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Aliases for NOG Gene

Aliases for NOG Gene

  • Noggin 2 3 3 5
  • Symphalangism 1 (Proximal) 2 3
  • Synostoses (Multiple) Syndrome 1 2
  • SYNS1A 3
  • SYNS1 3
  • SYM1 3

External Ids for NOG Gene

Previous HGNC Symbols for NOG Gene

  • SYNS1
  • SYM1

Previous GeneCards Identifiers for NOG Gene

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

Summaries for NOG Gene

Entrez Gene Summary for NOG Gene

  • The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008]

GeneCards Summary for NOG Gene

NOG (Noggin) is a Protein Coding gene. Diseases associated with NOG include Tarsal-Carpal Coalition Syndrome and Brachydactyly, Type B2. Among its related pathways are Mesodermal Commitment Pathway and Signaling by BMP. GO annotations related to this gene include protein homodimerization activity and cytokine binding.

UniProtKB/Swiss-Prot for NOG Gene

  • Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 (PubMed:21976273, PubMed:26643732).

Gene Wiki entry for NOG Gene

Additional gene information for NOG Gene

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

Genomics for NOG Gene

Regulatory Elements for NOG Gene

Enhancers for NOG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H056784 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11 +192.8 192840 3 PKNOX1 ARID4B FEZF1 ZNF766 ATF7 FOS RUNX3 DEK ZNF623 SREBF1 C17orf67 NOG TRIM25 SCPEP1 GC17M056800 GC17M056765
GH17H056779 1.5 Ensembl ENCODE dbSUPER 11.1 +186.9 186936 3 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 FOS ATF7 NOG C17orf67 GC17M056765 GC17M056800
GH17H056697 1.2 Ensembl ENCODE 10.6 +105.3 105315 3 TBP PKNOX1 NFIB SIN3A ZBTB40 GTF3C2 POLR3A ZNF366 SCRT2 FOS ENSG00000262298 NOG GC17M056726 GC17P056602
GH17H056754 1.1 Ensembl ENCODE dbSUPER 11.1 +162.0 162016 3 BCOR FOXA2 ZMYM3 ZNF384 ZNF623 JUND KDM1A FOXP2 FOS NOG RNF126P1 GC17M056765 GC17M056726
GH17H056715 0.7 ENCODE 11.7 +122.4 122366 0 CTCF ZNF654 HLF TRIM22 CEBPB REST ZNF2 RAD21 ZNF217 NFIL3 NOG GC17M056726 GC17P056602
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NOG on UCSC Golden Path with GeneCards custom track

Promoters for NOG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000096009 -99 2001 SIN3A GLI4 ZNF2 GLIS2 ELK1 ZNF143 ZNF207 KLF7 SP3 TSHZ1

Genomic Location for NOG Gene

Chromosome:
17
Start:
56,593,699 bp from pter
End:
56,595,590 bp from pter
Size:
1,892 bases
Orientation:
Plus strand

Genomic View for NOG Gene

Genes around NOG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOG Gene

Proteins for NOG Gene

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

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

    Protein attributes for NOG Gene

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

    Three dimensional structures from OCA and Proteopedia for NOG Gene

neXtProt entry for NOG Gene

Post-translational modifications for NOG Gene

  • Glycosylation at Asn62
  • Modification sites at PhosphoSitePlus

Other Protein References for NOG Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NOG

Protein Products

No data available for DME Specific Peptides for NOG Gene

Domains & Families for NOG Gene

Gene Families for NOG Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for NOG Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NOG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13253

UniProtKB/Swiss-Prot:

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

Function for NOG Gene

Molecular function for NOG Gene

GENATLAS Biochemistry:
noggin,Spemann organizer,binding and inactivating BMP4 and other TGFB family members,involved in the joint formation and in skeletogenesis
UniProtKB/Swiss-Prot Function:
Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its interaction with GDF5 and, probably, GDF6 (PubMed:21976273, PubMed:26643732).

LifeMap Function Summary for NOG Gene

During embryonic development, NOG as signaling molecule is secreted from the following cells
It affects the following cells:
NOG as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for NOG Gene

Gene Ontology (GO) - Molecular Function for NOG Gene

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

Human Phenotype Ontology for NOG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOG Gene

MGI Knock Outs for NOG:

Animal Model Products

CRISPR Products

miRNA for NOG Gene

miRTarBase miRNAs that target NOG

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NOG
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOG Gene

Localization for NOG Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOG Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOG gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for NOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IDA 7666191
genes like me logo Genes that share ontologies with NOG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOG Gene

Pathways & Interactions for NOG Gene

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

SIGNOR curated interactions for NOG Gene

Inactivates:

Gene Ontology (GO) - Biological Process for NOG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001501 skeletal system development TAS,IEA 10080184
GO:0001649 osteoblast differentiation IEA,ISS 10780858
GO:0001655 urogenital system development IEA --
GO:0001657 ureteric bud development IEA --
genes like me logo Genes that share ontologies with NOG: view

Drugs & Compounds for NOG Gene

(12) Drugs for NOG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for NOG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NOG: view

Transcripts for NOG Gene

mRNA/cDNA for NOG Gene

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

Unigene Clusters for NOG Gene

Noggin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NOG
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for NOG Gene

GeneLoc Exon Structure for
NOG
ECgene alternative splicing isoforms for
NOG

Expression for NOG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NOG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for NOG Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (66.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NOG Gene



Protein tissue co-expression partners for NOG Gene

NURSA nuclear receptor signaling pathways regulating expression of NOG Gene:

NOG

SOURCE GeneReport for Unigene cluster for NOG Gene:

Hs.248201

Evidence on tissue expression from TISSUES for NOG Gene

  • Nervous system(4.5)
  • Bone(2.5)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NOG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • sternum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with NOG: view

Primer Products

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

Orthologs for NOG Gene

This gene was present in the common ancestor of chordates.

Orthologs for NOG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOG 33 34
  • 99.14 (n)
oppossum
(Monodelphis domestica)
Mammalia NOG 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NOG 33 34
  • 95.98 (n)
mouse
(Mus musculus)
Mammalia Nog 16 34 33
  • 93.82 (n)
rat
(Rattus norvegicus)
Mammalia Nog 33
  • 93.68 (n)
dog
(Canis familiaris)
Mammalia NOG 33 34
  • 92.32 (n)
chicken
(Gallus gallus)
Aves NOG 33 34
  • 79.17 (n)
lizard
(Anolis carolinensis)
Reptilia NOG 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nog 33
  • 70.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia nog-A 33
zebrafish
(Danio rerio)
Actinopterygii nog1 33 34
  • 67.35 (n)
NOG (1 of 3) 34
  • 61 (a)
OneToMany
nog3 34
  • 61 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToOne
Species where no ortholog for NOG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NOG Gene

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

Paralogs for NOG Gene

No data available for Paralogs for NOG Gene

Variants for NOG Gene

Sequence variations from dbSNP and Humsavar for NOG Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs104894602 Pathogenic, Symphalangism, proximal 1A (SYM1A) [MIM:185800], Tarsal-carpal coalition syndrome (TCC) [MIM:186570] 56,594,888(+) CCAGT(A/G)CCCCA reference, missense
rs104894603 Pathogenic, Multiple synostoses syndrome 1 (SYNS1) [MIM:186500] 56,594,872(+) GCGGC(G/T)GGATT reference, missense
rs104894608 Pathogenic, Symphalangism, proximal 1A (SYM1A) [MIM:185800] 56,594,891(+) GTACC(C/T)CATCA reference, missense
rs104894609 Pathogenic, Symphalangism, proximal 1A (SYM1A) [MIM:185800] 56,594,788(+) CCGAG(G/T)GCATG reference, missense
rs104894610 Pathogenic, Tarsal-carpal coalition syndrome (TCC) [MIM:186570] 56,594,834(+) GCTGC(A/G/T)GTGGC reference, missense

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

Variant ID Type Subtype PubMed ID
esv2672462 CNV deletion 23128226
nsv1133409 CNV deletion 24896259
nsv833494 CNV gain 17160897
nsv952343 CNV deletion 24416366

Variation tolerance for NOG Gene

Residual Variation Intolerance Score: 46.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NOG Gene

Human Gene Mutation Database (HGMD)
NOG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOG

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

Disorders for NOG Gene

MalaCards: The human disease database

(28) MalaCards diseases for NOG Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
tarsal-carpal coalition syndrome
  • tarsal carpal coalition syndrome
brachydactyly, type b2
  • brachydactyly type b2
stapes ankylosis with broad thumb and toes
  • stapes ankylosis syndrome without symphalangism
multiple synostoses syndrome 1
  • deafness-symphalangism syndrome of herrmann
symphalangism, proximal, 1a
  • symphalangism, proximal 1a
- elite association - COSMIC cancer census association via MalaCards
Search NOG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

Relevant External Links for NOG

Genetic Association Database (GAD)
NOG
Human Genome Epidemiology (HuGE) Navigator
NOG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NOG
genes like me logo Genes that share disorders with NOG: view

No data available for Genatlas for NOG Gene

Publications for NOG Gene

  1. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. (PMID: 11545688) Dixon ME … Bamshad M (Genetics in medicine : official journal of the American College of Medical Genetics 2001) 2 3 4 22 60
  2. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. (PMID: 10080184) Gong Y … Warman ML (Nature genetics 1999) 2 3 4 22 60
  3. Identification of mammalian noggin and its expression in the adult nervous system. (PMID: 7666191) Valenzuela DM … Gilbert DJ (The Journal of neuroscience : the official journal of the Society for Neuroscience 1995) 2 3 4 22 60
  4. Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. (PMID: 20503332) Rudnik-Schöneborn S … Zerres K (American journal of medical genetics. Part A 2010) 3 4 22 60
  5. Identification and association analysis of single nucleotide polymorphisms in the human noggin (NOG) gene and osteoporosis phenotypes. (PMID: 19167531) Moffett SP … Zmuda JM (Bone 2009) 3 22 45 60

Products for NOG Gene

Sources for NOG Gene

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