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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
q22
Chromosome location (bp)
56593699 - 56595611
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Chondrogenesis, Differentiation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] 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:0003149[membranous septum morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003203[endocardial cushion morphogenesis] GO:0003223[ventricular compact myocardium morphogenesis] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0007224[smoothened signaling pathway] 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:0007492[endoderm development] GO:0008045[motor neuron axon guidance] GO:0008283[cell population proliferation] GO:0008542[visual learning] GO:0008543[fibroblast growth factor receptor signaling pathway] GO:0009953[dorsal/ventral pattern formation] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0019955[cytokine binding] GO:0021510[spinal cord development] GO:0021533[cell differentiation in hindbrain] GO:0021915[neural tube development] GO:0021983[pituitary gland development] GO:0030154[cell differentiation] 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:0030900[forebrain development] GO:0035019[somatic stem cell population maintenance] GO:0035640[exploration behavior] GO:0042060[wound healing] GO:0042305[specification of segmental identity, mandibular segment] GO:0042474[middle ear morphogenesis] GO:0042733[embryonic digit morphogenesis] GO:0042803[protein homodimerization activity] GO:0045596[negative regulation of cell differentiation] GO:0045668[negative regulation of osteoblast differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048168[regulation of neuronal synaptic plasticity] 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:0048863[stem cell differentiation] GO:0050673[epithelial cell proliferation] GO:0050679[positive regulation of epithelial cell proliferation] GO:0051216[cartilage development] GO:0055009[atrial cardiac muscle tissue morphogenesis] GO:0060044[negative regulation of cardiac muscle cell proliferation] GO:0060173[limb development] GO:0060272[embryonic skeletal joint morphogenesis] GO:0060291[long-term synaptic potentiation] GO:0060302[negative regulation of cytokine activity] GO:0060325[face morphogenesis] GO:0060394[negative regulation of pathway-restricted SMAD protein phosphorylation] GO:0060412[ventricular septum morphogenesis] 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:0061312[BMP signaling pathway involved in heart development] GO:0061384[heart trabecula morphogenesis] GO:0061626[pharyngeal arch artery morphogenesis] 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:0098793[presynapse] GO:0099171[presynaptic modulation of chemical synaptic transmission] GO:1904888[cranial skeletal system development] GO:1905006[negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation] GO:1990926[short-term synaptic potentiation] 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]
The Human Protein Atlas project is funded
