Property Summary

NCBI Gene PubMed Count 124
Grant Count 29
R01 Count 17
Funding $6,185,583.06
PubMed Score 318.63
PubTator Score 285.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Disease log2 FC p
malignant mesothelioma -1.400 0.000
cutaneous lupus erythematosus -1.200 0.030
psoriasis 1.500 0.001
posterior fossa group A ependymoma 2.000 0.000
atypical teratoid / rhabdoid tumor 2.000 0.000
lung cancer 3.100 0.000
active Crohn's disease 1.253 0.026
breast carcinoma 1.400 0.011
fibroadenoma 2.300 0.024
interstitial cystitis -1.400 0.000
group 4 medulloblastoma -2.700 0.000
lung adenocarcinoma -1.300 0.000
nasopharyngeal carcinoma 1.500 0.039
inflammatory breast cancer -1.600 0.011
Pick disease -1.700 0.004
progressive supranuclear palsy -1.800 0.030
ductal carcinoma in situ 1.300 0.039
ovarian cancer -3.100 0.000
pituitary cancer -2.700 0.000
Down syndrome 1.600 0.002

Gene RIF (74)

PMID Text
26179878 New deletion in COL4A6/COL4A5 related to diffuse esophageal leiomyomatosis associated with Alport syndrome in a Chinese family.
25992553 alpha5(IV), but not alpha1(IV), promotes lung cancer cell proliferation and tumor angiogenesis through non-integrin collagen receptor DDR1-mediated ERK activation.
25840998 the intima+media of IPAH vessels, collagens (COL4A5, COL14A1, and COL18A1), matrix metalloproteinase (MMP) 19, and a disintegrin and metalloprotease (ADAM) 33 were higher expressed, whereas MMP10, ADAM17, TIMP1, and TIMP3 were less abundant.
25739341 Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
25633161 Case Report: subepidermal blistering disease with autoantibodies to multiple laminin subunits which developed autoantibodies to COL4A5 associated with membranous glomerulonephropathy.
25575550 we identified seven families with associated mutations in COL4A3 and COL4A4 genes and four families with associated mutations in COL4A4 and COL4A5. We did not find kindreds with digenic inheritance attributable to mutations in COL4A3 and COL4A5
25572247 We identified a nucleotide change 1226 G>A, causing amino acid substitutions of Gly to Asp at position 409, in hemizygosis in the exon 20 of COL4A5 gene (proband 16 and the 13 in Alport syndrome pedigree
25307721 New COL4A5 mutations among Portuguese patients with collagen IV-related nephropathies were identified in unrelated individuals.
25183659 we report 10 intronic mutations and one exonic mutation that produce aberrant splicing, including four deep intronic mutations that produced cryptic exons.
25110662 These results broadens the mutation spectrum in the COL4A5 gene associated with Alport syndrome.
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AA Sequence

MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPGLPGFPGPEGP      1 - 70
PGPRGQKGDDGIPGPPGPKGIRGPPGLPGFPGTPGLPGMPGHDGAPGPQGIPGCNGTKGERGFPGSPGFP     71 - 140
GLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPGIQGLPGPTGIPGPIGPPGPPGLMGPPGPPG    141 - 210
LPGPKGNMGLNFQGPKGEKGEQGLQGPPGPPGQISEQKRPIDVEFQKGDQGLPGDRGPPGPPGIRGPPGP    211 - 280
PGGEKGEKGEQGEPGKRGKPGKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPG    281 - 350
TGITIGEKGNIGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPG    351 - 420
PPGLDGQPGAPGLPGPPGPAGPHIPPSDEICEPGPPGPPGSPGDKGLQGEQGVKGDKGDTCFNCIGTGIS    421 - 490
GPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGFPGSKGEPGDILTFPGMKGDK    491 - 560
GELGSPGAPGLPGLPGTPGQDGLPGLPGPKGEPGGITFKGERGPPGNPGLPGLPGNIGPMGPPGFGPPGP    561 - 630
VGEKGIQGVAGNPGQPGIPGPKGDPGQTITQPGKPGLPGNPGRDGDVGLPGDPGLPGQPGLPGIPGSKGE    631 - 700
PGIPGIGLPGPPGPKGFPGIPGPPGAPGTPGRIGLEGPPGPPGFPGPKGEPGFALPGPPGPPGLPGFKGA    701 - 770
LGPKGDRGFPGPPGPPGRTGLDGLPGPKGDVGPNGQPGPMGPPGLPGIGVQGPPGPPGIPGPIGQPGLHG    771 - 840
IPGEKGDPGPPGLDVPGPPGERGSPGIPGAPGPIGPPGSPGLPGKAGASGFPGTKGEMGMMGPPGPPGPL    841 - 910
GIPGRSGVPGLKGDDGLQGQPGLPGPTGEKGSKGEPGLPGPPGPMDPNLLGSKGEKGEPGLPGIPGVSGP    911 - 980
KGYQGLPGDPGQPGLSGQPGLPGPPGPKGNPGLPGQPGLIGPPGLKGTIGDMGFPGPQGVEGPPGPSGVP    981 - 1050
GQPGSPGLPGQKGDKGDPGISSIGLPGLPGPKGEPGLPGYPGNPGIKGSVGDPGLPGLPGTPGAKGQPGL   1051 - 1120
PGFPGTPGPPGPKGISGPPGNPGLPGEPGPVGGGGHPGQPGPPGEKGKPGQDGIPGPAGQKGEPGQPGFG   1121 - 1190
NPGPPGLPGLSGQKGDGGLPGIPGNPGLPGPKGEPGFHGFPGVQGPPGPPGSPGPALEGPKGNPGPQGPP   1191 - 1260
GRPGLPGPEGPPGLPGNGGIKGEKGNPGQPGLPGLPGLKGDQGPPGLQGNPGRPGLNGMKGDPGLPGVPG   1261 - 1330
FPGMKGPSGVPGSAGPEGEPGLIGPPGPPGLPGPSGQSIIIKGDAGPPGIPGQPGLKGLPGPQGPQGLPG   1331 - 1400
PTGPPGDPGRNGLPGFDGAGGRKGDPGLPGQPGTRGLDGPPGPDGLQGPPGPPGTSSVAHGFLITRHSQT   1401 - 1470
TDAPQCPQGTLQVYEGFSLLYVQGNKRAHGQDLGTAGSCLRRFSTMPFMFCNINNVCNFASRNDYSYWLS   1471 - 1540
TPEPMPMSMQPLKGQSIQPFISRCAVCEAPAVVIAVHSQTIQIPHCPQGWDSLWIGYSFMMHTSAGAEGS   1541 - 1610
GQALASPGSCLEEFRSAPFIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAGDLRTRISRCQV   1611 - 1680
CMKRT                                                                    1681 - 1685
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Text Mined References (126)

PMID Year Title
26179878 2015 Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
25992553 2015 Minor Type IV Collagen ?5 Chain Promotes Cancer Progression through Discoidin Domain Receptor-1.
25840998 2015 Compartment-specific expression of collagens and their processing enzymes in intrapulmonary arteries of IPAH patients.
25739341 2015 Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
25633161 2015 A case of subepidermal blistering disease with autoantibodies to multiple laminin subunits who developed later autoantibodies to alpha-5 chain of type IV collagen associated with membranous glomerulonephropathy.
25575550 2015 Evidence of digenic inheritance in Alport syndrome.
25572247 2014 Alport syndrome in a Kazakh family: a case study.
25307721 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
25183659 2014 X-linked Alport syndrome caused by splicing mutations in COL4A5.
25110662 2014 A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.
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