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    LAIR2 leukocyte associated immunoglobulin like receptor 2 [ Homo sapiens (human) ]

    Gene ID: 3904, updated on 11-Apr-2024

    Summary

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    Official Symbol
    LAIR2provided by HGNC
    Official Full Name
    leukocyte associated immunoglobulin like receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:6478
    See related
    Ensembl:ENSG00000167618 MIM:602993; AllianceGenome:HGNC:6478
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CD306
    Summary
    The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2013]
    Expression
    Biased expression in placenta (RPKM 4.7), lymph node (RPKM 0.9) and 3 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LAIR2 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54502831..54510687)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57596177..57604033)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55014047..55021897)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leukocyte receptor cluster member 8 Neighboring gene CDC42 effector protein 5 Neighboring gene leukocyte receptor cluster member 9 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_51709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55018677-55019177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55020667-55021482 Neighboring gene uncharacterized LOC105372460 Neighboring gene MPRA-validated peak3555 silencer Neighboring gene killer cell immunoglobulin like receptor, three Ig domains X1 (pseudogene)

    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. Human-specific LAIR2 contributes to the high invasiveness of human extravillous trophoblast cells. Liu J, et al. Reprod Biol, 2019 Sep. PMID 31548102
    2. Inhibition of the classical and lectin pathway of the complement system by recombinant LAIR-2. Olde Nordkamp MJ, et al. J Innate Immun, 2014. PMID 24192271, Free PMC Article
    3. LAIR2-expressing extravillous trophoblasts associate with maternal spiral arterioles undergoing physiologic conversion. Founds SA, et al. Placenta, 2013 Mar. PMID 23332415
    4. Efficient inhibition of collagen-induced platelet activation and adhesion by LAIR-2, a soluble Ig-like receptor family member. Lenting PJ, et al. PLoS One, 2010 Aug 13. PMID 20730098, Free PMC Article
    5. Association of LncRNA-PAX8-AS1 and LAIR-2 polymorphisms along with their expression with clinical and subclinical hypothyroidism. Elsayed OM, et al. Sci Rep, 2023 Jan 2. PMID 36593237, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dissecting T-cell heterogeneity in esophageal squamous cell carcinoma reveals the potential role of LAIR2 in antitumor immunity.
      Title: Dissecting T-cell heterogeneity in esophageal squamous cell carcinoma reveals the potential role of LAIR2 in antitumor immunity.
    2. Association of LncRNA-PAX8-AS1 and LAIR-2 polymorphisms along with their expression with clinical and subclinical hypothyroidism.
      Title: Association of LncRNA-PAX8-AS1 and LAIR-2 polymorphisms along with their expression with clinical and subclinical hypothyroidism.
    3. PNOC Expressed by B Cells in Cholangiocarcinoma Was Survival Related and LAIR2 Could Be a T Cell Exhaustion Biomarker in Tumor Microenvironment: Characterization of Immune Microenvironment Combining Single-Cell and Bulk Sequencing Technology.
      Title: PNOC Expressed by B Cells in Cholangiocarcinoma Was Survival Related and LAIR2 Could Be a T Cell Exhaustion Biomarker in Tumor Microenvironment: Characterization of Immune Microenvironment Combining Single-Cell and Bulk Sequencing Technology.
    4. These data suggest that species-specific genes are pivotal to the evolution of a more aggressive human placenta to match the physiological demands of human development.
      Title: Human-specific LAIR2 contributes to the high invasiveness of human extravillous trophoblast cells.
    5. genetic polymorphism is associated with pemphigus foliaceus
      Title: Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation.
    6. We suggest that LAIR1 and LAIR2 genetic variants are associated with regulation of gene expression and variable pemphigus foliaceus susceptibility, and show indirect association of LAIR2 differential mRNA expression with pemphigus foliaceus pathogenesis.
      Title: Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus.
    7. recombinant LAIR-2-Fc inhibits complement-mediated lysis of cells sensitized with anti-HLA antibodies
      Title: Inhibition of the classical and lectin pathway of the complement system by recombinant LAIR-2.
    8. the presence of high LAIR-2 levels in 74/80 sera from patients with autoimmune thyroid diseases
      Title: Serum LAIR-2 is increased in autoimmune thyroid diseases.
    9. LAIR2-expressing extravillous trophoblasts associate with maternal spiral arterioles undergoing physiologic conversion
      Title: LAIR2-expressing extravillous trophoblasts associate with maternal spiral arterioles undergoing physiologic conversion.
    10. Two markers in two different genes (CNOT3 and LAIR2) showed significant association with ankylosing spondylitis.
      Title: A high density SNP genotyping approach within the 19q13 chromosome region identifies an association of a CNOT3 polymorphism with ankylosing spondylitis.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC71634

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leukocyte-associated immunoglobulin-like receptor 2
    Names
    LAIR-2
    leukocyte-associated Ig-like receptor-2

    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_002288.6 → NP_002279.2  leukocyte-associated immunoglobulin-like receptor 2 isoform a precursor

      See identical proteins and their annotated locations for NP_002279.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC245036, AI262718, BC069366, BX106365
      Consensus CDS
      CCDS12897.1
      UniProtKB/Swiss-Prot
      Q6ISS4, Q6PEZ4
      Related
      ENSP00000301202.2, ENST00000301202.7
      Conserved Domains (1) summary
      cl11960
      Location:27 → 120
      Ig; Immunoglobulin domain

    2. NM_021270.5 → NP_067154.1  leukocyte-associated immunoglobulin-like receptor 2 isoform b precursor

      See identical proteins and their annotated locations for NP_067154.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in an isoform (b) which is shorter compared to isoform a.
      Source sequence(s)
      AC245036, AF013250, BX106365
      Consensus CDS
      CCDS12898.1
      UniProtKB/TrEMBL
      A0A0G2JN10
      Related
      ENSP00000301203.2, ENST00000351841.2
      Conserved Domains (2) summary
      smart00410
      Location:35 → 101
      IG_like; Immunoglobulin like
      cl11960
      Location:27 → 120
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54502831..54510687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526961.3 → XP_011525263.1  leukocyte-associated immunoglobulin-like receptor 2 isoform X1

      See identical proteins and their annotated locations for XP_011525263.1

      Conserved Domains (2) summary
      smart00410
      Location:23 → 89
      IG_like; Immunoglobulin like
      cl11960
      Location:15 → 108
      Ig; Immunoglobulin domain

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      409036..416888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329681.1 → XP_054185656.1  leukocyte-associated immunoglobulin-like receptor 2 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      407546..415405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331512.1 → XP_054187487.1  leukocyte-associated immunoglobulin-like receptor 2 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      485161..493011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333653.1 → XP_054189628.1  leukocyte-associated immunoglobulin-like receptor 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57596177..57604033
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320988.1 → XP_054176963.1  leukocyte-associated immunoglobulin-like receptor 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ISS4.1 GenPept UniProtKB/Swiss-Prot:Q6ISS4

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