Gene Gene information from NCBI Gene database.
Entrez ID 9241
Gene name Noggin
Gene symbol NOG
Synonyms (NCBI Gene)
SYM1SYNS1SYNS1A
Chromosome 17
Chromosome location 17q22
Summary 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 e
SNPs SNP information provided by dbSNP.
18
SNP ID Visualize variation Clinical significance Consequence
rs28937580 C>G,T Pathogenic Missense variant, coding sequence variant
rs104894602 A>G Pathogenic Missense variant, coding sequence variant
rs104894603 T>G Pathogenic Missense variant, coding sequence variant
rs104894608 C>T Pathogenic Missense variant, coding sequence variant
rs104894609 G>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
17
miRTarBase ID miRNA Experiments Reference
MIRT288330 hsa-miR-200c-3p qRT-PCR 23294929
MIRT288330 hsa-miR-200c-3p qRT-PCR 23294929
MIRT2283671 hsa-miR-101 CLIP-seq
MIRT2283672 hsa-miR-144 CLIP-seq
MIRT2283673 hsa-miR-181a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
124
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development TAS 10080184
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602991 7866 ENSG00000183691
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13253
Protein name Noggin
Protein 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 inter
PDB 1M4U , 7AG0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05806 Noggin 12 232 Family
Sequence
Sequence length 232
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  TGF-beta signaling pathway   Signaling by BMP
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Brachydactyly type B2 Likely pathogenic; Pathogenic rs1328705140, rs121908949, rs28937580 RCV001730032
RCV000007092
RCV000007094
RCV000007100
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NOG-related disorder Pathogenic; Likely pathogenic rs2145567621, rs2545137863, rs121908949, rs2545137784 RCV001842239
RCV004529273
RCV004542632
RCV004531924
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NOG-related-symphlangism spectrum disorder Pathogenic rs1354515769 RCV001528101
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal symphalangism 1A Likely pathogenic; Pathogenic rs2145567535, rs104894602, rs121908948, rs104894608, rs104894609, rs104894611, rs104894612, rs104894613, rs28937580, rs1567745111 RCV001526526
RCV000007079
RCV000007080
RCV000007082
RCV000007083
RCV000049267
RCV000007089
RCV000007090
RCV000007093
RCV000735694
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE B2 CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMMON WART GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acro Osteolysis Associate 14753748, 21249149
★☆☆☆☆
Found in Text Mining only
Ankylosis Associate 32791904
★☆☆☆☆
Found in Text Mining only
Anophthalmos with limb anomalies Associate 23361222
★☆☆☆☆
Found in Text Mining only
Aortic Valve Disease Associate 23483047
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Inhibit 33463122
★☆☆☆☆
Found in Text Mining only
Bone Cysts Associate 21249149
★☆☆☆☆
Found in Text Mining only
Bone Diseases Inhibit 21249149
★☆☆☆☆
Found in Text Mining only
Bone Diseases Associate 22547073, 23799295
★☆☆☆☆
Found in Text Mining only
Brachydactyly Type B1 Associate 17668388
★☆☆☆☆
Found in Text Mining only
Brain Infarction Associate 36529041
★☆☆☆☆
Found in Text Mining only