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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NOG Gene

protein-coding   GIFtS: 67
GCID: GC17P054671

Noggin

(Previous names: synostoses (multiple) syndrome 1, symphalangism 1 (proximal))
(Previous symbols: SYNS1, SYM1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
noggin1 2
SYM11 2 5
SYNS11 2 5
Symphalangism 1 (Proximal)1 2
Synostoses (Multiple) Syndrome 11

External Ids:    HGNC: 78661   Entrez Gene: 92412   Ensembl: ENSG000001836917   OMIM: 6029915   UniProtKB: Q132533   

Export aliases for NOG gene to outside databases

Previous GC identifers: GC17P054405 GC17P057152 GC17P055013 GC17P055146 GC17P055147 GC17P052026 GC17P050031


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 tarsal carpal coalition syndrome, and stapes ankylosis with broad thumb and toes, and among its related super-pathways are BMP signalling and regulation and Factors Promoting Cardiogenesis in Vertebrates. GO annotations related to this gene include cytokine binding and protein homodimerization activity.

UniProtKB/Swiss-Prot: NOGG_HUMAN, Q13253
Function: Essential for cartilage morphogenesis and joint formation. Inhibitor of bone morphogenetic proteins
(BMP) signaling which is required for growth and patterning of the neural tube and somite

Gene Wiki entry for NOG (Noggin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NOG gene promoter:
         CREB   COMP1   deltaCREB   MyoD   Nkx2-5   NF-kappaB1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNOG promoter sequence
   Search SABiosciences Chromatin IP Primers for NOG

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOG


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q22   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q22

NOG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NOG gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P054671:  view genomic region     (about GC identifiers)

Start:
54,671,060 bp from pter      End:
54,672,951 bp from pter
Size:
1,892 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NOGG_HUMAN, Q13253 (See protein sequence)
Recommended Name: Noggin precursor  
Size: 232 amino acids; 25774 Da
Subunit: Homodimer
Subcellular location: Secreted
1 PDB 3D structure from and Proteopedia for NOG:
1M4U (3D)    

Explore the universe of human proteins at neXtProt for NOG: NX_Q13253

Explore proteomics data for NOG at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13253

  • NOG Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NOG Protein Expression
    REFSEQ proteins: NP_005441.1  
    ENSEMBL proteins: 
     ENSP00000328181  
    Reactome Protein details: Q13253
    Human Recombinant Protein Products for NOG: 
    EMD Millipore Purified and/or Recombinant NOG Protein
    R&D Systems Recombinant & Natural Proteins for NOG (Noggin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NOG
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for NOG
    GenScript Purified and Recombinant Proteins for NOG
    Novus Biologicals NOG Proteins
    Novus Biologicals NOG Lysates
    Sino Biological Recombinant Protein for NOG
    Sino Biological Cell Lysate for NOG 
    ProSpec Recombinant Protein for NOG
    Cloud-Clone Corp. Proteins for NOG 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA11562478

    NOG for ontologies           About GeneDecksing



    NOG Antibody Products: 
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    Abcam antibodies for NOG
    Cloud-Clone Corp. Antibodies for NOG 
    ThermoFisher Antibodies for NOG
    LSBio Antibodies in human, mouse, rat for NOG 

    Assay Products for NOG: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NOG
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NOG 
    Cloud-Clone Corp. CLIAs for NOG


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR008717 Noggin

    Graphical View of Domain Structure for InterPro Entry Q13253

    ProtoNet protein and cluster: Q13253

    1 Blocks protein domain: IPB008717 Noggin

    UniProtKB/Swiss-Prot: NOGG_HUMAN, Q13253
    Similarity: Belongs to the noggin family


    NOG for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NOGG_HUMAN, Q13253
    Function: Essential for cartilage morphogenesis and joint formation. Inhibitor of bone morphogenetic proteins
    (BMP) signaling which is required for growth and patterning of the neural tube and somite

         Genatlas biochemistry entry for NOG:
    noggin,Spemann organizer,binding and inactivating BMP4 and other TGFB family members,involved in the joint
    formation and in skeletogenesis

         Summary:
    During embryonic development, NOG as signaling molecule is secreted from the following cells: Cranial Neural Crest Cells in Branchial Arch 1, Dermal Condensate Cells in Dermal Papilla (see all 28).

    It affects the following cells: Cardiac Progenitor Cells in Mesoderm, Cervical Sclerotome Cells in Cervical Mesenchymal Sclerotome (see all 38).

    NOG as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Posterior foregut from Pancreas, SB431542-induced cells from (see all).

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19804412
    GO:0019955cytokine binding IPI8752214
    GO:0042803protein homodimerization activity IDA11562478
         
    NOG for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NOG:
     Big cells 

         15/21 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nog) (see all 21):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 

    NOG for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NOG 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NOG

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NOG 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NOG 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NOG
    8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate NOG (see all 33):
    hsa-miR-142-5p hsa-miR-429 hsa-miR-374a hsa-miR-186 hsa-miR-155* hsa-miR-3148 hsa-miR-200b hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidNOG 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NOG
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of NOG

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NOG (see all 7)
    OriGene ORF clones in mouse, rat for NOG
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    GenScript: all cDNA clones in your preferred vector: NOG (NM_005450)
    Sino Biological Human cDNA Clone for NOG
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOG
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                         Customized lentivirus expression plasmids for stable overexpression of NOG 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOG


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NOG About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by BMP
    Signaling by BMP0.35
    BMP receptor signaling0.31
    BMP signalling and regulation0.35
    2Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency0.50
    Factors Promoting Cardiogenesis in Vertebrates0.50
    3Signaling by GPCR
    Signal Transduction0.55
    4TGF-beta signaling pathway
    TGF-beta signaling pathway
    5TGF-beta Signaling Pathway
    TGF-beta Signaling Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NOG
        Factors Promoting Cardiogenesis in Vertebrates
    Human Embryonic Stem Cell Pluripotency

    4 BioSystems Pathways for NOG
        TGF Beta Signaling Pathway
    BMP signalling and regulation
    Cardiac Progenitor Differentiation
    BMP receptor signaling

    1 Sino Biological Pathway for NOG 
        TGF-beta Signaling Pathway

    2        Reactome Pathways for NOG
        Signal Transduction
    Signaling by BMP


    1         Kegg Pathway  (Kegg details for NOG):
        TGF-beta signaling pathway


    NOG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NOG

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/22 Interacting proteins for NOG (Q132531, 2, 3 ENSP000003281814) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP2P126432, 3, ENSP000003681044MINT-7261628 MINT-7261642 I2D: score=2 STRING: ENSP00000368104
    BMP7P180751, 3, ENSP000003792044EBI-1035205,EBI-1035195 I2D: score=4 STRING: ENSP00000379204
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    BMP5P220033, ENSP000003598664I2D: score=1 STRING: ENSP00000359866
    BAMBIENSP000003646834STRING: ENSP00000364683
    About this table

    Gene Ontology (GO): 5/59 biological process terms (GO ID links to tree view) (see all 59):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001501skeletal system development TAS10080184
    GO:0001649osteoblast differentiation ISS--
    GO:0001655urogenital system development ----
    GO:0001657ureteric bud development ----

    NOG for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NOG for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NOG (NOGG)

    10/18 Novoseek inferred chemical compound relationships for NOG gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclopamine 59.9 1 14584895 (1)
    retinoic acid 41.6 12 20077402 (2), 17196394 (1), 8951057 (1), 9004232 (1) (see all 10)
    cystine 23.2 5 12925610 (2), 14525956 (1), 15621726 (1), 12478285 (1)
    heparan sulfate 5.86 7 14645250 (2), 11706034 (1), 18515207 (1)
    retinoid 4.62 3 10704832 (1), 15824860 (1), 10684250 (1)
    lysine 0 2 20048150 (2)
    lithium 0 2 9188756 (1), 16804895 (1)
    ribonucleic acid 0 1 10969730 (1)
    calcium 0 2 12239209 (1), 19135096 (1)
    tyrosine 0 1 18945349 (1)

    Search CenterWatch for drugs/clinical trials and news about NOG / NOGG

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NOG gene: 
    NM_005450.4  

    Unigene Cluster for NOG:

    Noggin
    Hs.248201  [show with all ESTs]
    Unigene Representative Sequence: NM_005450
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000332822(uc002iup.2)

    miRNA
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    8/33 QIAGEN miScript miRNA Assays for microRNAs that regulate NOG (see all 33):
    hsa-miR-142-5p hsa-miR-429 hsa-miR-374a hsa-miR-186 hsa-miR-155* hsa-miR-3148 hsa-miR-200b hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidNOG 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NOG
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NOG

    Additional mRNA sequence: 

    AK314080.1 BC034027.1 

    1 DOTS entry:

    DT.75174211 

    12 AceView cDNA sequences:

    CR611456 BX283192 NM_005450 AI634984 BC034027 AW295785 BQ710008 AA045124 
    AW205295 AL551507 BG610858 AL575177 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NOG expression in normal human tissues (normalized intensities)      NOG embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGAAGCAGG
    NOG Expression
    About this image


    NOG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 24 entries
             Prechondrocytic Mesenchymal Cells Lumbar Intervertebral Disc
             Cartilage-like cells
     
     Somite (Muscoskeletal System)    fully expand to see all 20 entries
             Myoblasts Cervical Epaxial Myotome
             Cervical Mesenchymal Sclerotome
             skeleton/axial skeleton   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 17 entries
             Myoblasts Cervical Epaxial Myotome
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Limb (Muscoskeletal System)    fully expand to see all 14 entries
             Interzone Cells Autopod Synovial Joint
             Autopod

    See NOG Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NOG

    SOURCE GeneReport for Unigene cluster: Hs.248201
        SABiosciences Expression via Pathway-Focused PCR Arrays including NOG: 
              Osteogenesis in human mouse rat
              Neurogenesis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Embryonic Stem Cells in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOG

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NOG gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nog1 , 5 noggin1, 5 93.82(n)1
    99.14(a)1
      11 (54.34 cM)5
    181211  NM_008711.21  NP_032737.11 
     893006385 
    chicken
    (Gallus gallus)
    Aves NOG1 noggin 79.48(n)
    85.65(a)
      373912  NM_204123.1  NP_989454.1 
    lizard
    (Anolis carolinensis)
    Reptilia NOG6
    Uncharacterized protein
    74(a)
    1 ↔ 1
    GL343198.1(406299-407015)
    African clawed frog
    (Xenopus laevis)
    Amphibia nog-A2 noggin 79.13(n)    M98807.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nog12 noggin 1 76.4(n)   30174  AF159147.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/98 SNPs in NOG are shown (see all 98)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0183254
    Symphalangism proximal syndrome (SYM1)4--see VAR_0183252 C Y mis40--------
    VAR_0113634
    Multiple synostoses syndrome 1 (SYNS1)4--see VAR_0113632 W G mis40--------
    VAR_0113614
    Tarsal-carpal coalition syndrome (TCC)4--see VAR_0113612 P R mis40--------
    VAR_0369994
    Brachydactyly B2 (BDB2)4--see VAR_0369992 E K mis40--------
    VAR_0113624
    Symphalangism proximal syndrome (SYM1)4--see VAR_0113622 G C mis40--------
    VAR_0645414
    Multiple synostoses syndrome 1 (SYNS1)4--see VAR_0645412 C W mis40--------
    VAR_0183264
    Tarsal-carpal coalition syndrome (TCC)4--see VAR_0183262 R L mis40--------
    VAR_0369984
    Brachydactyly B2 (BDB2)4--see VAR_0369982 A P mis40--------
    VAR_0376054
    Symphalangism proximal syndrome (SYM1)4--see VAR_0376052 W C mis40--------
    VAR_0113644
    Symphalangism proximal syndrome (SYM1)4--see VAR_0113642 I N mis40--------

    HapMap Linkage Disequilibrium report for NOG (54671060 - 54672951 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NOG:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672462CNV Deletion23128226
    nsv833494CNV Gain17160897


    Human Gene Mutation Database (HGMD): NOG

    Locus Specific Mutation Databases (LSDB): NOG
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing NOG:
    Glioma
    SeqTarget long-range PCR primers for resequencing NOG
    DNA2.0 Custom Variant and Variant Library Synthesis for NOG

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602991   
    OMIM disorders: 185800  186500  186570  184460  611377  
    UniProtKB/Swiss-Prot: NOGG_HUMAN, Q13253
  • Symphalangism proximal syndrome (SYM1) [MIM:185800]: Characterized by the hereditary absence of the
    proximal interphalangeal (PIP) joints (Cushing symphalangism). Severity of PIP joint involvement diminishes
    towards the radial side. 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. Conducive hearing loss is seen and is due to fusion of the stapes to the petrous
    part of the temporal bone. 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. 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.
    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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/40 diseases for NOG (see all 40):    About MalaCards
    tarsal carpal coalition syndrome    stapes ankylosis with broad thumb and toes    multiple synostoses syndrome 1    brachydactyly, type b2
    cushing's symphalangism    otosclerosis    brachydactyly type b    fibrodysplasia ossificans progressiva
    ankylosis    hyperopia    esophageal atresia    sost-related sclerosing bone dysplasia
    tracheoesophageal fistula    relapsing-remitting multiple sclerosis    synostosis    brachydactyly
    craniosynostosis    hypogonadotropism    myelofibrosis    premature ovarian failure

    7 diseases from the University of Copenhagen DISEASES database for NOG:
    Syndactyly     Fibrodysplasia ossificans progressiva     Ankylosis     Brachydactyly
    Hyperopia     Craniosynostosis     Otosclerosis

    NOG for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/24 Novoseek inferred disease relationships for NOG gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    symphalangism, proximal 93.9 17 11846737 (2), 11545688 (1), 7557985 (1), 18096605 (1) (see all 12)
    syns1 92.3 6 11562478 (2), 16151340 (1), 18440889 (1), 12089654 (1) (see all 5)
    fibrodysplasia ossificans progressiva 77.2 8 12672843 (1), 18019378 (1), 19400542 (1), 11503156 (1) (see all 7)
    brachydactyly, type b 77.1 2 18440889 (1), 11932993 (1)
    synostosis 72.6 10 18096605 (1), 18449926 (1), 15736221 (1), 17668388 (1) (see all 7)
    conductive hearing loss 68.1 3 18096605 (1), 18983945 (1), 15699718 (1)
    craniosynostosis 57.8 8 17437358 (2), 19182668 (1), 12687003 (1), 19627528 (1)
    arthrodesis 54.6 10 12621334 (2), 16353259 (1), 12955858 (1), 19471170 (1) (see all 7)
    hyperopia 47.7 3 12621334 (1), 18983945 (1), 12089654 (1)
    otosclerosis 38.4 3 16168495 (1), 19471170 (1), 12089654 (1)

    Genetic Association Database (GAD): NOG
    Human Genome Epidemiology (HuGE) Navigator: NOG (13 documents)

    Export disorders for NOG gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NOG gene, integrated from 9 sources (see all 364):
    (articles sorted by number of sources associating them with NOG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. (PubMed id 11545688)1, 2, 3, 9 Dixon M.E.... Bamshad M. (2001)
    2. Identification of mammalian noggin and its expression in the adult nervous system. (PubMed id 7666191)1, 2, 3, 9 Valenzuela D.M....Yancopoulos G.D. (1995)
    3. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. (PubMed id 10080184)1, 2, 3, 9 Gong Y....Warman M.L. (1999)
    4. Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. (PubMed id 11857750)1, 2, 9 Mangino M.... Dallapiccola B. (2002)
    5. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. (PubMed id 11846737)1, 2, 9 Takahashi T.... Takada G. (2001)
    6. Identification and association analysis of single nucleotide polymorphisms in the human noggin (NOG) gene and osteoporosis phenotypes. (PubMed id 19167531)1, 4, 9 Moffett S.P....Zmuda J.M. (2009)
    7. Structural basis of BMP signalling inhibition by the cystine knot protein Noggin. (PubMed id 12478285)1, 2, 9 Groppe J.... Choe S. (2002)
    8. Facioaudiosymphalangism syndrome and growth accelerat ion associated with a heterozygous NOG mutation. (PubMed id 20503332)1, 2, 9 Rudnik-SchAPneborn S....Zerres K. (2010)
    9. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. (PubMed id 17668388)1, 2, 9 Lehmann K.... Mundlos S. (2007)
    10. Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. (PubMed id 12089654)1, 2, 9 Brown D.J.... Lesperance M.M. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9241 HGNC: 7866 AceView: NOG Ensembl:ENSG00000183691 euGenes: HUgn9241
    ECgene: NOG Kegg: 9241 H-InvDB: NOG

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NOG Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NOG Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NOG

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NOG gene:
    Search GeneIP for patents involving NOG

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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