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

Gene ID: 387597, updated on 3-Apr-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
Predicted to act upstream of or within several processes, including homeostasis of number of cells within a tissue; insulin secretion; and response to glucose. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 6.6), brain (RPKM 4.2) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
1q24.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (166908187..166975540, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (166254012..166321373, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. ILDR2 Is a Novel B7-like Protein That Negatively Regulates T Cell Responses. Hecht I, et al. J Immunol, 2018 Mar 15. PMID 29431694, Free PMC Article
  2. ZNF70, a novel ILDR2-interacting protein, contributes to the regulation of HES1 gene expression. Watanabe K, et al. Biochem Biophys Res Commun, 2016 Sep 2. PMID 27353377
  3. ILDR2 stabilization is regulated by its interaction with GRP78. Watanabe K, et al. Sci Rep, 2021 Apr 16. PMID 33863978, Free PMC Article
  4. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Li Q, et al. Hum Genet, 2015 Feb. PMID 25367360, Free PMC Article
  5. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. Cheung CL, et al. Hum Mol Genet, 2009 Feb 15. PMID 19064610

See all (13) citations in PubMed

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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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