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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ILDR2 Gene

protein-coding   GIFtS: 47
GCID: GC01M166887

Immunoglobulin-Like Domain Containing Receptor 2

(Previous name: chromosome 1 open reading frame 32)
(Previous symbol: C1orf32)
  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)
About This Section

Aliases
Immunoglobulin-Like Domain Containing Receptor 21 2     RP4-782G3.22
C1orf321 2 3     dJ782G3.12
LISCH-like1     Immunoglobulin-Like Domain-Containing Receptor 22
Chromosome 1 Open Reading Frame 321     

External Ids:    HGNC: 181311   Entrez Gene: 3875972   Ensembl: ENSG000001431957   UniProtKB: Q71H613   

Export aliases for ILDR2 gene to outside databases

Previous GC identifers: GC01M165155 GC01M138135


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ILDR2 Gene: 
ILDR2 (immunoglobulin-like domain containing receptor 2) is a protein-coding gene. Diseases associated with ILDR2 include essential hypertension, and hypertension. An important paralog of this gene is LSR.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ILDR2 gene promoter:
         Pbx1a   FAC1   E2F   E2F-1   CBF-A   CBF-B   CP1A   RSRFC4   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ILDR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ILDR2


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

Entrez Gene cytogenetic band: 1q24.1   Ensembl cytogenetic band:  1q24.1   HGNC cytogenetic band: 1q24.1

ILDR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ILDR2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M166887:  view genomic region     (about GC identifiers)

Start:
166,882,441 bp from pter      End:
166,944,719 bp from pter
Size:
62,279 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ILDR2_HUMAN, Q71H61 (See protein sequence)
Recommended Name: Immunoglobulin-like domain-containing receptor 2  
Size: 639 amino acids; 71200 Da
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Explore the universe of human proteins at neXtProt for ILDR2: NX_Q71H61

Explore proteomics data for ILDR2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q71H61

  • ILDR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ILDR2 Protein Expression
    REFSEQ proteins: NP_955383.1  
    ENSEMBL proteins: 
     ENSP00000271417   ENSP00000432750   ENSP00000436120   ENSP00000431316   ENSP00000437008  
     ENSP00000436882   ENSP00000434273  

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    Cloud-Clone Corp. Proteins for ILDR2 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    ILDR2 for ontologies           About GeneDecksing



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

    Graphical View of Domain Structure for InterPro Entry Q71H61

    ProtoNet protein and cluster: Q71H61

    1 Blocks protein domain: IPB013106 Immunoglobulin V-set

    UniProtKB/Swiss-Prot: ILDR2_HUMAN, Q71H61
    Similarity: Belongs to the immunoglobulin superfamily. LISCH7 family
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    ILDR2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         2 GenomeRNAi human phenotypes for ILDR2:
     Increased number of cells in m  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ildr2):
     cellular  endocrine/exocrine gland  homeostasis/metabolism 

    ILDR2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ILDR2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ILDR2 
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    SwitchGear 3'UTR luciferase reporter plasmidILDR2 3' UTR sequence
    Inhib. RNA
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    OriGene ORF clones in mouse, rat for ILDR2
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ILDR2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ILDR2

    1 Interacting protein for ILDR2 (Q71H612, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SFNP319472, 3MINT-3975853 I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009749response to glucose stimulus IEA--
    GO:0030073insulin secretion IEA--
    GO:0030154cell differentiation IEA--
    GO:0031016pancreas development IEA--
    GO:0048873homeostasis of number of cells within a tissue IEA--

    ILDR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ILDR2

    Search CenterWatch for drugs/clinical trials and news about ILDR2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ILDR2 gene: 
    NM_199351.2  

    Unigene Cluster for ILDR2:

    Immunoglobulin-like domain containing receptor 2
    Hs.444835  [show with all ESTs]
    Unigene Representative Sequence: NM_199351
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000271417(uc001gdx.2) ENST00000528703 ENST00000525740 ENST00000529387
    ENST00000469934 ENST00000529071 ENST00000526687
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ILDR2
    8/104 QIAGEN miScript miRNA Assays for microRNAs that regulate ILDR2 (see all 104):
    hsa-miR-3607-3p hsa-miR-607 hsa-miR-188-5p hsa-miR-15a hsa-miR-128 hsa-miR-938 hsa-miR-134 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidILDR2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ILDR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ILDR2
    Clone
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    OriGene ORF clones in mouse, rat for ILDR2
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    GenScript: all cDNA clones in your preferred vector: ILDR2 (NM_199351)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ILDR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ILDR2
    Sirion Biotech Customized lentivirus for stable overexpression of ILDR2 
                         Customized lentivirus expression plasmids for stable overexpression of ILDR2 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ILDR2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ILDR2

    Additional mRNA sequence: 

    AF503509.1 DQ980600.1 

    9 DOTS entries:

    DT.406242  DT.102823326  DT.306941  DT.406241  DT.40213524  DT.40277944  DT.306940  DT.95210422 
    DT.95276242 

    19 AceView cDNA sequences:

    NM_199351 AI393513 AI671563 AF503509 BX111478 BX111413 BF477374 AI286080 
    AI808038 AI240190 AI051271 AA969667 BE856260 AW003346 BF933147 AW661846 
    BX951799 H19011 AI939295 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ILDR2 expression in normal human tissues (normalized intensities)      ILDR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTACGGGG
    ILDR2 Expression
    About this image


    ILDR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Blood Brain Barrier (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
     
     Skeletal Muscle (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip

    See ILDR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ILDR2

    SOURCE GeneReport for Unigene cluster: Hs.444835
        SABiosciences Custom PCR Arrays for ILDR2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ILDR2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ILDR2

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ILDR2 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ildr21 , 5 immunoglobulin-like domain containing receptor 21, 5 89.9(n)1
    91.21(a)1
      1 (73.61 cM)5
    1000397951  NM_001164528.11  NP_001158000.11 
     1662541395 
    chicken
    (Gallus gallus)
    Aves ILDR21 immunoglobulin-like domain containing receptor 2 74.03(n)
    74.51(a)
      418447  XM_416658.3  XP_416658.3 
    lizard
    (Anolis carolinensis)
    Reptilia ILDR26
    immunoglobulin-like domain containing receptor 2
    66(a)
    1 ↔ 1
    3(163279612-163354666)
    zebrafish
    (Danio rerio)
    Actinopterygii ildr21 immunoglobulin-like domain containing receptor 2 55.08(n)
    47.54(a)
      564738  NM_001030192.1  NP_001025363.1 


    ENSEMBL Gene Tree for ILDR2 (if available)
    TreeFam Gene Tree for ILDR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ILDR2 gene
    LSR2  ILDR12  
    1 SIMAP similar gene for ILDR2 using alignment to 7 protein entries:     ILDR2_HUMAN (see all proteins):
    LSR

    ILDR2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/974 SNPs in ILDR2 are shown (see all 974)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1469416951,2
    C--166882120(+) TTGTGA/CCCCTC 1 -- ds50010--------
    rs1379008691,2
    --166882129(+) TCTTGA/GAAATG 1 -- ds50010--------
    rs1494912211,2
    --166882243(+) GCTTAC/TTACAA 1 -- ds50010--------
    rs1149683911,2
    C,F--166882523(+) TCATGG/AACAAC 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs1928478181,2
    --166882668(+) TCTTAG/TGCAGT 1 -- ut310--------
    rs727078031,2
    C--166882730(+) AAGAGA/GAGCTA 1 -- ut310--------
    rs10534071,2
    C,F,A,H--166882737(-) ACACAA/GATAGC 1 -- ut3122Minor allele frequency- G:0.47EA MN NS NA CSA WA 4128
    rs1481440991,2
    --166882886(+) TCTTAC/GTTCTA 1 -- ut310--------
    rs767932461,2
    C--166882892(+) TTCTAA/CCTAAA 1 -- ut310--------
    rs64270451,2
    C,H--166883052(+) CACAGC/GTGATG 1 -- ut3112Minor allele frequency- G:0.04NA WA CSA 141

    HapMap Linkage Disequilibrium report for ILDR2 (166882441 - 166944719 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ILDR2: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ILDR2
    DNA2.0 Custom Variant and Variant Library Synthesis for ILDR2

    (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.)
    About This Section
    4 diseases for ILDR2:    About MalaCards
    essential hypertension    hypertension    t-cell leukemia    leukemia


    ILDR2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ILDR2
    Human Genome Epidemiology (HuGE) Navigator: ILDR2 (3 documents)

    Export disorders for ILDR2 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)
    About This Section

    PubMed articles for ILDR2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ILDR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (2009)
    3. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (2009)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 387597 HGNC: 18131 AceView: C1orf32 Ensembl:ENSG00000143195 euGenes: HUgn387597
    ECgene: ILDR2 H-InvDB: ILDR2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ILDR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ILDR2 gene:
    Search GeneIP for patents involving ILDR2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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