Property Summary

NCBI Gene PubMed Count 272
Grant Count 94
R01 Count 52
Funding $7,921,109.9
PubMed Score 365.83
PubTator Score 1267.10

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (76)

Disease Z-score Confidence
Osteogenesis imperfecta 34 7.87 3.9
Dentinogenesis imperfecta 24 5.93 3.0
Ehlers-Danlos syndrome 42 5.33 2.7
Systemic scleroderma 66 4.236 2.1
Bruck syndrome 8 4.007 2.0
Otosclerosis 13 3.79 1.9
Caffey disease 5 3.569 1.8
Osteoporosis 257 3.562 1.8
Dentin dysplasia 19 3.107 1.6
Scoliosis 40 3.102 1.6
Atopic dermatitis 944
Attention deficit hyperactivity disorder 156 2.0
Becker muscular dystrophy 187
Breast cancer 3,094
Carcinoma 2,147 1.0
Chronic obstructive pulmonary disease 146 1.0
Degenerative polyarthritis 93
Duchenne muscular dystrophy 602
EDS VIIB 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA T... 3 
Ehlers-Danlos syndrome, cardiac valvular... 1 
Fibrosis 40
Heart valve disease 24
Lobstein's Disease 2
Oral Submucous Fibrosis 18
Osteogenesis imperfecta type III (disord... 11 
Osteogenesis imperfecta type IV (disorde... 10 
Osteogenesis imperfecta, dominant perina... 2 
Osteogenesis imperfecta, recessive perin... 2 
Osteoporosis, Postmenopausal 7
Pick disease 1,893
Spontaneous abortion 108
Type 1 diabetes mellitus 101 2.0
active Crohn's disease 918
astrocytoma 1,493
atypical teratoid / rhabdoid tumor 4,369
autosomal dominant Emery-Dreifuss muscul... 499 
breast carcinoma 1,614
colon cancer 1,475
cystic fibrosis 1,665
diabetes mellitus 1,663
ductal carcinoma in situ 1,745
esophageal adenocarcinoma 737
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 
invasive ductal carcinoma 2,950
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
pituitary cancer 1,972
posterior fossa group A ependymoma 1,511
primary Sjogren syndrome 789
primary pancreatic ductal adenocarcinoma 1,271
primitive neuroectodermal tumor 3,031
psoriasis 6,685
pterygium 74
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287
ulcerative colitis 2,087
urothelial carcinoma 318

Expression

  Differential Expression (48)

Disease log2 FC p
nephrosclerosis 1.207 0.018
interstitial lung disease 2.500 0.003
urothelial carcinoma 4.500 0.000
posterior fossa group A ependymoma 3.000 0.000
esophageal adenocarcinoma 2.500 0.018
astrocytoma 1.200 0.001
glioblastoma 3.800 0.013
oligodendroglioma 1.300 0.001
osteosarcoma 4.780 0.000
sonic hedgehog group medulloblastoma 4.400 0.000
atypical teratoid / rhabdoid tumor 3.300 0.000
medulloblastoma, large-cell 3.700 0.000
primitive neuroectodermal tumor 2.500 0.007
Duchenne muscular dystrophy 4.062 0.000
limb girdle muscular dystrophy 2A 2.537 0.001
Becker muscular dystrophy 2.581 0.014
juvenile dermatomyositis 2.923 0.000
autosomal dominant Emery-Dreifuss muscul... 1.238 0.004
Atopic dermatitis -1.600 0.003
primary pancreatic ductal adenocarcinoma 5.369 0.000
non-small cell lung cancer 2.581 0.000
intraductal papillary-mucinous adenoma (... -2.600 0.016
intraductal papillary-mucinous carcinoma... -2.000 0.046
colon cancer 1.900 0.008
lung cancer 2.100 0.000
active Crohn's disease 2.113 0.039
ulcerative colitis 3.700 0.000
pancreatic cancer 5.200 0.000
diabetes mellitus -1.600 0.038
Breast cancer 5.000 0.000
cystic fibrosis 1.200 0.023
lung adenocarcinoma 2.328 0.000
pediatric high grade glioma 2.600 0.000
pilocytic astrocytoma 2.400 0.000
primary Sjogren syndrome 1.800 0.015
psoriasis -1.200 0.000
subependymal giant cell astrocytoma 4.263 0.006
invasive ductal carcinoma 1.299 0.036
nasopharyngeal carcinoma 2.600 0.000
breast carcinoma 1.600 0.000
Pick disease 1.600 0.012
gastric carcinoma 3.700 0.008
pterygium 1.900 0.033
ductal carcinoma in situ 1.500 0.015
ovarian cancer -2.900 0.000
pituitary cancer -2.300 0.000
head and neck cancer -1.500 0.040
head and neck cancer and chronic obstruc... 1.100 0.031

Gene

PDB

5CTD   5CTI   5CVA  

Gene RIF (161)

PMID Text
27454992 Two gross deletions have been found in the genes coding for collagen type I in the Chinese osteogenesis imperfecta population, and the deletion of exons 17 to 23 in the COL1A2 gene is a novel mutation.
26471105 COL1A2 mutation is associated with atypical osteogenesis imperfect.
26452701 Early type I collagen deposition in the liver is associated with disease progression in biliary atresia.
26260940 Using TCGA analysis, COL1A1 and COL1A2 were found to be up-regulated, which could provide a molecular explanation for the development of blastic metastases.
26235824 Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.
26065693 analysis of COL1A2 (type I collagen) polymorphisms in the central-eastern Mediterranean Basin
25944380 Collagen I mutation analysis(COL1A1 and COL1A2 ) was performed in the family of 97% of known cases, with causative mutations found in 87%. Qualitative mutations caused 32% of Osteogenesis imperfecta type I.
25858481 Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.
25692237 Data indicate that LA motif protein LARP6 binding to spliced leader RNA (5'SL) of collagen alpha2(I) mRNA is more stable than the binding to 5'SL of alpha1(I) mRNA.
25608812 The novel c.946G>T/p.G316C mutation in COL1A2 gene is associated with with osteogenesis imperfecta type I.
More...

AA Sequence

MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTGPPGPPGPPGP      1 - 70
PGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGK     71 - 140
AGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTP    141 - 210
GQTGARGLPGERGRVGAPGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAG    211 - 280
PRGEVGLPGLSGPVGPPGNPGANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGP    281 - 350
AGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPP    351 - 420
GSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPIGPAGARGEPG    421 - 490
NIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGP    491 - 560
SGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNKGEPGVVGAV    561 - 630
GTAGPSGPSGLPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAG    631 - 700
PAGPAGPRGSPGERGEVGPAGPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGP    701 - 770
PGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPP    771 - 840
GFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPG    841 - 910
AVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGE    911 - 980
TGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGDQGAPGSVGPA    981 - 1050
GPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRAD   1051 - 1120
QPRSAPSLRPKDYEVDATLKSLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDA   1121 - 1190
IKVYCDFSTGETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLL   1191 - 1260
ANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKKTNEWGKTIIE   1261 - 1330
YKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK                                     1331 - 1366
//

Text Mined References (278)

PMID Year Title
27454992 2016 [Analysis of gross deletions of COL1A1/2 genes in Chinese families affected with osteogenesis imperfecta].
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26471105 2016 Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.
26452701 2016 Early type I collagen deposition is associated with prognosis in biliary atresia.
26260940 2016 Influence of Hormone Receptor Status on Spinal Metastatic Lesions in Patients with Breast Cancer.
26235824 2016 Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.
26065693 2016 Variability and distribution of COL1A2 (type I collagen) polymorphisms in the central-eastern Mediterranean Basin.
25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
25858481 2015 Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2.
25692237 2014 Characterization of binding of LARP6 to the 5' stem-loop of collagen mRNAs: implications for synthesis of type I collagen.
More...