Property Summary

NCBI Gene PubMed Count 47
Grant Count 12
R01 Count 5
Funding $505,823.57
PubMed Score 41.20
PubTator Score 71.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (49)

Disease Z-score Confidence
Ehlers-Danlos syndrome 42 6.338 3.2
Hypermobility syndrome 17 4.115 2.1
Arterial tortuosity syndrome 6 3.165 1.6
Cervical incompetence 7 3.077 1.5
Mitral valve prolapse 15 3.012 1.5
Becker muscular dystrophy 187
Breast cancer 3,094
Carcinoma 2,147 1.0
Duchenne muscular dystrophy 602
Ehlers-Danlos syndrome type 1 3
Ehlers-Danlos syndrome type 2 2
Spontaneous abortion 108
X-linked cerebral adrenoleukodystrophy 115
acute quadriplegic myopathy 1,157
adrenocortical carcinoma 1,427
astrocytoma 1,493
autosomal dominant Emery-Dreifuss muscul... 499 
breast carcinoma 1,614
cystic fibrosis 1,665
ductal carcinoma in situ 1,745
esophageal adenocarcinoma 737
gastric carcinoma 832
glioblastoma 5,572
head and neck cancer 270
interstitial cystitis 2,299
interstitial lung disease 291
intraductal papillary-mucinous adenoma (... 2,956 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2B 74
lung adenocarcinoma 2,713
lung cancer 4,466
moderate Alzheimer's disease 1
nasopharyngeal carcinoma 1,056
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
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287
ulcerative colitis 2,085
urothelial carcinoma 318

Expression

  Differential Expression (40)

 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
//

Publication (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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