Property Summary

NCBI Gene PubMed Count 7
PubMed Score 33.89
PubTator Score 53.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

 GWAS Trait (1)

Pathway (1)

Gene RIF (1)

PMID Text
24372406 Based on IGSF3 mutation in a family with congenital nasolacrimal duct obstruction we conclude that the disruption of IGSF3 is the very likely cause of autosomal recessive nasolacrimal duct obstruction.

AA Sequence

MKCFFPVLSCLAVLGVVSAQRQVTVQEGPLYRTEGSHITIWCNVSGYQGPSEQNFQWSIYLPSSPEREVQ      1 - 70
IVSTMDSSFPYAIYTQRVRGGKIFIERVQGNSTLLHITDLQARDAGEYECHTPSTDKQYFGSYSAKMNLV     71 - 140
VIPDSLQTTAMPQTLHRVEQDPLELTCEVASETIQHSHLSVAWLRQKVGEKPVEVISLSRDFMLHSSSEY    141 - 210
AQRQSLGEVRLDKLGRTTFRLTIFHLQPSDQGEFYCEAAEWIQDPDGSWYAMTRKRSEGAVVNVQPTDKE    211 - 280
FTVRLETEKRLHTVGEPVEFRCILEAQNVPDRYFAVSWAFNSSLIATMGPNAVPVLNSEFAHREARGQLK    281 - 350
VAKESDSVFVLKIYHLRQEDSGKYNCRVTEREKTVTGEFIDKESKRPKNIPIIVLPLKSSISVEVASNAS    351 - 420
VILEGEDLRFSCSVRTAGRPQGRFSVIWQLVDRQNRRSNIMWLDRDGTVQPGSSYWERSSFGGVQMEQVQ    421 - 490
PNSFSLGIFNSRKEDEGQYECHVTEWVRAVDGEWQIVGERRASTPISITALEMGFAVTAISRTPGVTYSD    491 - 560
SFDLQCIIKPHYPAWVPVSVTWRFQPVGTVEFHDLVTFTRDGGVQWGDRSSSFRTRTAIEKAESSNNVRL    561 - 630
SISRASDTEAGKYQCVAELWRKNYNNTWTRLAERTSNLLEIRVLQPVTKLQVSKSKRTLTLVENKPIQLN    631 - 700
CSVKSQTSQNSHFAVLWYVHKPSDADGKLILKTTHNSAFEYGTYAEEEGLRARLQFERHVSGGLFSLTVQ    701 - 770
RAEVSDSGSYYCHVEEWLLSPNYAWYKLAEEVSGRTEVTVKQPDSRLRLSQAQGNLSVLETRQVQLECVV    771 - 840
LNRTSITSQLMVEWFVWKPNHPERETVARLSRDATFHYGEQAAKNNLKGRLHLESPSPGVYRLFIQNVAV    841 - 910
QDSGTYSCHVEEWLPSPSGMWYKRAEDTAGQTALTVMRPDASLQVDTVVPNATVSEKAAFQLDCSIVSRS    911 - 980
SQDSRFAVAWYSLRTKAGGKRSSPGLEEQEEEREEEEEEDDDDDDDPTERTALLSVGPDAVFGPEGSPWE    981 - 1050
GRLRFQRLSPVLYRLTVLQASPQDTGNYSCHVEEWLPSPQKEWYRLTEEESAPIGIRVLDTSPTLQSIIC   1051 - 1120
SNDALFYFVFFYPFPIFGILIITILLVRFKSRNSSKNSDGKNGVPLLWIKEPHLNYSPTCLEPPVLSIHP   1121 - 1190
GAID                                                                     1191 - 1194
//

Text Mined References (11)

PMID Year Title
24372406 2014 Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.
23829686 2013 Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
19581412 2009 Quantitative proteomics identifies a Dab2/integrin module regulating cell migration.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14656960 2003 Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11504738 2001 EWI-2 is a major CD9 and CD81 partner and member of a novel Ig protein subfamily.
9790749 1998 Molecular cloning of a human cDNA IGSF3 encoding an immunoglobulin-like membrane protein: expression and mapping to chromosome band 1p13.
9455484 1997 Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.