Property Summary

NCBI Gene PubMed Count 32
Grant Count 5
R01 Count 5
Funding $305,549.4
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 0.000
atypical teratoid / rhabdoid tumor 3.500 0.000
glioblastoma 2.000 0.000
non-small cell lung cancer -2.434 0.000
lung cancer -3.100 0.000
colon cancer -1.800 0.000
pediatric high grade glioma 1.600 0.000
pilocytic astrocytoma 1.300 0.001
invasive ductal carcinoma -2.100 0.004
lung carcinoma -1.300 0.000
ductal carcinoma in situ -1.600 0.004

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.
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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
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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.
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