NOG 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. Defects in NOG are a cause of symphalangism proximal syndrome (SYM1). 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); 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). 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); 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). 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. Belongs to the noggin family. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 17q22
Cellular Component:  extracellular region; extracellular space
Molecular Function:  cytokine binding; protein binding; protein homodimerization activity
Biological Process:  atrial cardiac muscle tissue morphogenesis; axial mesoderm development; BMP signaling pathway; BMP signaling pathway involved in heart development; cartilage development; cell differentiation in hindbrain; dorsal/ventral pattern formation; embryonic digit morphogenesis; embryonic skeletal joint morphogenesis; embryonic skeletal system development; endocardial cushion morphogenesis; endoderm formation; epithelial to mesenchymal transition; face morphogenesis; fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation; heart trabecula morphogenesis; in utero embryonic development; limb development; lung morphogenesis; membranous septum morphogenesis; 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 cytokine activity; negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation; negative regulation of osteoblast differentiation; negative regulation of pathway-restricted SMAD protein phosphorylation; negative regulation of transcription by RNA polymerase II; nervous system development; neural plate morphogenesis; neural tube closure; 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; prostatic bud formation; regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation; skeletal system development; somatic stem cell population maintenance; somite development; spinal cord development; ureteric bud formation; ventricular compact myocardium morphogenesis; ventricular septum morphogenesis; wound healing
Disease: Brachydactyly, Type B2; Multiple Synostoses Syndrome 1; Stapes Ankylosis With Broad Thumb And Toes; Symphalangism, Proximal, 1a; Tarsal-carpal Coalition Syndrome
Reference #:  Q13253 (UniProtKB)
Alt. Names/Synonyms: NOG; NOGG; Noggin; SYM1; symphalangism 1 (proximal); SYNS1
Gene Symbols: NOG
Molecular weight: 25,774 Da
Basal Isoelectric point: 9.13  Predict pI for various phosphorylation states
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NOG

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene