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NOG Gene

protein-coding   GIFtS: 66
GCID: GC17P054671

Noggin

(Previous names: synostoses (multiple) syndrome 1, symphalangism 1 (proximal))
(Previous symbols: SYNS1, SYM1)
  See NOG-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 brachydactyly, type b2, and tarsal-carpal coalition syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   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 Chromatin IP Primers for NOG

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NOGG_HUMAN, Q13253 (See protein sequence)
Recommended Name: Noggin precursor  
Size: 232 amino acids; 25774 Da
Subunit: Homodimer
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: 

  • Glycosylation2 at Asn62

  • See NOG Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005441.1  
    ENSEMBL proteins: 
     ENSP00000328181  
    Reactome Protein details: Q13253

    NOG Human Recombinant Protein Products:

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    Novus Biologicals NOG Proteins
    Novus Biologicals NOG Lysates
    Sino Biological Recombinant Protein for NOG
    Sino Biological Cell Lysate for NOG
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    Cloud-Clone Corp. Proteins for NOG

     
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    NOG Antibody Products:

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    LSBio Antibodies in human, mouse, rat for NOG

    NOG Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NOG
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    Search eBioscience for ELISAs for NOG 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with NOG           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:
          selected tissues (see all 7)      fully expand
    Somite: Myoblasts (Cervical Dorsomedial Dermomyotome Lip), Myoblasts (Sacral Dorsomedial Dermomyotome Lip)      fully expand to see all 12 cells
    Dermis: Guard Dermal Papilla Cells (Dermal Papilla), Dermal Condensate Cells (Ventral Dermis)      fully expand to see all 5 cells

    It affects the following cells:
          selected tissues (see all 9)      fully expand
    Somite: Myoblasts (Cervical Mesenchymal Sclerotome), Cervical Sclerotome Cells (Cervical Somite)      fully expand to see all 16 cells
    Hair: Primary Hair Placode Cells (Hair Follicle), Mature Telogen Hair Cells (Hair Follicle)      fully expand to see all 3 cells

    NOG as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
          selected tissues (see all 6)      fully expand
    Pancreas: Pancreatic endocrine/exocrine-like cells, Posterior foregut      fully expand to see all 5 cells
    Neural Tube: Neural rosettes, Floor plate-like cells      fully expand to see all 2 cells

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19804412
    GO:0019955cytokine binding IPI8752214
    GO:0042803protein homodimerization activity IDA11562478
         
    Find genes that share ontologies with NOG           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NOG:
     Big cells 

         Selected 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/body  hearing/vestibular/ear  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 

    Find genes that share phenotypes with NOG           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NOG
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
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    Selected qRT-PCR 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:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat NOG

    Gene Editing
    Products:
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    Clone
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    GenScript: all cDNA clones in your preferred vector: NOG (NM_005450)
    Sino Biological Human cDNA Clone for NOG
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NOG
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOG

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOG


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NOGG_HUMAN, Q13253: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    nucleus2
    plasma membrane2

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with NOG           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50
    3Signaling by GPCR
    Signal Transduction0.58
    4TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway
    5TGF-beta Signaling Pathway (sino)
    TGF-beta Signaling Pathway


    Find genes that share SuperPaths with NOG           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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

    1 Reactome Pathway for NOG
        Signaling by BMP


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for NOG

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

    Selected Interacting proteins for NOG (Q132531, 2, 3 ENSP000003281814) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP2P126431, 2, 3, ENSP000003681044EBI-1035205,EBI-1029262 MINT-7261628 MINT-7261642 I2D: score=2 STRING: ENSP00000368104
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    BMP7P180753, ENSP000003792044I2D: score=4 STRING: ENSP00000379204
    BMP5P220033, ENSP000003598664I2D: score=1 STRING: ENSP00000359866
    BAMBIENSP000003646834STRING: ENSP00000364683
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 60):    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 ----

    Find genes that share ontologies with NOG           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NOG (NOGG)

    Selected 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)



    Find genes that share compounds with NOG           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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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      QuantiTect SYBR Green Assays in human, mouse, rat NOG
      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:

    NM_005450 CR611456 AI634984 BX283192 BC034027 AW295785 BQ710008 AA045124 
    AW205295 BG610858 AL551507 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NOG expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 20) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 17 entries
             Prechondrocytic Mesenchymal Cells Annulus Fibrosus
     
     Somite (Muscoskeletal System)    fully expand to see all 14 entries
             Myoblasts Cervical Epaxial Myotome
             Thoracic Mesenchymal Sclerotome
     
     Limb (Muscoskeletal System)    fully expand to see all 14 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
             Autopod
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 12 entries
             Myoblasts Cervical Epaxial Myotome
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Osteochondro Mesenchymal Cells Rib
             Zeugopod Long Bone
    NOG Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NOG Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.248201
        Pathway & Disease-focused RT2 Profiler 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

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat NOG
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NOG gene from Selected species (see all 12)    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 79.17(n)
    85.65(a)
      373912  NM_204123.1  NP_989454.1 
    lizard
    (Anolis carolinensis)
    Reptilia NOG6
    noggin
    75(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

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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NOG (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
    ----------
    rs289375801,2,,4
    CSymphalangism, proximal 1A (SYM1A)4 pathogenic150032465(+) TCCGCC/G/TCGGCA 3 P A S mis1 ese30--------
    VAR_0183254
    Symphalangism, proximal 1A (SYM1A)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 1A (SYM1A)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 1A (SYM1A)4--see VAR_0376052 W C 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

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602991   
    OMIM disorders: 185800  186500  186570  184460  611377  
    UniProtKB/Swiss-Prot: NOGG_HUMAN, Q13253
  • 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. 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

  • 19 diseases for NOG:    
    About MalaCards
    brachydactyly, type b2    tarsal-carpal coalition syndrome    multiple synostoses syndrome    proximal symphalangism
    stapes ankylosis with broad thumb and toes    multiple synostoses syndrome 1    multiple synostosis syndrome 1    hereditary diffuse gastric cancer
    otosclerosis    tracheoesophageal fistula    brachydactyly type b    esophageal atresia
    ankylosis    hyperopia    fibrodysplasia ossificans progressiva    diffuse gastric cancer
    brachydactyly    relapsing-remitting multiple sclerosis    prostate cancer

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

    Find genes that share disorders with NOG           About GenesLikeMe

    Selected 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)
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    PubMed articles for NOG gene, integrated from 10 sources (see all 369):
    (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. (Genet. Med. 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. (J. Neurosci. 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. (Nat. Genet. 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. (Hum. Mutat. 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. (Clin. Genet. 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. (Bone 2009)
    7. Structural basis of BMP signalling inhibition by the cystine knot protein Noggin. (PubMed id 12478285)1, 2, 9 Groppe J.... Choe S. (Nature 2002)
    8. Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. (PubMed id 20503332)1, 2, 9 Rudnik-Schoneborn S.... Zerres K. (Am. J. Med. Genet. A 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. (Am. J. Hum. Genet. 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. (Am. J. Hum. Genet. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 9241 HGNC: 7866 AceView: NOG Ensembl:ENSG00000183691 euGenes: HUgn9241
    ECgene: NOG Kegg: 9241 H-InvDB: NOG

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=NOG[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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