NOG
Noggin
Also known as: NOGG_HUMAN, SYM1, SYNS1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13253
- Gene
- NOG
- Ensembl
- ENSG00000183691
- Chromosome
- 17
- Canonical length
- 232 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Secretome location
- Secreted to blood
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
232 residues, UniProt reviewed canonical sequence.
>Q13253|NOG
1 MERCPSLGVT LYALVVVLGL RATPAGGQHY LHIRPAPSDN LPLVDLIEHP DPIFDPKEKD
61 LNETLLRSLL GGHYDPGFMA TSPPEDRPGG GGGAAGGAED LAELDQLLRQ RPSGAMPSEI
121 KGLEFSEGLA QGKKQRLSKK LRRKLQMWLW SQTFCPVLYA WNDLGSRFWP RYVKVGSCFS
181 KRSCSVPEGM VCKPSKSVHL TVLRWRCQRR GGQRCGWIPI QYPIISECKC SCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NOG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 10 nTPM
Expression across tissuesHPA
Tissue
- placenta: 10 nTPM
- basal ganglia: 5.5 nTPM
- cerebral cortex: 3.8 nTPM
- amygdala: 3.7 nTPM
- cervix: 3.4 nTPM
- hippocampal formation: 3.4 nTPM
Single-cell type
- retinal pigment epithelial cells: 98 nCPM
- extravillous trophoblasts: 26 nCPM
- hematopoietic stem cells: 6.8 nCPM
- bergmann glia: 6.5 nCPM
- thymic myoid cells: 5.4 nCPM
- thymocytes: 4.2 nCPM
Immune cell
- naive CD4 T-cell: 73 nTPM
- naive CD8 T-cell: 35 nTPM
- memory CD4 T-cell: 4.4 nTPM
- T-reg: 3.4 nTPM
- total PBMC: 3.1 nTPM
- basophil: 0.9 nTPM
Brain region
- thalamus: 18 nTPM
- amygdala: 14 nTPM
- midbrain: 11 nTPM
- basal ganglia: 11 nTPM
- cerebral cortex: 9.5 nTPM
- hippocampal formation: 9.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NOG.
Disease | AllUniProt
Conditions NOG is implicated in, by any mechanism.
- Symphalangism, proximal 1A (SYM1A) MIM:185800
- Multiple synostoses syndrome 1 (SYNS1) MIM:186500
- Tarsal-carpal coalition syndrome (TCC) MIM:186570
- Stapes ankylosis with broad thumb and toes (SABTS) MIM:184460
- Brachydactyly B2 (BDB2) MIM:611377
Disease | GeneticClinVar
50 pathogenic / likely-pathogenic of 249 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Proximal symphalangism 1A
- Symphalangism-brachydactyly syndrome
- Stapes ankylosis with broad thumbs and toes
- Brachydactyly type B2
- Tarsal-carpal coalition syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.42
- gnomAD pLI
- 0.89
- gnomAD missense Z
- 1.32
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- atrial cardiac muscle tissue morphogenesis
- axial mesoderm development
- BMP signaling pathway
- cartilage development
- cell differentiation in hindbrain
- cranial skeletal system development
- dorsal/ventral pattern formation
- embryonic digit morphogenesis
- embryonic skeletal joint morphogenesis
- embryonic skeletal system development
- endocardial cushion formation
- endoderm formation
- epithelial cell proliferation
- epithelial to mesenchymal transition
- exploration behavior
- face morphogenesis
- fibroblast growth factor receptor signaling pathway
- heart trabecula morphogenesis
- in utero embryonic development
- limb development
- long-term synaptic potentiation
- lung morphogenesis
- membranous septum morphogenesis
- mesoderm development
- mesoderm formation
- middle ear morphogenesis
- motor neuron axon guidance
- negative regulation of apoptotic signaling pathway
- negative regulation of astrocyte differentiation
- negative regulation of BMP signaling pathway
- negative regulation of canonical Wnt signaling pathway
- negative regulation of cardiac muscle cell proliferation
- negative regulation of cartilage development
- negative regulation of cell migration
- negative regulation of gene expression
- negative regulation of osteoblast differentiation
- negative regulation of SMAD protein signal transduction
- negative regulation of transcription by RNA polymerase II
- nervous system development
- neural plate anterior/posterior regionalization
- neural plate morphogenesis
- neural tube closure
- nodal signaling pathway
- notochord morphogenesis
- osteoblast differentiation
- outflow tract morphogenesis
- pharyngeal arch artery morphogenesis
- pituitary gland development
- positive regulation of branching involved in ureteric bud morphogenesis
- positive regulation of epithelial cell proliferation
- positive regulation of gene expression
- positive regulation of glomerulus development
- positive regulation of transcription by RNA polymerase II
- presynaptic modulation of chemical synaptic transmission
- prostatic bud formation
- regulation of fibroblast growth factor receptor signaling pathway
- regulation of neuronal synaptic plasticity
- short-term synaptic potentiation
- skeletal system development
- smoothened signaling pathway
- somatic stem cell population maintenance
- somite development
- spinal cord development
- stem cell differentiation
- ureteric bud formation
- ventricular compact myocardium morphogenesis
- ventricular septum morphogenesis
- visual learning
- wound healing
- negative regulation of cardiac epithelial to mesenchymal transition
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cystine-knot cytokine
- Noggin
- Noggin
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NOG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NOG as an antibody target. Whether an autoantibody or antibody against NOG could matter depends on whether native NOG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NOG is annotated as secreted, so native NOG circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label NOG as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...