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ILDR1 Gene

protein-coding   GIFtS: 48
GCID: GC03M121706

Immunoglobulin-Like Domain Containing Receptor 1

(Previous names: deafness, autosomal recessive 42)
(Previous symbol: DFNB42)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Immunoglobulin-Like Domain Containing Receptor 11 2     ILDR1beta2
DFNB421 2 5     Immunoglobulin-Like Domain-Containing Receptor 12
Deafness, Autosomal Recessive 421     Immunoglobulin-Like Domain-Containing Receptor 1 Alpha2
ILDR1alpha2     Immunoglobulin-Like Domain-Containing Receptor 1 Beta2
ILDR1alpha'2     

External Ids:    HGNC: 287411   Entrez Gene: 2866762   Ensembl: ENSG000001451037   OMIM: 6097395   UniProtKB: Q86SU03   

Export aliases for ILDR1 gene to outside databases

Previous GC identifers: GC03M123188 GC03M119079


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ILDR1 Gene:
This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a
multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer
progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for
this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for ILDR1 Gene:
ILDR1 (immunoglobulin-like domain containing receptor 1) is a protein-coding gene. Diseases associated with ILDR1 include deafness, autosomal recessive 42, and deafness, autosomal recessive 76. An important paralog of this gene is ILDR2.

UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0
Function: Putative membrane receptor




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ILDR1 gene promoter:
         ATF-2   FOXL1   GATA-1   CREB   deltaCREB   FOXJ2 (long isoform)   STAT3   FOXJ2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidILDR1 promoter sequence
   Search Chromatin IP Primers for ILDR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ILDR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q13.33   Ensembl cytogenetic band:  3q13.33   HGNC cytogenetic band: 3q21.1

ILDR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ILDR1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M121706:  view genomic region     (about GC identifiers)

Start:
121,706,170 bp from pter      End:
121,741,127 bp from pter
Size:
34,958 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0 (See protein sequence)
Recommended Name: Immunoglobulin-like domain-containing receptor 1 precursor  
Size: 546 amino acids; 62815 Da
Subunit: Homooligomer
Secondary accessions: Q6ZP61 Q7Z578
Alternative splicing: 6 isoforms:  Q86SU0-1   Q86SU0-2   Q86SU0-3   Q86SU0-4   Q86SU0-5   Q86SU0-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ILDR1: NX_Q86SU0

Explore proteomics data for ILDR1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ILDR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186728.1  NP_001186729.1  NP_787120.1  

    ENSEMBL proteins: 
     ENSP00000273691   ENSP00000345667   ENSP00000377251   ENSP00000419414  

    ILDR1 Human Recombinant Protein Products:

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    Novus Biologicals ILDR1 Lysate
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    Cloud-Clone Corp. Proteins for ILDR1

    ILDR1 Antibody Products:

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    Abcam antibodies for ILDR1
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    LSBio Antibodies in human, mouse, rat for ILDR1

    ILDR1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for ILDR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR008664 LISCH7
     IPR013783 Ig-like_fold
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q86SU0

    ProtoNet protein and cluster: Q86SU0

    UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0
    Similarity: Belongs to the immunoglobulin superfamily. LISCH7 family
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    ILDR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ILDR1_HUMAN, Q86SU0
    Function: Putative membrane receptor

    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ildr1):

     behavior/neurological  digestive/alimentary  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 

    ILDR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ildr1tm1(KOMP)Wtsi for ILDR1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ILDR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ILDR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ILDR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ILDR1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ILDR1:
    hsa-mir-335-5p (MIRT017263)

    Block miRNA regulation of human, mouse, rat ILDR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ILDR1 (see all 15):
    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-3126-5p hsa-miR-544b hsa-miR-93 hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidILDR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ILDR1
    Predesigned siRNA for gene silencing in human, mouse, rat ILDR1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): ILDR1 (NM_175924)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ILDR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ILDR1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ILDR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ILDR1_HUMAN, Q86SU0: Cell membrane; Single-pass type I membrane protein
    ILDR1_HUMAN, Q86SU0: Isoform 5: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane5
    golgi apparatus2
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    ILDR1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ILDR1
    Interactions:

        Search GeneGlobe Interaction Network for ILDR1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ILDR1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ILDR1 gene (3 alternative transcripts): 
    NM_001199799.1  NM_001199800.1  NM_175924.3  

    Unigene Cluster for ILDR1:

    Immunoglobulin-like domain containing receptor 1
    Hs.98484  [show with all ESTs]
    Unigene Representative Sequence: NM_001199799
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273691(uc003eeq.3 uc003ees.3 uc003eer.3 uc010hrg.3)
    ENST00000344209 ENST00000393631 ENST00000462014 ENST00000460554
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ILDR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ILDR1 (see all 15):
    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-3126-5p hsa-miR-544b hsa-miR-93 hsa-miR-1207-3p
    SwitchGear 3'UTR luciferase reporter plasmidILDR1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ILDR1
    Predesigned siRNA for gene silencing in human, mouse, rat ILDR1
    Clone
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    OriGene clones in human, mouse for ILDR1 (see all 6)
    OriGene ORF clones in mouse, rat for ILDR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ILDR1 (NM_175924)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ILDR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ILDR1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ILDR1
    OriGene qSTAR qPCR primer pairs in human, mouse for ILDR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ILDR1
      QuantiTect SYBR Green Assays in human, mouse, rat ILDR1
      QuantiFast Probe-based Assays in human, mouse, rat ILDR1

    Additional mRNA sequence: 

    AK129974.1 AY134857.1 AY672837.1 AY672838.1 AY672839.1 BC044240.1 

    3 DOTS entries:

    DT.404444  DT.101978402  DT.99971559 

    Selected AceView cDNA sequences (see all 30):

    AA425730 BM923606 AI734047 AY672838 NM_175924 AY134857 AI821661 BF222489 
    BC044240 AK129974 CK904929 BQ067344 CK904928 AW612174 CB959859 AY672837 
    BM055082 AI766035 AY672839 AA831413 BX397187 BF222221 CB960662 BM055370 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ILDR1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
    SP1:                    -                                                               
    SP2:                    -                                   -                           
    SP3:                    -                             -                                 
    SP4:                                                  -                                 
    SP5:                    -                 -     -                                       


    ECgene alternative splicing isoforms for ILDR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ILDR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTCCAAA
    ILDR1 Expression
    About this image


    ILDR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
    ILDR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ILDR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98484

    UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0
    Tissue specificity: Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and
    liver

        Custom PCR Arrays for ILDR1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ILDR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ILDR1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ildr11 , 5 immunoglobulin-like domain containing receptor 11, 5 83.78(n)1
    82.13(a)1
      16 (25.88 cM)5
    1063471  NM_001285788.11  NP_001272717.11 
     366939785 
    chicken
    (Gallus gallus)
    Aves ILDR11 immunoglobulin-like domain containing receptor 1 63.66(n)
    59.5(a)
      418358  XM_004938220.1  XP_004938277.1 
    lizard
    (Anolis carolinensis)
    Reptilia ILDR16
    immunoglobulin-like domain containing receptor 1
    55(a)
    1 ↔ 1
    3(176283291-176290492)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004860571 immunoglobulin-like domain-containing receptor 1-like 61.94(n)
    60.39(a)
      100486057  XM_002940921.2  XP_002940967.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc642272 hypothetical protein MGC64227 77.13(n)   393364  BC053314.1 


    ENSEMBL Gene Tree for ILDR1 (if available)
    TreeFam Gene Tree for ILDR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ILDR1 gene
    ILDR22  LSR2  

    ILDR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ILDR1 (see all 797)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0653524
    Deafness, autosomal recessive, 42 (DFNB42)4--see VAR_0653522 R Q mis40--------
    rs1383347851,2
    Cuntested1121679877(+) TCCACG/AACCTC 6 /V syn11Minor allele frequency- A:0.00NA 4548
    rs356574141,2
    C--119094307(+) TCTGGT/-TTTTT 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs584206731,2
    C--121672956(+) AAAAA-/A/CTCCCA 3 -- ds50011NA 2
    rs1149222271,2
    C,F--121673070(+) AGCACG/ATAAGG 3 -- ds50011Minor allele frequency- A:0.02NA 120
    rs76345621,2
    C,F,H--121673096(+) ACATAC/TACACA 3 -- ds50019Minor allele frequency- T:0.03NS EA NA 1094
    rs92891851,2
    C,F,A,H--121673154(+) TCTCTA/CCGTCA 3 -- ds500132Minor allele frequency- C:0.32EA NA NS WA CSA 2982
    rs1422511171,2
    --121673166(+) GCACAC/GATGGA 3 -- ds50010--------
    rs1512452441,2
    --121673196(+) GGCTTC/TGAAAA 3 -- ds50010--------
    rs1404705101,2
    --121673258(+) TGGGGA/CCCTCT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for ILDR1 (121706170 - 121741127 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ILDR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv237246CNV Loss16902084
    esv33139CNV Loss17666407

    Human Gene Mutation Database (HGMD): ILDR1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ILDR1
    DNA2.0 Custom Variant and Variant Library Synthesis for ILDR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609739   
    OMIM disorders: 609646  
    UniProtKB/Swiss-Prot: ILDR1_HUMAN, Q86SU0
  • Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646]: A prelingual, non-progressive form of
    non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of
    the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for ILDR1:    
    About MalaCards
    deafness, autosomal recessive 42    deafness, autosomal recessive 76    nonsyndromic deafness    sensorineural hearing loss
    myelodysplastic syndromes    multiple sclerosis    multiple myeloma    myeloma
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for ILDR1:
    Nonsyndromic deafness

    ILDR1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ILDR1
    Human Genome Epidemiology (HuGE) Navigator: ILDR1 (1 document)

    Export disorders for ILDR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ILDR1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ILDR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. (PubMed id 21255762)1, 2, 3 Borck G.... Kubisch C. (Am. J. Hum. Genet. 2011)
    2. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PubMed id 22190364)1, 4 Patsopoulos N.A....de Bakker P.I. (Ann. Neurol. 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. (PubMed id 15641023)1, 3 Aslam M....Leal S.M. (Am. J. Med. Genet. A 2005)
    5. Characterization of a novel immunoglobulin-like domain containing receptor. (PubMed id 15381095)1, 2 Hauge H.... Aasheim H.-C. (Biochem. Biophys. Res. Commun. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. (PubMed id 23239027)1 Higashi T....Furuse M. (J. Cell. Sci. 2013)
    9. A new recurrent chromosomal translocation t(3;11)(q13;q14) in myelodysplastic syndromes associated with overexpression of the ILDR1 gene. (PubMed id 22365942)1 Zagaria A....Albano F. (Leuk. Res. 2012)
    10. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with BehAset's disease. (PubMed id 20622878)4 Remmers E.F....GA1l A. (Nat. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 286676 HGNC: 28741 AceView: ILDR1 Ensembl:ENSG00000145103 euGenes: HUgn286676
    ECgene: ILDR1 H-InvDB: ILDR1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ILDR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ILDR1 gene:
    Search GeneIP for patents involving ILDR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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