Property Summary

NCBI Gene PubMed Count 13
PubMed Score 11.82
PubTator Score 9.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
medulloblastoma, large-cell 1.300 2.7e-04
intraductal papillary-mucinous neoplasm ... 1.600 9.9e-04
breast carcinoma 2.000 2.6e-02
Multiple Sclerosis -2.600 1.4e-05
interstitial cystitis -2.100 3.6e-05
adult high grade glioma 1.300 9.7e-05
lung carcinoma 1.300 5.4e-25
ductal carcinoma in situ 1.800 4.4e-04
invasive ductal carcinoma 1.800 1.3e-03
ulcerative colitis -1.200 1.1e-04
ovarian cancer 1.400 1.4e-09
psoriasis -1.300 4.1e-66

Pathway (1)

Protein-protein Interaction (4)

Gene RIF (8)

PMID Text
26440088 consanguineous deaf families with novelmutations in the ILDR1 gene, were identified.
25668204 Whole-exome sequencing of a Korean multiplex family segregating partial deafness identified a novel homozygous ILDR1 variant (p.P69H) within the Ig-like domain.
24768815 Data indicate a mutation in immunoglobulin-like domain containing receptor 1 (ILDR1) as a causative gene for autosomal-recessive non-syndromic hearing loss (arNSHL) in a consanguineous Saudi family with three affected children.
23239027 The findings show the heterogeneity of the molecular organization of tTJs in terms of the content of LSR, ILDR1 or ILDR2, and suggest that ILDR1-mediated recruitment of tricellulin to TCs is required for hearing.
22365942 The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup.
21255762 Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18976975 Knockdown of immunoglobulin-like domain containing receptor 1 (ILDR1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells

AA Sequence

MAWPKLPAPWLLLCTWLPAGCLSLLVTVQHTERYVTLFASIILKCDYTTSAQLQDVVVTWRFKSFCKDPI      1 - 70
FDYYSASYQAALSLGQDPSNDCNDNQREVRIVAQRRGQNEPVLGVDYRQRKITIQNRADLVINEVMWWDH     71 - 140
GVYYCTIEAPGDTSGDPDKEVKLIVLHWLTVIFIILGALLLLLLIGVCWCQCCPQYCCCYIRCPCCPAHC    141 - 210
CCPEEALARHRYMKQAQALGPQMMGKPLYWGADRSSQVSSYPMHPLLQRDLSLPSSLPQMPMTQTTNQPP    211 - 280
IANGVLEYLEKELRNLNLAQPLPPDLKGRFGHPCSMLSSLGSEVVERRIIHLPPLIRDLSSSRRTSDSLH    281 - 350
QQWLTPIPSRPWDLREGRSHHHYPDFHQELQDRGPKSWALERRELDPSWSGRHRSSRLNGSPIHWSDRDS    351 - 420
LSDVPSSSEARWRPSHPPFRSRCQERPRRPSPRESTQRHGRRRRHRSYSPPLPSGLSSWSSEEDKERQPQ    421 - 490
SWRAHRRGSHSPHWPEEKPPSYRSLDITPGKNSRKKGSVERRSEKDSSHSGRSVVI                  491 - 546
//

Text Mined References (13)

PMID Year Title
26440088 2015 Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.
25668204 2015 Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.
24768815 ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
23239027 2013 Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis.
22365942 2012 A new recurrent chromosomal translocation t(3;11)(q13;q14) in myelodysplastic syndromes associated with overexpression of the ILDR1 gene.
22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
21255762 2011 Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
15641023 2005 A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15381095 2004 Characterization of a novel immunoglobulin-like domain containing receptor.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.