Property Summary

NCBI Gene PubMed Count 7
Grant Count 5
R01 Count 5
Funding $816,492
PubMed Score 33.89
PubTator Score 53.59

Knowledge Summary

Patent

No data available

Expression

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.
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