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    ILDR2 immunoglobulin like domain containing receptor 2 [ Homo sapiens (human) ]

    Gene ID: 387597, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ILDR2provided by HGNC
    Official Full Name
    immunoglobulin like domain containing receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:18131
    See related
    Ensembl:ENSG00000143195 MIM:618081; AllianceGenome:HGNC:18131
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1orf32; dJ782G3.1
    Summary
    Involved in negative regulation of T cell activation. Predicted to be located in tight junction. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 6.6), brain (RPKM 4.2) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ILDR2 in Genome Data Viewer
    Location:
    1q24.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (166908187..166975540, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (166254012..166321373, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (166877424..166944777, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transcriptional adaptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:166852951-166853452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:166853453-166853952 Neighboring gene deoxyuridine triphosphatase pseudogene 6 Neighboring gene uncharacterized LOC124904450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:166871233-166871733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2028 Neighboring gene uncharacterized LOC124904449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1515 Neighboring gene Sharpr-MPRA regulatory region 1052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:166958090-166959289 Neighboring gene maelstrom spermatogenic transposon silencer Neighboring gene RNA, 5S ribosomal pseudogene 65 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We demonstrated that ZNF70 interacts with ZFP64 and activates HES1 transcription by binding to the HES1 promoter. In addition, HES1 gene expression is increased in ILDR2-knockdown HepG2 cells, in which ZNF70 is translocated from the cytoplasm to the nucleus, suggesting that ZNF70 migration to the nucleus after dissociating from the ILDR2-ZNF70 complex activates HES1 transcription. These results support a novel link betwee
      Title: ZNF70, a novel ILDR2-interacting protein, contributes to the regulation of HES1 gene expression.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in insulin secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of T cell activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pancreas development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of RNA splicing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in tight junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    immunoglobulin-like domain-containing receptor 2
    Names
    angulin-3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001410891.1 → NP_001397820.1  immunoglobulin-like domain-containing receptor 2 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL009182
      Consensus CDS
      CCDS91097.1
      UniProtKB/TrEMBL
      E9PQC8
      Related
      ENSP00000436882.1, ENST00000529071.5

    2. NM_001410892.1 → NP_001397821.1  immunoglobulin-like domain-containing receptor 2 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL009182
      Consensus CDS
      CCDS91098.1
      UniProtKB/TrEMBL
      E9PNU3
      Related
      ENSP00000432750.1, ENST00000528703.5

    3. NM_199351.3 → NP_955383.1  immunoglobulin-like domain-containing receptor 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_955383.1

      Status: VALIDATED

      Source sequence(s)
      AF503509, AL009182
      Consensus CDS
      CCDS1256.1
      UniProtKB/Swiss-Prot
      Q71H61
      UniProtKB/TrEMBL
      E9PRA4
      Related
      ENSP00000271417.2, ENST00000271417.8
      Conserved Domains (2) summary
      pfam05624
      Location:186 → 212
      LSR; Lipolysis stimulated receptor (LSR)
      cl11960
      Location:36 → 166
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      166908187..166975540 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419950.1 → XP_047275906.1  immunoglobulin-like domain-containing receptor 2 isoform X7

      UniProtKB/TrEMBL
      E9PR23
      Related
      ENSP00000436120.1, ENST00000525740.5

    2. XM_047419940.1 → XP_047275896.1  immunoglobulin-like domain-containing receptor 2 isoform X5

    3. XM_017001253.2 → XP_016856742.1  immunoglobulin-like domain-containing receptor 2 isoform X2

      UniProtKB/TrEMBL
      E9PRA4

    4. XM_017001256.2 → XP_016856745.1  immunoglobulin-like domain-containing receptor 2 isoform X6

      UniProtKB/TrEMBL
      E9PRA4

    5. XM_017001254.2 → XP_016856743.1  immunoglobulin-like domain-containing receptor 2 isoform X3

      UniProtKB/TrEMBL
      E9PRA4

    6. XM_017001255.2 → XP_016856744.1  immunoglobulin-like domain-containing receptor 2 isoform X4

      UniProtKB/TrEMBL
      E9PRA4

    7. XM_017001252.2 → XP_016856741.1  immunoglobulin-like domain-containing receptor 2 isoform X1

    8. XM_017001257.2 → XP_016856746.1  immunoglobulin-like domain-containing receptor 2 isoform X8

      UniProtKB/TrEMBL
      E9PPL0

    9. XM_017001258.2 → XP_016856747.1  immunoglobulin-like domain-containing receptor 2 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      166254012..166321373 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336493.1 → XP_054192468.1  immunoglobulin-like domain-containing receptor 2 isoform X7

      UniProtKB/TrEMBL
      E9PR23

    2. XM_054336491.1 → XP_054192466.1  immunoglobulin-like domain-containing receptor 2 isoform X5

    3. XM_054336488.1 → XP_054192463.1  immunoglobulin-like domain-containing receptor 2 isoform X2

    4. XM_054336492.1 → XP_054192467.1  immunoglobulin-like domain-containing receptor 2 isoform X6

    5. XM_054336489.1 → XP_054192464.1  immunoglobulin-like domain-containing receptor 2 isoform X3

    6. XM_054336490.1 → XP_054192465.1  immunoglobulin-like domain-containing receptor 2 isoform X4

    7. XM_054336487.1 → XP_054192462.1  immunoglobulin-like domain-containing receptor 2 isoform X1

    8. XM_054336494.1 → XP_054192469.1  immunoglobulin-like domain-containing receptor 2 isoform X8

    9. XM_054336495.1 → XP_054192470.1  immunoglobulin-like domain-containing receptor 2 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q71H61.1 GenPept UniProtKB/Swiss-Prot:Q71H61

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