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

    Gene ID: 387597, updated on 17-Jun-2019

    Summary

    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
    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
    Expression
    Biased expression in testis (RPKM 6.6), brain (RPKM 4.2) and 3 other tissues See more
    Orthologs

    Genomic context

    See ILDR2 in Genome Data Viewer
    Location:
    1q24.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (166908187..166975540, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (166882441..166944576, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pogo transposable element derived with KRAB domain Neighboring gene transcriptional adaptor 1 Neighboring gene deoxyuridine triphosphatase pseudogene 6 Neighboring gene maelstrom spermatogenic transposon silencer Neighboring gene Sharpr-MPRA regulatory region 1052 Neighboring gene RNA, 5S ribosomal pseudogene 65 Neighboring gene uncharacterized LOC105371600 Neighboring gene glycoprotein A33

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Phenotypes

    NHGRI GWAS Catalog

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

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    immunoglobulin-like domain-containing receptor 2

    NCBI Reference Sequences (RefSeq)

    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_199351.3NP_955383.1  immunoglobulin-like domain-containing receptor 2 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
      Related
      ENSP00000271417.2, ENST00000271417.8
      Conserved Domains (1) summary
      pfam05624
      Location:186212
      LSR; Lipolysis stimulated receptor (LSR)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

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

    2. XM_017001256.1XP_016856745.1  immunoglobulin-like domain-containing receptor 2 isoform X5

      Related
      ENSP00000436120.1, ENST00000525740.5
    3. XM_017001254.1XP_016856743.1  immunoglobulin-like domain-containing receptor 2 isoform X3

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

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

    6. XM_006711314.3XP_006711377.1  immunoglobulin-like domain-containing receptor 2 isoform X8

    7. XM_017001257.1XP_016856746.1  immunoglobulin-like domain-containing receptor 2 isoform X6

    8. XM_017001258.1XP_016856747.1  immunoglobulin-like domain-containing receptor 2 isoform X7

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