Property Summary

NCBI Gene PubMed Count 202
Grant Count 23
R01 Count 7
Funding $3,577,420.87
PubMed Score 328.76
PubTator Score 310.52

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (70)

Disease Z-score Confidence
Ehlers-Danlos syndrome 42 7.751 3.9
Pneumothorax 17 3.766 1.9
Aortic aneurysm 34 3.735 1.9
Loeys-Dietz syndrome 23 3.52 1.8
Osteogenesis imperfecta 34 3.306 1.7
Clubfoot 35 3.238 1.6
Hypermobility syndrome 17 3.19 1.6
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 1
Acrogeria 1
Acrogeria, gottron type 1
Amyotrophic Lateral Sclerosis 431
Aortic valve insufficiency 22
Becker muscular dystrophy 187
Breast cancer 3,094
Carcinoma 2,147 1.0
Drug-Induced Liver Injury 118
Duchenne muscular dystrophy 602
Ehlers-Danlos Syndrome, Type IV 2
Ehlers-Danlos syndrome, type 3 (disorder... 2 
Endomyocardial Fibrosis 10
Fatty Liver 48
Fibrosis 40
Hypercholesterolemia 27
Hyperglycemia 120
Hyperinsulinism 63
Hypertensive disease 193
Keloid 34
Left Ventricular Hypertrophy 24
Liver Cirrhosis 101
Liver Cirrhosis, Alcoholic 16
Liver Cirrhosis, Experimental 108
Liver diseases 66
Muscular Dystrophy, Facioscapulohumeral 12
Schizophrenia 501
Ureteral obstruction 6
astrocytoma 1,493
atypical teratoid / rhabdoid tumor 4,369
chronic kidney disease 90
esophageal adenocarcinoma 737
fascioscapulohumeral muscular dystrophy 100
gastric carcinoma 832
glioblastoma 5,572
head and neck cancer 270
head and neck cancer and chronic obstruc... 237 
interstitial lung disease 291
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2A 156
lung adenocarcinoma 2,713
lung cancer 4,466
medulloblastoma, large-cell 6,234
nasopharyngeal carcinoma 1,056
nephrosclerosis 329
non-small cell lung cancer 2,798
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
posterior fossa group A ependymoma 1,511
primary Sjogren syndrome 789
primary pancreatic ductal adenocarcinoma 1,271
primitive neuroectodermal tumor 3,031
pterygium 74
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287
ulcerative colitis 2,087
urothelial carcinoma 318

Expression

  Differential Expression (39)

Gene RIF (121)

PMID Text
26497932 A novel missense mutation in COL3A1 was found in a young patient with cervical artery dissection as the single manifestation of Ehlers-Danlos syndrome.
26406420 High serum Collagen Type III is associated with ovarian and breast cancer.
26258650 TGFbeta target genes including TGFBI, BAMBI, COL3A1 and SERPINE1 are significantly increased in Diamond Blackfan Anemia induced pluripotent stem cells
26017485 In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS.
25893343 Report dysregulated expression of COL3A1 in disc degeneration.
25846194 compare reported phenotypes for patients with missense variants in the C-propeptide domain for other human collagen disorders including COL1A1 and COL1A2 (osteogenesis imperfecta).
25786138 miR-29a and miR-29b enhance cell migration and invasion in nasopharyngeal carcinoma progression by regulating SPARC and COL3A1 gene expression.
25758994 the clinical phenotype of Ehlers-Danlos syndrome patients is influenced by the type of COL3A1 variant.
25559610 Data indicate that N-terminal propeptide of type III procollagen (PIIINP) is a highly effective means to evaluate left ventricular (LV) end-diastolic pressure (EDP) in patients with acute coronary syndrome (ACS).
25432063 intracellular S1P plays a crucial role in the TGF-beta1-induced expression of Col alpha1(I) and Col alpha1(III), which is required for human fibrosis development.
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AA Sequence

MMSFVQKGSWLLLALLHPTIILAQQEAVEGGCSHLGQSYADRDVWKPEPCQICVCDSGSVLCDDIICDDQ      1 - 70
ELDCPNPEIPFGECCAVCPQPPTAPTRPPNGQGPQGPKGDPGPPGIPGRNGDPGIPGQPGSPGSPGPPGI     71 - 140
CESCPTGPQNYSPQYDSYDVKSGVAVGGLAGYPGPAGPPGPPGPPGTSGHPGSPGSPGYQGPPGEPGQAG    141 - 210
PSGPPGPPGAIGPSGPAGKDGESGRPGRPGERGLPGPPGIKGPAGIPGFPGMKGHRGFDGRNGEKGETGA    211 - 280
PGLKGENGLPGENGAPGPMGPRGAPGERGRPGLPGAAGARGNDGARGSDGQPGPPGPPGTAGFPGSPGAK    281 - 350
GEVGPAGSPGSNGAPGQRGEPGPQGHAGAQGPPGPPGINGSPGGKGEMGPAGIPGAPGLMGARGPPGPAG    351 - 420
ANGAPGLRGGAGEPGKNGAKGEPGPRGERGEAGIPGVPGAKGEDGKDGSPGEPGANGLPGAAGERGAPGF    421 - 490
RGPAGPNGIPGEKGPAGERGAPGPAGPRGAAGEPGRDGVPGGPGMRGMPGSPGGPGSDGKPGPPGSQGES    491 - 560
GRPGPPGPSGPRGQPGVMGFPGPKGNDGAPGKNGERGGPGGPGPQGPPGKNGETGPQGPPGPTGPGGDKG    561 - 630
DTGPPGPQGLQGLPGTGGPPGENGKPGEPGPKGDAGAPGAPGGKGDAGAPGERGPPGLAGAPGLRGGAGP    631 - 700
PGPEGGKGAAGPPGPPGAAGTPGLQGMPGERGGLGSPGPKGDKGEPGGPGADGVPGKDGPRGPTGPIGPP    701 - 770
GPAGQPGDKGEGGAPGLPGIAGPRGSPGERGETGPPGPAGFPGAPGQNGEPGGKGERGAPGEKGEGGPPG    771 - 840
VAGPPGGSGPAGPPGPQGVKGERGSPGGPGAAGFPGARGLPGPPGSNGNPGPPGPSGSPGKDGPPGPAGN    841 - 910
TGAPGSPGVSGPKGDAGQPGEKGSPGAQGPPGAPGPLGIAGITGARGLAGPPGMPGPRGSPGPQGVKGES    911 - 980
GKPGANGLSGERGPPGPQGLPGLAGTAGEPGRDGNPGSDGLPGRDGSPGGKGDRGENGSPGAPGAPGHPG    981 - 1050
PPGPVGPAGKSGDRGESGPAGPAGAPGPAGSRGAPGPQGPRGDKGETGERGAAGIKGHRGFPGNPGAPGS   1051 - 1120
PGPAGQQGAIGSPGPAGPRGPVGPSGPPGKDGTSGHPGPIGPPGPRGNRGERGSEGSPGHPGQPGPPGPP   1121 - 1190
GAPGPCCGGVGAAAIAGIGGEKAGGFAPYYGDEPMDFKINTDEIMTSLKSVNGQIESLISPDGSRKNPAR   1191 - 1260
NCRDLKFCHPELKSGEYWVDPNQGCKLDAIKVFCNMETGETCISANPLNVPRKHWWTDSSAEKKHVWFGE   1261 - 1330
SMDGGFQFSYGNPELPEDVLDVHLAFLRLLSSRASQNITYHCKNSIAYMDQASGNVKKALKLMGSNEGEF   1331 - 1400
KAEGNSKFTYTVLEDGCTKHTGEWSKTVFEYRTRKAVRLPIVDIAPYDIGGPDQEFGVDVGPVCFL       1401 - 1466
//

Text Mined References (210)

PMID Year Title
26497932 2015 Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome.
26406420 2015 Collagen degradation products measured in serum can separate ovarian and breast cancer patients from healthy controls: A preliminary study.
26258650 2015 Dysregulation of the Transforming Growth Factor ? Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.
26017485 2015 First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
25893343 2015 Dysregulated COL3A1 and RPL8, RPS16, and RPS23 in Disc Degeneration Revealed by Bioinformatics Methods.
25846194 2015 Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
25786138 2015 miR-29a/b enhances cell migration and invasion in nasopharyngeal carcinoma progression by regulating SPARC and COL3A1 gene expression.
25758994 2015 The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
25559610 2015 The N-terminal propeptide of type III procollagen in patients with acute coronary syndrome: a link between left ventricular end-diastolic pressure and cardiovascular events.
25432063 2015 Intracellular sphingosine 1-phosphate contributes to collagen expression of hepatic myofibroblasts in human liver fibrosis independent of its receptors.
More...