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    BTNL2 butyrophilin like 2 [ Homo sapiens (human) ]

    Gene ID: 56244, updated on 8-Jul-2021

    Summary

    Official Symbol
    BTNL2provided by HGNC
    Official Full Name
    butyrophilin like 2provided by HGNC
    Primary source
    HGNC:HGNC:1142
    See related
    Ensembl:ENSG00000204290 MIM:606000
    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
    SS2; BTN7; BTL-II; HSBLMHC1
    Summary
    This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See BTNL2 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32393339..32408879, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32361116..32374907, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TSBP1 and BTNL2 antisense RNA 1 Neighboring gene testis expressed basic protein 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 2 Neighboring gene RNA, U6 small nuclear 603, pseudogene Neighboring gene HLA complex group 23 Neighboring gene major histocompatibility complex, class II, DR alpha Neighboring gene major histocompatibility complex, class II, DR beta 9 (pseudogene)

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies polymorphisms in the HLA-DR region associated with non-response to hepatitis B vaccination in Chinese Han populations.
    GeneReviews: Not available
    A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
    GeneReviews: Not available
    A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
    GeneReviews: Not available
    A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region.
    GeneReviews: Not available
    Common genetic variation and the control of HIV-1 in humans.
    GeneReviews: Not available
    Frontotemporal dementia and its subtypes: a genome-wide association study.
    GeneReviews: Not available
    Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.
    GeneReviews: Not available
    Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
    GeneReviews: Not available
    Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.
    GeneReviews: Not available
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    GeneReviews: Not available
    Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
    GeneReviews: Not available
    Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
    GeneReviews: Not available
    Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
    GeneReviews: Not available
    Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.
    GeneReviews: Not available
    Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.
    GeneReviews: Not available
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    GeneReviews: Not available
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    GeneReviews: Not available
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    GeneReviews: Not available
    New sequence variants in HLA class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study.
    GeneReviews: Not available
    Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
    GeneReviews: Not available
    Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles.
    GeneReviews: Not available
    Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
    GeneReviews: Not available
    Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
    GeneReviews: Not available
    Sarcoidosis 2
    MedGen: C2676468 OMIM: 612387 GeneReviews: Not available
    Compare labs
    Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
    GeneReviews: Not available
    Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
    GeneReviews: Not available
    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    GeneReviews: Not available

    Pathways from PubChem

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    butyrophilin-like protein 2
    Names
    butyrophilin-like 2 (MHC class II associated)
    truncated BTNL2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_054759.1 RefSeqGene

      Range
      6750..20541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304561.2NP_001291490.1  butyrophilin-like protein 2

      Status: REVIEWED

      Source sequence(s)
      AL662796
      Consensus CDS
      CCDS78126.1
      UniProtKB/Swiss-Prot
      Q9UIR0
      UniProtKB/TrEMBL
      A0PJV4, F8WBA1
      Related
      ENSP00000364132.1, ENST00000374993.4
      Conserved Domains (3) summary
      cd05713
      Location:260358
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:252358
      IG_like; Immunoglobulin like
      cl11960
      Location:148229
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      32393339..32408879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011057.1XP_016866546.1  butyrophilin-like protein 2 isoform X1

      UniProtKB/TrEMBL
      F8WBA1
      Related
      ENSP00000390613.3, ENST00000454136.7
      Conserved Domains (3) summary
      cd05713
      Location:260358
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:252358
      IG_like; Immunoglobulin like
      cl11960
      Location:148229
      Ig; Immunoglobulin domain

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      3725570..3739410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      3831431..3845259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

      Range
      3634430..3648259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

      Range
      3698332..3712198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

      Range
      3735089..3748936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

      Range
      3616378..3630227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

      Range
      3709261..3723108 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_8

    Genomic

    1. NT_187692.1 Reference GRCh38.p13 ALT_REF_LOCI_8

      Range
      46775..60642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_019602.1: Suppressed sequence

      Description
      NM_019602.1: This RefSeq was permanently suppressed because the transcript appears to be partial at the 3' end and the protein C-terminus is incomplete.
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