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

ILDR2 Gene

protein-coding   GIFtS: 46
GCID: GC01M166887

immunoglobulin-like domain containing receptor 2

(Previous name: chromosome 1 open reading frame 32 )
(Previous symbol: C1orf32)
 Explore 4 diseases affiliated with
ILDR2 via our new
 Human Malady Compendium 
Biological research products
for ILDR2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Immunoglobulin-Like Domain Containing Receptor 21 2
C1orf321 2 3
Chromosome 1 Open Reading Frame 321
RP4-782G3.22
DJ782G3.11
Immunoglobulin-Like Domain-Containing Receptor 22

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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
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:
166,887,996 bp from pter      End:
166,944,719 bp from pter
Size:
56,724 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q71H61

  • ILDR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Uscn 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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ILDR2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR003599 Ig_sub
     IPR008664 LISCH7
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry Q71H61

    ProtoNet protein and cluster: Q71H61

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    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
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    Inhib. RNA
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    2 GenomeRNAi human phenotypes for ILDR2:
     Increased number of cells in m  Synthetic lethal with Ras 

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

    ILDR2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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, 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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) ENST00000525740 ENST00000529387 ENST00000469934
    ENST00000529071 ENST00000526687 ENST00000528703

    miRNA
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    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
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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 cDNA 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:

    BX111478 AI808038 AI671563 AF503509 AI051271 BF477374 AI393513 AI240190 
    NM_199351 BX111413 AI286080 AA969667 AW003346 BE856260 BF933147 BX951799 
    AW661846 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACTACGGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ILDR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    Gut TubeForegutForegut Endoderm CellsEndoderm
    SomiteThoracic Ventrolateral Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    KidneyGlomerulusKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
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    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 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    67(a)
    1 ↔ 1
    3(163280743-163345869)
    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, UniProtKB, 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

    10/791 NCBI SNPs in ILDR2 are shown (see all 791    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1469416951,2
    --166882120(+) TTGTGA/CCCCTC 1 -- ds50010--------
    rs1379008691,2
    --166882129(+) TCTTGA/GAAATG 1 -- ds50010--------
    rs1494912211,2
    --166882243(+) GCTTAC/TTACAA 1 -- ds50010--------
    rs1149683911,2
    --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 (166887996 - 166944719 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ILDR2: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ILDR2 for disorders           About GeneDecksing

    4 diseases for ILDR2:    About MalaCards
    essential hypertension    hypertension    t-cell leukemia    leukemia

    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. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    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 Ehret G.B....Chakravarti A. (2009)
    4. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1 Cheung C.L....Kung A.W. (2009)
    5. 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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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