InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NOG

Summary

InnateDB Protein

IDBP-60162.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NOG

Protein Name

noggin

Synonyms

SYM1; SYNS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000328181

InnateDB Gene

IDBG-60160 (NOG)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:12478285}.

Subcellular Localization

Secreted.

Disease Associations

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:0000269PubMed:10080184, ECO:0000269PubMed:11846737, ECO:0000269PubMed:11857750, ECO:0000269PubMed:15770128}. 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:0000269PubMed:10080184, ECO:0000269PubMed:20503332}. 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:0000269PubMed:11545688}. 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:0000269PubMed:12089654}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:17668388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019955	cytokine binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001501	skeletal system development
GO:0001649	osteoblast differentiation
GO:0001655	urogenital system development
GO:0001657	ureteric bud development
GO:0001701	in utero embryonic development
GO:0001706	endoderm formation
GO:0001707	mesoderm formation
GO:0001837	epithelial to mesenchymal transition
GO:0001839	neural plate morphogenesis
GO:0001843	neural tube closure
GO:0007389	pattern specification process
GO:0007399	nervous system development
GO:0007411	axon guidance
GO:0007417	central nervous system development
GO:0007420	brain development
GO:0008045	motor neuron axon guidance
GO:0009953	dorsal/ventral pattern formation
GO:0010629	negative regulation of gene expression
GO:0021510	spinal cord development
GO:0021533	cell differentiation in hindbrain
GO:0021915	neural tube development
GO:0021983	pituitary gland development
GO:0030336	negative regulation of cell migration
GO:0030509	BMP signaling pathway
GO:0030510	regulation of BMP signaling pathway
GO:0030514	negative regulation of BMP signaling pathway
GO:0035019	somatic stem cell maintenance
GO:0042060	wound healing
GO:0042474	middle ear morphogenesis
GO:0042733	embryonic digit morphogenesis
GO:0045596	negative regulation of cell differentiation
GO:0045668	negative regulation of osteoblast differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048318	axial mesoderm development
GO:0048570	notochord morphogenesis
GO:0048646	anatomical structure formation involved in morphogenesis
GO:0048706	embryonic skeletal system development
GO:0048712	negative regulation of astrocyte differentiation
GO:0048762	mesenchymal cell differentiation
GO:0050679	positive regulation of epithelial cell proliferation
GO:0051216	cartilage development
GO:0060044	negative regulation of cardiac muscle cell proliferation
GO:0060173	limb development
GO:0060272	embryonic skeletal joint morphogenesis
GO:0060302	negative regulation of cytokine activity
GO:0060325	face morphogenesis
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation
GO:0060425	lung morphogenesis
GO:0060513	prostatic bud formation
GO:0060676	ureteric bud formation
GO:0060825	fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation
GO:0061037	negative regulation of cartilage development
GO:0061053	somite development
GO:0071773	cellular response to BMP stimulus
GO:0090090	negative regulation of canonical Wnt signaling pathway
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis
GO:0090193	positive regulation of glomerulus development
GO:2000313	regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation
GO:2001234	negative regulation of apoptotic signaling pathway