Property Summary

NCBI Gene PubMed Count 47
PubMed Score 41.20
PubTator Score 71.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
non-small cell lung cancer 2798 1.21439673939241E-18
Breast cancer 3099 3.051128904638E-17
juvenile dermatomyositis 1189 7.89367337129092E-12
breast carcinoma 1614 8.17370714132277E-12
Duchenne muscular dystrophy 602 8.12383837959721E-11
lung adenocarcinoma 2714 1.08016614445336E-7
primary pancreatic ductal adenocarcinoma 1271 3.08649472456361E-6
ovarian cancer 8492 4.65873524352297E-6
nasopharyngeal carcinoma 1056 5.40438460362716E-6
posterior fossa group A ependymoma 1511 1.23459695059285E-5
lung cancer 4473 6.52846346405823E-5
primary Sjogren syndrome 789 7.2075343315418E-5
ulcerative colitis 2087 9.52750216602704E-5
osteosarcoma 7933 1.88967397438062E-4
pancreatic cancer 2300 4.6870210451354E-4
urothelial carcinoma 318 6.36749316485766E-4
pediatric high grade glioma 2712 7.38704834682998E-4
interstitial cystitis 2299 7.75804047857061E-4
pituitary cancer 1972 0.00151580821750032
acute quadriplegic myopathy 1157 0.00252221822699944
pilocytic astrocytoma 3086 0.00683684349222101
cystic fibrosis 1670 0.00684380840655705
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00908973919672614
gastric carcinoma 832 0.0114684014605791
limb girdle muscular dystrophy 2B 74 0.0141365403605043
intraductal papillary-mucinous adenoma (IPMA) 2956 0.015574750529225
esophageal adenocarcinoma 737 0.018017719506268
Becker muscular dystrophy 187 0.0227959577437632
X-linked cerebral adrenoleukodystrophy 115 0.0231137813680533
invasive ductal carcinoma 2950 0.0256349026150799
adrenocortical carcinoma 1427 0.0286198495482383
head and neck cancer 270 0.0296621330672383
glioblastoma 5572 0.0320808430562883
oligodendroglioma 2849 0.0335245418277241
interstitial lung disease 292 0.0336276577297097
sonic hedgehog group medulloblastoma 1482 0.0347115617157635
ductal carcinoma in situ 1745 0.0362693800881278
subependymal giant cell astrocytoma 2287 0.0408635367028025
astrocytoma 1493 0.0435890377523561
moderate Alzheimer's disease 1 0.0481895315670107
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Ehlers-Danlos syndrome 42 6.338 3.2

Expression

  Differential Expression (40)

Synonym

Gene

PDB

1A9A  

  Ortholog (6)

Species Source
Mouse OMA Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG Inparanoid
Horse OMA Inparanoid
Opossum OMA EggNOG
Anole lizard OMA Inparanoid

 GWAS Trait (1)

Gene RIF (23)

PMID Text
25987251 COL5A2(+/-) humans, although unlikely to present with frank classic Ehlers-Danlos syndrome, are likely to have fragile connective tissues with increased susceptibility to trauma and certain chronic pathologic conditions.
23587214 data confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in classic Ehlers-danlos syndrome
23574622 Col5a2 shows predictive potential in myocardial infarction , and in principle may represent a novel candidate marker for the identification and treatment of ischemic cardiovascular disease
22696272 study shows that over 90% of patients, which strictly satisfy all major Villefranche criteria for classic Ehlers-Danlos Syndrome (EDS)harbor a type V collagen defect which indicates that this is the major--if not only--cause of classic EDS
22208904 This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous preterm delivery.
22132895 Before but not after developing bronchiolitis obliterans, lung transplantation patients had antibodies to Col-V, alpha2(V). Pep5-8 to alpha1,2(V) and pep9-14 to alpha2(V)were immunodominant.
20847697 role of mutations in Ehlers-Danlos syndrome (Review)
20673868 Observational study of gene-disease association. (HuGE Navigator)
20648054 Physical and laboratory examinations revealed that true haploinsufficiency of COL3A1, COL5A2, and MSTN, but not that of SLC40A1, leads to a clinical phenotype.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
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AA Sequence

MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQICVCDNGAIL      1 - 70
CDKIECQDVLDCADPVTPPGECCPVCSQTPGGGNTNFGRGRKGQKGEPGLVPVVTGIRGRPGPAGPPGSQ     71 - 140
GPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPSHPGPDGLSRPFSAQMAGLDEKSGLGSQVGL    141 - 210
MPGSVGPVGPRGPQGLQGQQGGAGPTGPPGEPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPGEVGF    211 - 280
AGSPGARGFPGAPGLPGLKGHRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQ    281 - 350
GAPGQRGAHGMPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPG    351 - 420
AIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAGPKGEPGPHGI    421 - 490
QGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPGNRGFPGSDGLPGPKGAQGERGPVGSSGPKGSQGDP    491 - 560
GRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPGPPGSIGIRGQPGSMGLPGPKGSSGDPGKPG    561 - 630
EAGNAGVPGQRGAPGKDGEVGPSGPVGPPGLAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGDQGVPGD    631 - 700
PGAVGPLGPRGERGNPGERGEPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPGDTGPPGLQGMPGERGIA    701 - 770
GTPGPKGDRGGIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVGPPGSRGNPGSRGENG    771 - 840
PTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRGTQGPPGATGF    841 - 910
PGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAGPPGGPGDKGDPGEDGQPGPD    911 - 980
GPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVGPTGATGDKGPPGPVGPPGSNGPVGEPGPEG    981 - 1050
PAGNDGTPGRDGAVGERGDRGDPGPAGLPGSQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGL   1051 - 1120
PGPQGPRGDKGDHGDRGDRGQKGHRGFTGLQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNP   1121 - 1190
GPLGPIGPPGVRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDD   1191 - 1260
KNKTDPGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSVEDAIKVYCNM   1261 - 1330
ETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSPNTAITQMTFLRLLSKEASQN   1331 - 1400
ITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIRFRYIVLQDTCSKRNGNVGKTVFEYRTQNVA   1401 - 1470
RLPIIDLAPVDVGGTDQEFGVEIGPVCFV                                            1471 - 1499
//

Text Mined References (48)

PMID Year Title
25987251 2015 Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.
23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
23574622 2013 Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease.
23154389 2013 Regulation of endodermal differentiation of human embryonic stem cells through integrin-ECM interactions.
22696272 2012 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
22208904 2011 Candidate gene analysis of spontaneous preterm delivery: new insights from re-analysis of a case-control study using case-parent triads and control-mother dyads.
22132895 2012 A shift in the collagen V antigenic epitope leads to T helper phenotype switch and immune response to self-antigen leading to chronic lung allograft rejection.
21757687 2011 A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens.
20847697 2010 Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
20673868 2010 A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
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