Property Summary

NCBI Gene PubMed Count 75
PubMed Score 1424.11
PubTator Score 290.31

Knowledge Summary


No data available


  Disease (6)

Disease Target Count Z-score Confidence
Osteogenesis imperfecta 34 4.752 2.4
Disease Target Count
Osteogenesis imperfecta 10 1


  Differential Expression (23)

Disease log2 FC p
posterior fossa group A ependymoma 2.200 5.0e-10
esophageal adenocarcinoma 1.400 1.9e-02
psoriasis 2.300 1.0e-03
glioblastoma 2.400 1.5e-05
osteosarcoma 3.676 3.5e-06
astrocytoma 1.100 4.6e-02
atypical teratoid / rhabdoid tumor 3.200 5.6e-08
medulloblastoma, large-cell 1.300 1.4e-02
primitive neuroectodermal tumor 1.800 7.2e-04
Becker muscular dystrophy 1.071 2.7e-05
primary pancreatic ductal adenocarcinoma 2.772 1.4e-04
non-small cell lung cancer 1.107 8.0e-11
intraductal papillary-mucinous adenoma (... -1.200 4.4e-03
pancreatic cancer 2.600 1.4e-03
pediatric high grade glioma 2.000 4.7e-06
pilocytic astrocytoma 1.200 4.2e-03
sonic hedgehog group medulloblastoma 1.400 4.6e-04
subependymal giant cell astrocytoma 1.789 1.2e-02
lung adenocarcinoma 1.476 3.9e-09
Breast cancer 1.100 3.7e-05
gastric carcinoma 1.700 2.4e-02
ovarian cancer 2.800 4.1e-05
pituitary cancer -1.200 1.0e-02

 GWAS Trait (1)

Gene RIF (49)

26692483 Although the chemical chaperone 4-PBA partially restores the solubility of the Hsp47 OI mutants, collagen-binding activity of Hsp47 was not improved.
26091621 Data show that the expression of heat shock protein 47 (HSP47) was increased in the peripheral blood mononuclear cells and plasma from scleroderma patients.
25758142 The present study demonstrates that HSP47 promotes glioma angiogenesis and highlights the importance of HSP47 as an attractive therapeutic target of GBM.
25744716 Hsp47 expression promotes cancer progression in part by enhancing deposition of extracellular matrix proteins.
25510505 Mutations in the HSP47 and FKBP65 produce a moderately severe form of Osteogenesis imperfect.
25111595 In patients with schistosomiasis japonica, TGF-beta1 participates not only in the inflammatory process, but also in the fibrotic process in which Hsp47 and CTGF probably play a key role.
24650661 miR-29b down-regulates HSP47 and LOX expression.
24623841 HSP47 is a novel glioma-associated antigen
24534724 IL-17A-induced HSP47 expression is involved in collagen I expression in intestinal subepithelial myofibroblasts, which might contribute to intestinal fibrosis in Crohn's disease.
24141696 silencing of the HSP47 gene significantly inhibited cell migration and invasion in cancer cells and the expression of HSP47 was upregulated in cancer tissues and cervical intraepithelial neoplasia, as demonstrated by immunostaining.
23587601 TRAIL induced HSF1 inactivation leads to the suppression of Hsp47-dependent collagen production in activated human hepatic stellate cells.
23265436 Correlative Hsp47 expression in fibroblasts with bFGF in inflammatory cells may contribute to stromal fibrosis and obstruction in colorectal carcinoma
23125841 Tandem affinity purification and mass spectrometry analysis identify 47 kDa heat shock protein (HSP47, serpin H1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
23049894 NMR and mutational identification of the collagen-binding site of the chaperone Hsp47
22967132 Hsp47 may be related to the TGF-beta1-induced transdifferentiation of human Tenon's fibroblasts to myofibroblasts.
22235129 Hsp47 recognizes the triple-helix form of procollagen in vitro and in vivo.
22190034 Tandem affinity purification and mass spectrometry analysis identify 47 kDa heat shock protein (HSP47, serpin H1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells
21187648 Overexpression of HSP47 decreased the secretion of heterotrimers containing the mutant collagen alpha5(IV) chain.
20701077 HSP47 and fascin expression may play role in the pathogenesis of invasive ductal carcinoma of the breast and prostatic adenocarcinoma because their expression is significantly higher than their normal counterpart.
20112500 Increased heat shock protein 47 expression is associated with esophageal squamous cell carcinoma.
20043075 down-regulated KLF4, CHGA, GPX3, SST and LIPF, together with up-regulated SERPINH1, THY1 and INHBA is an 8-gene signature for gastric cancer
19603022 overexpression of HSP47 is a unique characteristic of ulcerative colitis-associated carcinoma related to type I collagen synthesis, with possible clinical applications.
19527514 Observational study of gene-disease association. (HuGE Navigator)
19341245 Hsp47 was exposed on surface of GPVI-activated platelets; inhibition of Hsp47 abolished platelet aggregation in response to collagen, but partially reduced aggregation in response to other agonists; propose Hsp47 may play a role in hemostasis & thrombosis
19067716 We conclude that colligin 2 is expressed in all cellular components of glioma blood vessels and may serve as a general marker for active angiogenesis
19019335 Observational study of gene-disease association. (HuGE Navigator)
18818748 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18293509 During keratin preparation from cultured human tumor cell lines, Hsps might be associated with keratin expression in tumor cells
18205191 Observational study of gene-disease association. (HuGE Navigator)
18205191 These studies define a new haplotype in the SERPINH1 gene that modifies risk of an adverse obstetrical outcome.
18095990 HSP47-positive fibroblasts were main constituent cell of dermatofibroma.
18093617 The anti-fibrotic effect of pirfenidone may be mediated through direct inhibition of collagen type I expression and inhibition of HSP47 expression in lung fibroblasts.
16938879 Observational study of gene-disease association. (HuGE Navigator)
16938879 A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.
16484215 analysis of recognition of the collagen triple helix by chaperone HSP47
16326708 analysis of the client recognition mechanism of HSP47
16171977 results suggest nitric oxide has dual effects on collagen synthesis by fibroblasts: the direct stimulation of collagen synthesis due to the up-regulation of procollagen alphaI(1) mRNA, and an indirect effect through the increase of HSP47 mRNA expression
15955241 Our results suggest the existence of different fibrotic pathways among these groups involved in the expression of HSP47 and type I procollagen.
15806139 HSP47 is constitutively expressed in human hepatic stellate cells and may be a target for antifibrotic therapy.
15389525 The surface-exposed RA-A47 may induce autoantibodies and inflammatory reactions in autoimmune disease situations such as rheumatoid arthritis.
15247019 HSP47 has a role in aging and photoaging in human fibroblasts
15225209 Dermal wound healing in red Duroc pigs show unique mRNA expression of HSP47,BMP-1,TIMP1-3 and hypercontracted,hyperpigmented scars.
15047128 high levels of expression of Hsp47 and adult and oncofetal fibronectin in Dupuytren's contracture suggests that cell-mediated alterations in the extracellular environment may play an important role in the disease process
12824005 gene expression profiling in epidermolysis bullosa acquisita
12659832 levels of HSP47 protein and autoantibodies to HSP47 in the sera of patients with rheumatic autoimmune diseases
12174873 Modulates the production of the endostatin precursor collagen XVIII in head and neck carcinomas
12163502 Results indicate a novel means by which type I collagen production is regulated by the endoplasmic reticulum constituent, Hsp47.
12061838 induced in cicatricial pemphigoid: possible role(s) in dermal fibrosis
11994473 The enhancement of HSP47 expression by TGF-beta and IL-1 beta has been confirmed in embryonic lung fibroblasts.

AA Sequence


Text Mined References (80)

PMID Year Title
26692483 2016 Mutants of collagen-specific molecular chaperone Hsp47 causing osteogenesis imperfecta are structurally unstable with weak binding affinity to collagen.
26091621 2015 Involvement of collagen-binding heat shock protein 47 in scleroderma-associated fibrosis.
25758142 2016 Heat Shock Protein 47 Promotes Glioma Angiogenesis.
25744716 2015 Chaperone Hsp47 Drives Malignant Growth and Invasion by Modulating an ECM Gene Network.
25510505 2015 HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25204797 2014 Flotillin-1 facilitates toll-like receptor 3 signaling in human endothelial cells.
25111595 2015 Expression of heat shock protein 47, transforming growth factor-beta 1, and connective tissue growth factor in liver tissue of patients with Schistosoma japonicum-induced hepatic fibrosis.
24650661 2014 MiR-29b inhibits collagen maturation in hepatic stellate cells through down-regulating the expression of HSP47 and lysyl oxidase.
24623841 2014 CTL responses to HSP47 associated with the prolonged survival of patients with glioblastomas.
24534724 2014 Involvement of interleukin-17A-induced expression of heat shock protein 47 in intestinal fibrosis in Crohn's disease.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24172014 2013 Update of the human and mouse SERPIN gene superfamily.
24141696 2013 Tumor-suppressive microRNA-29a inhibits cancer cell migration and invasion via targeting HSP47 in cervical squamous cell carcinoma.
23587601 2013 TRAIL regulates collagen production through HSF1-dependent Hsp47 expression in activated hepatic stellate cells.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23265436 2013 Tumor budding, myofibroblast proliferation, and fibrosis in obstructing colon carcinoma: the roles of Hsp47 and basic fibroblast growth factor.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23049894 2012 NMR and mutational identification of the collagen-binding site of the chaperone Hsp47.
22967132 2012 Role of heat shock protein 47 in transdifferentiation of human tenon's fibroblasts to myofibroblasts.
22905912 2012 Resveratrol-induced changes of the human adipocyte secretion profile.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22235129 2012 Direct in vitro and in vivo evidence for interaction between Hsp47 protein and collagen triple helix.
22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
21269460 2011 Initial characterization of the human central proteome.
21187648 2010 Effect of HSP47 expression levels on heterotrimer formation among type IV collagen ?3, ?4 and ?5 chains.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20701077 2010 Comparison of the desmoplastic reaction and invading ability in invasive ductal carcinoma of the breast and prostatic adenocarcinoma based on the expression of heat shock protein 47 and fascin.
20188343 2010 Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
20112500 2009 Expression patterns of aurora kinase B, heat shock protein 47, and periostin in esophageal squamous cell carcinoma.
20043075 2010 An 8-gene signature, including methylated and down-regulated glutathione peroxidase 3, of gastric cancer.
19603022 2009 High expression of HSP47 in ulcerative colitis-associated carcinomas: proteomic approach.
19527514 2009 Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants.
19341245 2009 A functional proteomic method for the enrichment of peripheral membrane proteins reveals the collagen binding protein Hsp47 is exposed on the surface of activated human platelets.
19067716 2010 Expression sites of colligin 2 in glioma blood vessels.
19019335 2009 Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.
18818748 2008 Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.
18293509 2008 Unexpected expression of Hsp47, a replacement of one amino acid (Val 7 Leu) in the amino terminal region, in cultured human tumorigenic cell lines.
18205191 2008 A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans.
18095990 2008 Proliferation of HSP47-positive skin fibroblasts in dermatofibroma.
18093617 2008 Pirfenidone inhibits the expression of HSP47 in TGF-beta1-stimulated human lung fibroblasts.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16938879 2006 A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16484215 2006 Specific recognition of the collagen triple helix by chaperone HSP47. II. The HSP47-binding structural motif in collagens and related proteins.
16396496 2006 Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC).
16326708 2006 Specific recognition of the collagen triple helix by chaperone HSP47: minimal structural requirement and spatial molecular orientation.
16171977 2006 Exogenous nitric oxide enhances the synthesis of type I collagen and heat shock protein 47 by normal human dermal fibroblasts.
15955241 2005 Expression of HSP47 in usual interstitial pneumonia and nonspecific interstitial pneumonia.
15806139 2005 Expression of HSP47, a collagen-specific chaperone, in normal and diseased human liver.
15635413 2005 Nucleolar proteome dynamics.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15389525 2005 Downregulation of rheumatoid arthritis-related antigen RA-A47 (HSP47/colligin-2) in chondrocytic cell lines induces apoptosis and cell-surface expression of RA-A47 in association with CD9.
15308636 2004 Proteomics of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies ERGIC-32, a new cycling protein that interacts with human Erv46.
15247019 2004 Heat shock protein 47 expression in aged normal human fibroblasts: modulation by Salix alba extract.
15047128 2004 Wound healing-associated proteins Hsp47 and fibronectin are elevated in Dupuytren's contracture.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12824005 2003 Expression profiles of collagens, HSP47, TGF-beta1, MMPs and TIMPs in epidermolysis bullosa acquisita.
12659832 2003 Prevalence of HSP47 antigen and autoantibodies to HSP47 in the sera of patients with mixed connective tissue disease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12475206 2002 Serpin structure, mechanism, and function.
12174873 The production of the endostatin precursor collagen XVIII in head and neck carcinomas is modulated by CBP2/Hsp47.
12163502 2002 Functional linkage between the endoplasmic reticulum protein Hsp47 and procollagen expression in human vascular smooth muscle cells.
12145293 2002 Type XXVI collagen, a new member of the collagen family, is specifically expressed in the testis and ovary.
12061838 2002 Collagens, collagen-binding heat shock protein 47 and transforming growth factor-beta 1 are induced in cicatricial pemphigoid: possible role(s) in dermal fibrosis.
11994473 2002 Induction of heat shock protein 47 synthesis by TGF-beta and IL-1 beta via enhancement of the heat shock element binding activity of heat shock transcription factor 1.
11748222 2002 Functional interaction between coactivators CBP/p300, PCAF, and transcription factor FKLF2.
11572868 2001 TFIIH inhibits CDK9 phosphorylation during human immunodeficiency virus type 1 transcription.
11162551 2001 Molecular cloning of a novel ubiquitin-like protein, UBIN, that binds to ER targeting signal sequences.
11106745 2000 Competitive recruitment of CBP and Rb-HDAC regulates UBF acetylation and ribosomal transcription.
11052465 2000 Rheumatoid arthritis-related antigen 47kDa (RA-A47) is a product of colligin-2 and acts as a human HSP47.
10862616 2000 Conformational requirements of collagenous peptides for recognition by the chaperone protein HSP47.
10506936 1999 The possible role of colligin/HSP47, a collagen-binding protein, in the pathogenesis of human and experimental fibrotic diseases.
10227388 1999 Cell surface colligin/Hsp47 associates with tetraspanin protein CD9 in epidermoid carcinoma cell lines.
10023073 1999 The human genome has only one functional hsp47 gene (CBP2) and a pseudogene (pshsp47).
9588174 1998 Isolation and characterization of a rheumatoid arthritis-specific antigen (RA-A47) from a human chondrocytic cell line (HCS-2/8).
9533029 1997 Detailed map of a region commonly amplified at 11q13-->q14 in human breast carcinoma.
9272875 1997 Structure of the gene encoding human colligin-2 (CBP2).
7656593 1995 Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2).
1309665 1992 Cloning of a human collagen-binding protein, and its homology with rat gp46, chick hsp47 and mouse J6 proteins.