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Aliases for NOG Gene

Aliases for NOG Gene

  • Noggin 2 3
  • Symphalangism 1 (Proximal) 2 3
  • SYNS1 3 6
  • SYM1 3 6
  • Synostoses (Multiple) Syndrome 1 2

External Ids for NOG Gene

Previous HGNC Symbols for NOG Gene

  • SYNS1
  • SYM1

Previous GeneCards Identifiers for NOG Gene

  • GC17P054405
  • GC17P057152
  • GC17P055013
  • GC17P055146
  • GC17P055147
  • GC17P052026
  • GC17P054671
  • GC17P050031

Summaries for NOG Gene

Entrez Gene Summary for NOG Gene

  • 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]

GeneCards Summary for NOG Gene

NOG (Noggin) is a Protein Coding gene. Diseases associated with NOG include multiple synostoses syndrome 1 and tarsal-carpal coalition syndrome. Among its related pathways are Signaling by GPCR and Cardiac Progenitor Differentiation. GO annotations related to this gene include protein homodimerization activity and cytokine binding.

UniProtKB/Swiss-Prot for NOG Gene

  • Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 (PubMed:21976273).

Gene Wiki entry for NOG Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOG Gene

Genomics for NOG Gene

Regulatory Elements for NOG Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NOG Gene

Start:
56,593,699 bp from pter
End:
56,595,590 bp from pter
Size:
1,892 bases
Orientation:
Plus strand

Genomic View for NOG Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NOG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOG Gene

Proteins for NOG Gene

  • Protein details for NOG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13253-NOGG_HUMAN
    Recommended name:
    Noggin
    Protein Accession:
    Q13253
    Secondary Accessions:

    Protein attributes for NOG Gene

    Size:
    232 amino acids
    Molecular mass:
    25774 Da
    Quaternary structure:
    • Homodimer. Interacts with GDF5; inhibits chondrocyte differentiation.

    Three dimensional structures from OCA and Proteopedia for NOG Gene

neXtProt entry for NOG Gene

Proteomics data for NOG Gene at MOPED

Post-translational modifications for NOG Gene

  • Glycosylation at Asn62
  • Modification sites at PhosphoSitePlus

Other Protein References for NOG Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for NOG Gene

Domains for NOG Gene

Protein Domains for NOG Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NOG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13253

UniProtKB/Swiss-Prot:

NOGG_HUMAN :
  • Q13253
Family:
  • Belongs to the noggin family.
genes like me logo Genes that share domains with NOG: view

No data available for Gene Families for NOG Gene

Function for NOG Gene

Molecular function for NOG Gene

GENATLAS Biochemistry: noggin,Spemann organizer,binding and inactivating BMP4 and other TGFB family members,involved in the joint formation and in skeletogenesis
UniProtKB/Swiss-Prot Function: Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 (PubMed:21976273).

LifeMap Function Summary for NOG Gene

During embryonic development, NOG as signaling molecule is secreted from the following cells
It affects the following cells:

Gene Ontology (GO) - Molecular Function for NOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19804412
GO:0019955 cytokine binding IPI 8752214
GO:0042803 protein homodimerization activity IDA 11562478
genes like me logo Genes that share ontologies with NOG: view
genes like me logo Genes that share phenotypes with NOG: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NOG

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NOG Gene

Localization for NOG Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOG Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOG Gene COMPARTMENTS Subcellular localization image for NOG gene
Compartment Confidence
extracellular 5
cytoskeleton 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for NOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 11562478
genes like me logo Genes that share ontologies with NOG: view

Pathways for NOG Gene

genes like me logo Genes that share pathways with NOG: view

Pathways by source for NOG Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for NOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001501 skeletal system development TAS 10080184
GO:0001649 osteoblast differentiation ISS --
GO:0001655 urogenital system development --
GO:0001657 ureteric bud development --
genes like me logo Genes that share ontologies with NOG: view

Compounds for NOG Gene

(18) Novoseek inferred chemical compound relationships for NOG Gene

Compound -log(P) Hits PubMed IDs
cyclopamine 59.9 1
retinoic acid 41.6 11
cystine 23.2 5
heparan sulfate 5.86 4
retinoid 4.62 3
genes like me logo Genes that share compounds with NOG: view

Transcripts for NOG Gene

mRNA/cDNA for NOG Gene

(2) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NOG Gene

Noggin:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NOG

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOG Gene

No ASD Table

Relevant External Links for NOG Gene

GeneLoc Exon Structure for
NOG
ECgene alternative splicing isoforms for
NOG

Expression for NOG Gene

mRNA expression in normal human tissues for NOG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NOG Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (4.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NOG Gene

SOURCE GeneReport for Unigene cluster for NOG Gene Hs.248201

genes like me logo Genes that share expressions with NOG: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NOG Gene

Orthologs for NOG Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOG 35
  • 99.14 (n)
  • 99.57 (a)
NOG 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NOG 35
  • 95.98 (n)
  • 97.84 (a)
NOG 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOG 35
  • 92.32 (n)
  • 88.94 (a)
NOG 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nog 35
  • 93.82 (n)
  • 99.14 (a)
Nog 16
Nog 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOG 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nog 35
  • 93.68 (n)
  • 99.14 (a)
chicken
(Gallus gallus)
Aves NOG 35
  • 79.17 (n)
  • 85.65 (a)
NOG 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOG 36
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia nog-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nog 35
  • 70.7 (n)
  • 81.4 (a)
zebrafish
(Danio rerio)
Actinopterygii NOG (1 of 3) 36
  • 61 (a)
OneToMany
nog1 35
  • 67.35 (n)
  • 65.82 (a)
nog1 36
  • 59 (a)
OneToMany
nog3 36
  • 61 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for NOG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NOG Gene

ENSEMBL:
Gene Tree for NOG (if available)
TreeFam:
Gene Tree for NOG (if available)

Paralogs for NOG Gene

No data available for Paralogs for NOG Gene

Variants for NOG Gene

Sequence variations from dbSNP and Humsavar for NOG Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1236187 -- 56,595,032(-) aaaaa(A/G)GTTCA utr-variant-3-prime
rs1348322 -- 56,595,225(-) TCTTT(G/T)GCTTA utr-variant-3-prime
rs1442829 -- 56,595,002(-) GGGGG(G/T)GGAAC utr-variant-3-prime
rs28937580 Pathogenic, Brachydactyly B2 (BDB2), Symphalangism, proximal 1A (SYM1A) 56,594,326(+) TCCGC(C/G/T)CGGCA reference, missense
rs34644995 -- 56,592,950(+) TGTGT(-/GT)ATATA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NOG Gene

Variant ID Type Subtype PubMed ID
nsv833494 CNV Gain 17160897
esv2672462 CNV Deletion 23128226

Relevant External Links for NOG Gene

HapMap Linkage Disequilibrium report
NOG
Human Gene Mutation Database (HGMD)
NOG
Locus Specific Mutation Databases (LSDB)
NOG

PCR Panel Products

  • Copy Number PCR Panels: for NOG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOG Gene

Disorders for NOG Gene

(5) OMIM Diseases for NOG Gene (602991)

UniProtKB/Swiss-Prot

NOGG_HUMAN
  • Symphalangism, proximal 1A (SYM1A) [MIM:185800]: A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. {ECO:0000269 PubMed:10080184, ECO:0000269 PubMed:11846737, ECO:0000269 PubMed:11857750, ECO:0000269 PubMed:15770128}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple synostoses syndrome 1 (SYNS1) [MIM:186500]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. {ECO:0000269 PubMed:10080184, ECO:0000269 PubMed:20503332}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tarsal-carpal coalition syndrome (TCC) [MIM:186570]: Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families. {ECO:0000269 PubMed:11545688}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]: Congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism. {ECO:0000269 PubMed:12089654}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brachydactyly B2 (BDB2) [MIM:611377]: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. {ECO:0000269 PubMed:17668388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(24) Novoseek inferred disease relationships for NOG Gene

Disease -log(P) Hits PubMed IDs
symphalangism, proximal 93.9 13
syns1 92.3 6
fibrodysplasia ossificans progressiva 77.2 7
brachydactyly, type b 77.1 2
synostosis 72.6 7

Relevant External Links for NOG

Genetic Association Database (GAD)
NOG
Human Genome Epidemiology (HuGE) Navigator
NOG
genes like me logo Genes that share disorders with NOG: view

Publications for NOG Gene

  1. Identification of mammalian noggin and its expression in the adult nervous system. (PMID: 7666191) Valenzuela D.M. … Yancopoulos G.D. (J. Neurosci. 1995) 2 3 4 23
  2. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. (PMID: 10080184) Gong Y. … Warman M.L. (Nat. Genet. 1999) 2 3 4 23
  3. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. (PMID: 11545688) Dixon M.E. … Bamshad M. (Genet. Med. 2001) 2 3 4 23
  4. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. (PMID: 11846737) Takahashi T. … Takada G. (Clin. Genet. 2001) 3 4 23
  5. Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. (PMID: 11857750) Mangino M. … Dallapiccola B. (Hum. Mutat. 2002) 3 4 23

Products for NOG Gene

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