Property Summary

NCBI Gene PubMed Count 80
PubMed Score 74.26
PubTator Score 76.78

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
psoriasis 6685 1.54135265608271E-18
non-small cell lung cancer 2798 9.0233062116634E-15
adrenocortical carcinoma 1427 4.29379907261591E-11
pituitary cancer 1972 8.47628357580231E-9
lung adenocarcinoma 2714 1.68388717670078E-7
lung cancer 4473 2.62506145417202E-7
cystic fibrosis 1670 7.54200563110064E-6
pilocytic astrocytoma 3086 1.69906567293147E-4
primary Sjogren syndrome 789 2.25073496228107E-4
Atopic dermatitis 944 4.92469265309602E-4
acute quadriplegic myopathy 1157 0.00106600106131526
colon cancer 1475 0.00344772305103063
ductal carcinoma in situ 1745 0.0284646239769032
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0290504814458629
ileal Crohn's disease 9 0.0425865597051845
interstitial cystitis 2299 0.0434507508366415
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Alport syndrome 21 7.644 3.8

Expression

  Differential Expression (16)

Disease log2 FC p
cystic fibrosis 1.837 0.000
acute quadriplegic myopathy 1.004 0.001
Atopic dermatitis 1.600 0.000
adrenocortical carcinoma -3.079 0.000
non-small cell lung cancer -1.798 0.000
intraductal papillary-mucinous neoplasm ... -1.500 0.029
lung cancer -4.300 0.000
colon cancer -1.400 0.003
interstitial cystitis 1.300 0.043
pilocytic astrocytoma 1.600 0.000
primary Sjogren syndrome 2.100 0.000
lung adenocarcinoma -1.500 0.000
ductal carcinoma in situ 1.100 0.028
ileal Crohn's disease -1.294 0.043
pituitary cancer -3.200 0.000
psoriasis 1.200 0.000

Synonym

Accession P53420 A8MTZ1 Q53RW9 Q53S42 Q53WR1
Symbols CA44

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA Inparanoid
Cow OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid

Gene RIF (47)

PMID Text
25935259 Tetrastatin, the NC1 alpha 4 collagen IV domain level increases in pulmonary tumor extracts.
25651396 COL4A4 rs2229813 AA and GA+AA genotypes as well as the A allele play roles as risk factors for developing Keratoconus in our population.
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
25381091 COL4A4 missense variants [c.G2636A (p.Gly879Glu) and c.C4715T (p.Pro1572Leu)] in family 1. COL4A4 c.G2636A, a novel variant, co-segregated with renal disease among maternal relatives.
25307543 New COL4A4 mutations among Portuguese patients with collagen IV-related nephropathies were identified in 8 unrelated families.
25229338 We found that 7 out of 70 families (10%) with familial focal segmental glomerulosclerosis in our cohort have rare variants in COL4A3 and COL4A4.
25083577 We could hypothesize that mutations in COL4A3 and COL4A4 genes are not involved in keratoconus risk in Greek population.
24742657 HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1
24398087 COL4A4 related nephropathy caused by novel mutation in a large consanguineous Saudi family.
24052634 Twenty mutation pairs (50%) affected COL4A3 and 20 pairs affected COL4A4 in Alport syndrome.
More...

AA Sequence

MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPEKGSRGPPGPP      1 - 70
GPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGDKGDKGPTGVPGFPGLDGIPGHPGPPGPRGKPGMSG     71 - 140
HNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILGAVKGIQGDRGDPGLPGLPGSWGAGGPAGPT    141 - 210
GYPGEPGLVGPPGQPGRPGLKGNPGVGVKGQMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGM    211 - 280
VGLPGPPGRKGESGIGAKGEKGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRG    281 - 350
HPGPPGVLVTPPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPG    351 - 420
EAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGRGPKGEKGNEG    421 - 490
LCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGTKGDPGPPGAEGPPGLPGKHGASGPPGNKGAKGDMV    491 - 560
VSRVKGHKGERGPDGPPGFPGQPGSHGRDGHAGEKGDPGPPGDHEDATPGGKGFPGPLGPPGKAGPVGPP    561 - 630
GLGFPGPPGERGHPGVPGHPGVRGPDGLKGQKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQGAPGLS    631 - 700
GSDGHKGRPGTPGTAEIPGPPGFRGDMGDPGFGGEKGSSPVGPPGPPGSPGVNGQKGIPGDPAFGHLGPP    701 - 770
GKRGLSGVPGIKGPRGDPGCPGAEGPAGIPGFLGLKGPKGREGHAGFPGVPGPPGHSCERGAPGIPGQPG    771 - 840
LPGYPGSPGAPGGKGQPGDVGPPGPAGMKGLPGLPGRPGAHGPPGLPGIPGPFGDDGLPGPPGPKGPRGL    841 - 910
PGFPGFPGERGKPGAEGCPGAKGEPGEKGMSGLPGDRGLRGAKGAIGPPGDEGEMAIISQKGTPGEPGPP    911 - 980
GDDGFPGERGDKGTPGMQGRRGEPGRYGPPGFHRGEPGEKGQPGPPGPPGPPGSTGLRGFIGFPGLPGDQ    981 - 1050
GEPGSPGPPGFSGIDGARGPKGNKGDPASHFGPPGPKGEPGSPGCPGHFGASGEQGLPGIQGPRGSPGRP   1051 - 1120
GPPGSSGPPGCPGDHGMPGLRGQPGEMGDPGPRGLQGDPGIPGPPGIKGPSGSPGLNGLHGLKGQKGTKG   1121 - 1190
ASGLHDVGPPGPVGIPGLKGERGDPGSPGISPPGPRGKKGPPGPPGSSGPPGPAGATGRAPKDIPDPGPP   1191 - 1260
GDQGPPGPDGPRGAPGPPGLPGSVDLLRGEPGDCGLPGPPGPPGPPGPPGYKGFPGCDGKDGQKGPVGFP   1261 - 1330
GPQGPHGFPGPPGEKGLPGPPGRKGPTGLPGPRGEPGPPADVDDCPRIPGLPGAPGMRGPEGAMGLPGMR   1331 - 1400
GPSGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGYPGGPGPPGPIGDPGPKGFGPGYLGGFLLVL   1401 - 1470
HSQTDQEPTCPLGMPRLWTGYSLLYLEGQEKAHNQDLGLAGSCLPVFSTLPFAYCNIHQVCHYAQRNDRS   1471 - 1540
YWLASAAPLPMMPLSEEAIRPYVSRCAVCEAPAQAVAVHSQDQSIPPCPQTWRSLWIGYSFLMHTGAGDQ   1541 - 1610
GGGQALMSPGSCLEDFRAAPFLECQGRQGTCHFFANKYSFWLTTVKADLQFSSAPAPDTLKESQAQRQKI   1611 - 1680
SRCQVCVKYS                                                               1681 - 1690
//

Text Mined References (83)

PMID Year Title
25935259 2015 A competitive enzyme-linked immunosorbent assay for quantification of tetrastatin in body fluids and tumor extracts.
25651396 2015 Evaluation of possible relationship between COL4A4 gene polymorphisms and risk of keratoconus.
25575550 2015 Evidence of digenic inheritance in Alport syndrome.
25381091 2014 Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.
25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
25229338 2014 Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
25083577 2014 Polymorphism analysis of COL4A3 and COL4A4 genes in Greek patients with keratoconus.
24398087 2014 COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
24052634 2013 COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
24033287 2014 Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
More...