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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).
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
19
Cytoband
q13.2
Chromosome location (bp)
41301587 - 41353922
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of ion transport and metabolism Congenital malformations Congenital malformations of the musculoskeletal system Immune system diseases Allergies and autoimmune diseases Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000902[cell morphogenesis] GO:0001570[vasculogenesis] GO:0001657[ureteric bud development] GO:0001666[response to hypoxia] GO:0001763[morphogenesis of a branching structure] GO:0001775[cell activation] GO:0001837[epithelial to mesenchymal transition] GO:0001843[neural tube closure] GO:0002028[regulation of sodium ion transport] GO:0002069[columnar/cuboidal epithelial cell maturation] GO:0002460[adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains] GO:0002513[tolerance induction to self antigen] GO:0003179[heart valve morphogenesis] GO:0003180[aortic valve morphogenesis] GO:0005160[transforming growth factor beta receptor binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0006468[protein phosphorylation] GO:0006874[cellular calcium ion homeostasis] GO:0006954[inflammatory response] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007219[Notch signaling pathway] GO:0007406[negative regulation of neuroblast proliferation] GO:0007492[endoderm development] GO:0007507[heart development] GO:0007565[female pregnancy] GO:0007568[aging] GO:0008083[growth factor activity] GO:0008283[cell population proliferation] GO:0008354[germ cell migration] GO:0009314[response to radiation] GO:0009410[response to xenobiotic stimulus] GO:0009749[response to glucose] GO:0009986[cell surface] GO:0010033[response to organic substance] GO:0010467[gene expression] GO:0010468[regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010763[positive regulation of fibroblast migration] GO:0014003[oligodendrocyte development] GO:0014008[positive regulation of microglia differentiation] GO:0014070[response to organic cyclic compound] GO:0016202[regulation of striated muscle tissue development] GO:0021915[neural tube development] GO:0030141[secretory granule] GO:0030217[T cell differentiation] GO:0030279[negative regulation of ossification] GO:0030308[negative regulation of cell growth] GO:0030316[osteoclast differentiation] GO:0030424[axon] GO:0030879[mammary gland development] GO:0031012[extracellular matrix] GO:0031065[positive regulation of histone deacetylation] GO:0031100[animal organ regeneration] GO:0031536[positive regulation of exit from mitosis] GO:0032355[response to estradiol] GO:0032667[regulation of interleukin-23 production] GO:0032700[negative regulation of interleukin-17 production] GO:0032740[positive regulation of interleukin-17 production] GO:0032943[mononuclear cell proliferation] GO:0032967[positive regulation of collagen biosynthetic process] GO:0033280[response to vitamin D] GO:0034616[response to laminar fluid shear stress] GO:0035066[positive regulation of histone acetylation] GO:0035902[response to immobilization stress] GO:0042060[wound healing] GO:0042098[T cell proliferation] GO:0042110[T cell activation] GO:0042127[regulation of cell population proliferation] GO:0042130[negative regulation of T cell proliferation] GO:0042306[regulation of protein import into nucleus] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042482[positive regulation of odontogenesis] GO:0042552[myelination] GO:0042802[identical protein binding] GO:0043025[neuronal cell body] GO:0043029[T cell homeostasis] GO:0043065[positive regulation of apoptotic process] GO:0043129[surfactant homeostasis] GO:0043539[protein serine/threonine kinase activator activity] GO:0044877[protein-containing complex binding] GO:0045066[regulatory T cell differentiation] GO:0045589[regulation of regulatory T cell differentiation] GO:0045591[positive regulation of regulatory T cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046716[muscle cell cellular homeostasis] GO:0047485[protein N-terminus binding] GO:0048146[positive regulation of fibroblast proliferation] GO:0048286[lung alveolus development] GO:0048535[lymph node development] GO:0048565[digestive tract development] GO:0048839[inner ear development] GO:0050673[epithelial cell proliferation] GO:0050679[positive regulation of epithelial cell proliferation] GO:0050680[negative regulation of epithelial cell proliferation] GO:0050765[negative regulation of phagocytosis] GO:0050777[negative regulation of immune response] GO:0050832[defense response to fungus] GO:0050868[negative regulation of T cell activation] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051098[regulation of binding] GO:0051101[regulation of DNA binding] GO:0051152[positive regulation of smooth muscle cell differentiation] GO:0051280[negative regulation of release of sequestered calcium ion into cytosol] GO:0051726[regulation of cell cycle] GO:0051781[positive regulation of cell division] GO:0055010[ventricular cardiac muscle tissue morphogenesis] GO:0055091[phospholipid homeostasis] GO:0060325[face morphogenesis] GO:0060364[frontal suture morphogenesis] GO:0060389[pathway-restricted SMAD protein phosphorylation] GO:0060435[bronchiole development] GO:0060744[mammary gland branching involved in thelarche] GO:0060751[branch elongation involved in mammary gland duct branching] GO:0060762[regulation of branching involved in mammary gland duct morphogenesis] GO:0061035[regulation of cartilage development] GO:0061448[connective tissue development] GO:0061520[Langerhans cell differentiation] GO:0062023[collagen-containing extracellular matrix] GO:0070166[enamel mineralization] GO:0070168[negative regulation of biomineral tissue development] GO:0070306[lens fiber cell differentiation] GO:0071260[cellular response to mechanical stimulus] GO:0071363[cellular response to growth factor stimulus] GO:0071479[cellular response to ionizing radiation] GO:0071549[cellular response to dexamethasone stimulus] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0071677[positive regulation of mononuclear cell migration] GO:0072089[stem cell proliferation] GO:0085029[extracellular matrix assembly] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:0097421[liver regeneration] GO:0098586[cellular response to virus] GO:1900182[positive regulation of protein localization to nucleus] GO:1902074[response to salt] GO:1903911[positive regulation of receptor clustering] GO:1905313[transforming growth factor beta receptor signaling pathway involved in heart development] GO:1990314[cellular response to insulin-like growth factor stimulus] GO:1990402[embryonic liver development] GO:2000249[regulation of actin cytoskeleton reorganization] GO:2000648[positive regulation of stem cell proliferation]
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of ion transport and metabolism Congenital malformations Congenital malformations of the musculoskeletal system Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of ion transport and metabolism Congenital malformations Congenital malformations of the musculoskeletal system Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
