Property Summary

NCBI Gene PubMed Count 32
PubMed Score 19.36
PubTator Score 24.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
ependymoma 2.600 1.8e-04
atypical teratoid / rhabdoid tumor 3.500 2.9e-05
glioblastoma 2.000 4.3e-06
non-small cell lung cancer -2.434 6.1e-24
lung cancer -3.100 2.1e-06
colon cancer -1.800 7.0e-05
pediatric high grade glioma 1.600 5.2e-06
pilocytic astrocytoma 1.300 7.9e-04
invasive ductal carcinoma -2.100 4.3e-03
lung carcinoma -1.300 6.0e-16
ductal carcinoma in situ -1.600 4.2e-03

 CSPA Cell Line (3)

Protein-protein Interaction (2)

Gene RIF (13)

PMID Text
26653794 study reports a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral ectopia lentis
25975359 ADAMTSL4 mutations are the main cause for isolated ectopia lentis with an early onset of symptoms and possible severe ocular complications.
24802351 Compound heterozygous c.1783dupT and c. 2594G>A mutations of ADAMTSL4 gene were causative mutations for this family with isolated non-syndromic ectopia lentis
23846871 We have confirmed the gene and protein expression of ADAMTSL4 in human ocular tissue. The pattern of expression may suggest further functions of this gene beyond those suggested by its causative role in isolated ectopia lentis.
23426735 Patients from a family with ectopia lentis et pupillae (ELP) in four generations have autosomal recessive ELP caused by novel mutations in ADAMTSL4.
22871183 This is the first detailed report of a possible genetic determinant of craniosynostosis with ectopia lentis.
22736615 Mutations in ADAMTSL4 appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length.
21989719 Enhanced fibrillin-1 deposition in the presence of ADAMTSL4 and colocalization of ADAMTSL4 with fibrillin-1 in the ECM of cultured fibroblasts suggest a potential role for ADAMTSL4 in the formation or maintenance of the zonule.
21051722 The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population.
20702823 Ectopia lentis et pupillae is associated with a number of malformations primarily in the anterior segment of the eye.
20564469 This study confirms that homozygous mutations in ADAMTSL4 are associated with autosomal-recessive ectopia lentis in British families.
20141359 Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive ectopia lentis.
19200529 Mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and this proteins affectsthe development of the zonular fibers.

AA Sequence

MENWTGRPWLYLLLLLSLPQLCLDQEVLSGHSLQTPTEEGQGPEGVWGPWVQWASCSQPCGVGVQRRSRT      1 - 70
CQLPTVQLHPSLPLPPRPPRHPEALLPRGQGPRPQTSPETLPLYRTQSRGRGGPLRGPASHLGREETQEI     71 - 140
RAARRSRLRDPIKPGMFGYGRVPFALPLHRNRRHPRSPPRSELSLISSRGEEAIPSPTPRAEPFSANGSP    141 - 210
QTELPPTELSVHTPSPQAEPLSPETAQTEVAPRTRPAPLRHHPRAQASGTEPPSPTHSLGEGGFFRASPQ    211 - 280
PRRPSSQGWASPQVAGRRPDPFPSVPRGRGQQGQGPWGTGGTPHGPRLEPDPQHPGAWLPLLSNGPHASS    281 - 350
LWSLFAPSSPIPRCSGESEQLRACSQAPCPPEQPDPRALQCAAFNSQEFMGQLYQWEPFTEVQGSQRCEL    351 - 420
NCRPRGFRFYVRHTEKVQDGTLCQPGAPDICVAGRCLSPGCDGILGSGRRPDGCGVCGGDDSTCRLVSGN    421 - 490
LTDRGGPLGYQKILWIPAGALRLQIAQLRPSSNYLALRGPGGRSIINGNWAVDPPGSYRAGGTVFRYNRP    491 - 560
PREEGKGESLSAEGPTTQPVDVYMIFQEENPGVFYQYVISSPPPILENPTPEPPVPQLQPEILRVEPPLA    561 - 630
PAPRPARTPGTLQRQVRIPQMPAPPHPRTPLGSPAAYWKRVGHSACSASCGKGVWRPIFLCISRESGEEL    631 - 700
DERSCAAGARPPASPEPCHGTPCPPYWEAGEWTSCSRSCGPGTQHRQLQCRQEFGGGGSSVPPERCGHLP    701 - 770
RPNITQSCQLRLCGHWEVGSPWSQCSVRCGRGQRSRQVRCVGNNGDEVSEQECASGPPQPPSREACDMGP    771 - 840
CTTAWFHSDWSSKCSAECGTGIQRRSVVCLGSGAALGPGQGEAGAGTGQSCPTGSRPPDMRACSLGPCER    841 - 910
TWRWYTGPWGECSSECGSGTQRRDIICVSKLGTEFNVTSPSNCSHLPRPPALQPCQGQACQDRWFSTPWS    911 - 980
PCSRSCQGGTQTREVQCLSTNQTLSTRCPPQLRPSRKRPCNSQPCSQRPDDQCKDSSPHCPLVVQARLCV    981 - 1050
YPYYTATCCRSCAHVLERSPQDPS                                                 1051 - 1074
//

Text Mined References (33)

PMID Year Title
26653794 2016 A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
25975359 2015 ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
25416956 2014 A proteome-scale map of the human interactome network.
24802351 2015 Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23846871 2013 Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina.
23585552 2013 Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
23426735 2013 Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.
23088713 2012 Protein interactions of the transcription factor Hoxa1.
22871183 Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.
22736615 2012 A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
21989719 2012 ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.
21051722 2011 A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.
20702823 2010 A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.
20564469 2010 Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
20141359 2010 Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.
19200529 2009 A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.
19139490 2009 A strategy for precise and large scale identification of core fucosylated glycoproteins.
19060904 2009 An empirical framework for binary interactome mapping.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16364318 2006 Cathepsin B and its interacting proteins, bikunin and TSRC1, correlate with TNF-induced apoptosis of ovarian cancer cells OV-90.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12706885 2003 TSRC1, a widely expressed gene containing seven thrombospondin type I repeats.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10842357 2000 The thrombospondin type 1 repeat (TSR) superfamily: diverse proteins with related roles in neuronal development.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.