symphalangism 1A, Proximal symphalangism 1A

Health Risk

Health Risk

Health Risk

Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes

Health Risk

All Variants (39)

RSID	Category	Clinical Significance	Conditions
RS1018505000	Health Risk	Conflicting classifications of pathogenicity	NOG-related disorder, NOG-related disorder
RS104894610	Health Risk	Conflicting classifications of pathogenicity	Tarsal-carpal coalition syndrome, Tarsal-carpal coalition syndrome, Brachydactyly type B2
RS199566527	Health Risk	Conflicting classifications of pathogenicity	NOG-related disorder, NOG-related disorder
RS104894615	Health Risk	Likely pathogenic	Symphalangism-brachydactyly syndrome, Inborn genetic diseases, Symphalangism-brachydactyly syndrome
RS1064796941	Health Risk	Likely pathogenic	—
RS121908949	Health Risk	Likely pathogenic	Brachydactyly type B2, NOG-related disorder, Brachydactyly type B2
RS1567745111	Health Risk	Likely pathogenic	Proximal symphalangism 1A, Proximal symphalangism 1A
RS1597920017	Health Risk	Likely pathogenic	—
RS2145567535	Health Risk	Likely pathogenic	Proximal symphalangism 1A, Proximal symphalangism 1A
RS2545137784	Health Risk	Likely pathogenic	NOG-related disorder, NOG-related disorder
RS2545137806	Health Risk	Likely pathogenic	—
RS2545137857	Health Risk	Likely pathogenic	Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes
RS2545137863	Health Risk	Likely pathogenic	NOG-related disorder, NOG-related disorder
RS104894603	Health Risk	Pathogenic	Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS104894608	Health Risk	Pathogenic	Proximal symphalangism 1A, Proximal symphalangism 1A
RS104894609	Health Risk	Pathogenic	Proximal symphalangism 1A, Proximal symphalangism 1A
RS104894612	Health Risk	Pathogenic	Proximal symphalangism 1A, Proximal symphalangism 1A
RS104894613	Health Risk	Pathogenic	Proximal symphalangism 1A, Proximal symphalangism 1A
RS104894614	Health Risk	Pathogenic	Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes
RS121908948	Health Risk	Pathogenic	Proximal symphalangism 1A, Proximal symphalangism 1A
RS1354515769	Health Risk	Pathogenic	NOG-related-symphlangism spectrum disorder, NOG-related-symphlangism spectrum disorder
RS1567745119	Health Risk	Pathogenic	Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS1597919829	Health Risk	Pathogenic	Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS2052465606	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2052469986	Health Risk	Pathogenic	—
RS2052470053	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2052471344	Health Risk	Pathogenic	—
RS2145567008	Health Risk	Pathogenic	Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS2145567621	Health Risk	Pathogenic	NOG-related disorder, NOG-related disorder
RS2545137908	Health Risk	Pathogenic	—
RS2545137910	Health Risk	Pathogenic	Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes
RS2545137924	Health Risk	Pathogenic	—
RS28937580	Health Risk	Pathogenic	Proximal symphalangism 1A, Brachydactyly type B2, Stapes ankylosis with broad thumbs and toes
RS387906844	Health Risk	Pathogenic	Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS745356934	Health Risk	Pathogenic	Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS749247710	Health Risk	Pathogenic	Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes
RS104894602	Health Risk	Pathogenic/Likely pathogenic	Proximal symphalangism 1A, Tarsal-carpal coalition syndrome, Proximal symphalangism 1A
RS104894611	Health Risk	Pathogenic/Likely pathogenic	Tarsal-carpal coalition syndrome, Proximal symphalangism 1A, Tarsal-carpal coalition syndrome
RS1328705140	Health Risk	Pathogenic/Likely pathogenic	Brachydactyly type B2, Brachydactyly type B2