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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)
 Explore 41 diseases affiliated with
NOG via our new
 Human Malady Compendium 
Biological research products
for NOG
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Noggin1
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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13253

  • NOG Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005441.1  
    ENSEMBL proteins: 
     ENSP00000328181  
    Reactome Protein details: Q13253
    Human Recombinant Protein Products: 
    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: NOG
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    Novus Biologicals NOG Proteins
    Novus Biologicals NOG Lysates
    Sino Biological Recombinant Protein for NOG
    ProSpec Recombinant Protein for NOG
    Uscn 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: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of NOG
    R&D Systems Antibodies for NOG (Noggin)
    OriGene Antibodies (see all 4): NOG
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    Abcam antibodies for NOG 
    Uscn Antibodies for NOG
    ThermoFisher Antibodies for NOG

    Assay Products for NOG: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for NOG


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NOG for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008717 Noggin

    Graphical View of Domain Structure for InterPro Entry Q13253

    ProtoNet protein and cluster: Q13253

    1 Blocks protein family: IPB008717 Noggin

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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, Dorsal Pancreatic Mesenchymal Cells in Dorsal Pancreatic Mesenchyme (see all 21).

    It affects the following cells: Cardiac progenitor Cells in Mesoderm, Cervical Sclerotome Cells in Cervical Mesenchymal Sclerotome (see all 29).

    NOG as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Anterior foregut endoderm like cells, Pancreatic endocrine/exocrine-like cells (see all 15).

    miRNA
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    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NOG (see all 7)
    OriGene shRNA RFP: NOG
    OriGene siRNA: NOG
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NOG

    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NOG (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOG 

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

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0019955cytokine binding IPI8752214
    GO:0032403protein complex binding ----
    GO:0042803protein homodimerization activity IDA11562478


    NOG for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NOG:
     Big cells 

    Animal Models:
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by BMP
    Signaling by BMP1.00
    BMP receptor signaling0.31
    BMP signalling and regulation0.35
    2Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency1.00
    Factors Promoting Cardiogenesis in Vertebrates0.50
    3TGF Beta Signaling Pathway
    TGF Beta Signaling Pathway1.00
    4TGF-beta signaling pathway
    TGF-beta signaling pathway1.00
    5Signaling by GPCR
    Signal Transduction0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    3 BioSystems Pathways for NOG 
        BMP signalling and regulation
    TGF Beta Signaling Pathway
    BMP receptor signaling

    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): 5/60 biological process terms (GO ID links to tree view) (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 ISS10780858
    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, 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
    10/18 Novoseek 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 235 Homo sapiens; Mar 10 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,
    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, 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)

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    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
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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 cDNA sequence: 

    AK314080.1 BC034027.1 

    1 DOTS entry:

    DT.75174211 

    12 AceView cDNA sequences:

    CR611456 NM_005450 AI634984 BX283192 BQ710008 BC034027 AW295785 AW205295 
    AA045124 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™, 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGAAGCAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    NOG expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/43 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 43
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageLumbar Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageSacral Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    CartilageThoracic Intervertebral DiscPrechondrocytic Mesenchymal CellsCartilage
    LungTracheaAirway Smooth Muscle CellsLung, Smooth Muscle
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)

    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 5/15 species (see all 15)    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
    --
    73(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, UniProtKB, 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

    10/56 NCBI SNPs in NOG are shown (see all 56    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289375801,2
    Cpathogenic50032465(+) TCCGCC/G/TCGGCA 3 P A S mis1 ese32NA 4
    rs1048946111,2
    Cpathogenic50032466(+) CCGCCC/GGGCAC 2 P R mis10--------
    rs1048946141,2
    Cpathogenic50032690(+) TGCGGC/TAGCGG 2 Q * stg10--------
    rs1048946131,2
    Cpathogenic50032748(+) GGGCTA/TGGCCC 2 * L stg10--------
    rs1048946121,2
    Cpathogenic50032913(+) CTCGTA/GCTCCG 2 Y C mis10--------
    rs1048946091,2
    Cpathogenic50032927(+) CCGAGG/TGCATG 2 G C mis10--------
    rs1048946151,2
    Cpathogenic50032977(+) CGGTGC/GCGCTG 2 C W mis10--------
    rs1048946031,2
    Cpathogenic50033011(+) GCGGCG/TGGATT 2 G W mis10--------
    rs1048946021,2
    Cpathogenic50033027(+) CCAGTA/GCCCCA 2 Y C mis10--------
    rs1048946081,2
    Cpathogenic50033030(+) GTACCC/TCATCA 2 P L mis10--------

    HapMap Linkage Disequilibrium report for NOG (54671060 - 54672951 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NOG: --
    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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    NOG for disorders           About GeneDecksing

    OMIM gene information: 602991   
    OMIM disorders: 185800  186500  186570  184460  611377  
    UniProtKB/Swiss-Prot: NOGG_HUMAN, Q13253
  • Defects in NOG are a cause of symphalangism proximal syndrome (SYM1) [MIM:185800]. SYM1 is 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
  • Defects in NOG are the cause of multiple synostoses syndrome type 1 (SYNS1) [MIM:186500]; also known as
  • synostoses, multiple, with brachydactyly/symphalangism-brachydactyly syndrome. SYNS1 is characterized by
    tubular-shaped (hemicylindrical) nose with lack of alar flare, otosclerotic deafness, and multiple progressive joint
    fusions commencing in the hand. The joint fusions are progressive, commencing in the fifth proximal interphalangeal
    joint in early childhood (or at birth in some individuals) and progressing in an ulnar-to-radial and
    proximal-to-distal direction. With increasing age, ankylosis of other joints, including the cervical vertebrae, hips,
    and humeroradial joints, develop
  • Defects in NOG are the cause of tarsal-carpal coalition syndrome (TCC) [MIM:186570]. TCC is an 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
  • Defects in NOG are a cause of stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]; also known as
  • Teunissen-Cremers syndrome. SABTS is a 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
  • Defects in NOG are the cause of brachydactyly type B2 (BDB2) [MIM:611377]. BDB2 is a subtype of brachydactyly
  • characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of
    carpal/tarsal bones, and partial cutaneous syndactyly

    20/41 diseases for NOG (see all 41):    About MalaCards
    synostoses syndrome    stapes ankylosis with broad thumb and toes    tarsal-carpal coalition syndrome    fibrodysplasia ossificans progressiva
    sost-related sclerosing bone dysplasia    tracheoesophageal fistula    brachydactyly type b    relapsing-remitting multiple sclerosis
    brachydactyly, type b2    neural tube defect    cushing's symphalangism    non-small cell lung carcinoma
    brachydactyly    hearing loss    ankylosis    esophageal atresia
    premature ovarian failure    synostosis    hyperopia    otosclerosis

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

    10/24 Novoseek 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 360):
    (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. Structural basis of BMP signalling inhibition by the cystine knot protein Noggin. (PubMed id 12478285)1, 2, 9 Groppe J.... Choe S. (2002)
    7. Facioaudiosymphalangism syndrome and growth accelerat ion associated with a heterozygous NOG mutation. (PubMed id 20503332)1, 2, 9 Rudnik-SchAPneborn S....Zerres K. (2010)
    8. 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)
    9. 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)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (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



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