Property Summary

NCBI Gene PubMed Count 281
Grant Count 114
R01 Count 65
Funding $9,019,437.32
PubMed Score 689.33
PubTator Score 619.52

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (71)

Disease Z-score Confidence
Stickler syndrome 13 7.492 3.7
Osteochondrodysplasia 9 6.689 3.3
Osteoarthritis 96 6.047 3.0
Retinal detachment 33 4.959 2.5
Myopia 99 4.9 2.5
Cleft palate 125 4.631 2.3
Vitreous syneresis 6 4.563 2.3
Legg-Calve-Perthes Disease 8 4.142 2.1
Brachydactyly 52 3.921 2.0
Degenerative disc disease 28 3.859 1.9
Scoliosis 40 3.548 1.8
Osteonecrosis 25 3.501 1.8
Arthropathy 34 3.412 1.7
Chondrosarcoma 24 3.318 1.7
Scheuermann's disease 10 3.28 1.6
Tracheomalacia 13 3.098 1.5
Peripheral retinal degeneration 5 3.011 1.5
Ehlers-Danlos syndrome 42 3.008 1.5
Achondrogenesis 6 5.0
Achondrogenesis type 2 1
Arthritis 248
Arthritis, Experimental 39
Avascular Necrosis of Femur Head 1
Carcinoma 2,147 1.0
Cataract 104 4.0
Craniofacial Abnormalities 147
Czech dysplasia, metatarsal type 1
Degenerative polyarthritis 93
Edema 38
Epiphyseal Dysplasia, Multiple, with Myo... 1 
Erythema 4
Femur Head Necrosis 2
Hyaloideoretinal degeneration of Wagner 2
Hyperplasia 26
Hypochondrogenesis 3 5.0
Inflammation 109
Kniest dysplasia 3 5.0
Megaepiphyseal dwarfism 2
Melanoma 261
Osteoarthritis with Mild Chondrodysplasi... 1 
Osteochondrodysplasias 15
Pierre Robin syndrome with fetal chondro... 2 
Platyspondylic Lethal Skeletal Dysplasia... 1 
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOS... 1 
Sensorineural Hearing Loss (disorder) 11
Spondyloepimetaphyseal dysplasia, Strudw... 1  5.0
Spondyloepiphyseal Dysplasia 1
Spondyloepiphyseal dysplasia congenita 3 5.0
Spondyloepiphyseal dysplasia, congenita 1
Spondylometaphyseal dysplasia, 'corner f... 1 
Spondylometaphyseal dysplasia, Algerian ... 1 
Spondylometaphyseal dysplasia, Kozlowski... 2 
Spondyloperipheral dysplasia short ulna 1
Stickler Syndrome, Type I, Nonsyndromic ... 1 
Stickler syndrome (disorder) 1
Stickler syndrome, type 1 1
Strudwick syndrome 1
Synovitis 38
Vitreoretinopathy with Phalangeal Epiphy... 1 
Weight decreased 18
adult high grade glioma 2,148
atypical teratoid / rhabdoid tumor 4,369
gastric carcinoma 832
glioblastoma 5,572
group 3 medulloblastoma 2,254
lung cancer 4,466
medulloblastoma, large-cell 6,234
pilocytic astrocytoma 3,086
pituitary cancer 1,972
posterior fossa group A ependymoma 1,511
primitive neuroectodermal tumor 3,031

Expression

  Differential Expression (11)

Gene

PDB

1U5M   2FSE   2SEB  

Gene RIF (167)

PMID Text
27109135 Serum CTX-II levels in human brucellosis were higher than those of healthy controls but serum CTX-II levels in male patients were significantly higher than those of female patients indicating biological changes in cartilage and bone in human brucellosis.
26586363 Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia
26545783 Identified is a novel Col2a1 mutant mouse possessing a p.Tyr1391Ser missense mutation. Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in this line.
26345137 Constitutive mutation in COL2A1 gene is associated with Kniest dysplasia and chondrosarcoma.
26311224 estimated median of 95 months as compared to an estimated median of 16 months for subjects expressing other levels of COL2A1 and SLC6A10P
26250472 Dysspondyloenchondromatosis is associated with COL2A1 mutation.
26183434 Results identified a novel COL2A1 variant (c.619G>A, p.Gly207Arg) causing a distinct type II collagenopathy with features of progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
26037341 A novel missense mutation (c.905C>T, p.Ala302Val)found in the coding region of the COL2A1 gene is associated Kniest dysplasia.
26030151 a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene; genotype-phenotype relationship between mutations and clinical findings of Spondyloepiphyseal dysplasia congenita
25967556 c.2224G>A (p.Gly687Ser) is a novel mutation of COL2A1 associated with spondyloepiphyseal dysplasia congenital.
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AA Sequence

MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTGTVLCDDIICE      1 - 70
DVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDK     71 - 140
GEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRG    141 - 210
PPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGT    211 - 280
PGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQP    281 - 350
GPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKG    351 - 420
SAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGK    421 - 490
RGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGAR    491 - 560
GLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPGAPGLRG    561 - 630
LPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGE    631 - 700
RGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDV    701 - 770
GEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPG    771 - 840
ADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGS    841 - 910
NGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQR    911 - 980
GIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDG    981 - 1050
AAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGE   1051 - 1120
AGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPR   1121 - 1190
GRSGETGPAGPPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLK   1191 - 1260
SLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPAN   1261 - 1330
VPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYL   1331 - 1400
DEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVIEYRSQKTSRLPIIDIAPMDI   1401 - 1470
GGPEQEFGVDIGPVCFL                                                        1471 - 1487
//

Text Mined References (285)

PMID Year Title
27109135 2016 A Primary Investigation on Serum CTX-II Changes in Patients Infected with Brucellosis in Qinghai Plateau, China.
26586363 2016 Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.
26545783 2015 Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.
26311224 2016 Expression profile of COL2A1 and the pseudogene SLC6A10P predicts tumor recurrence in high-grade serous ovarian cancer.
26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
26183434 2015 Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
26037341 2015 [Kniest dysplasia due to mutation of COL2A1 gene].
26030151 2015 Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
25967556 2015 Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
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