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    BTN2A1 butyrophilin subfamily 2 member A1 [ Homo sapiens (human) ]

    Gene ID: 11120, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BTN2A1provided by HGNC
    Official Full Name
    butyrophilin subfamily 2 member A1provided by HGNC
    Primary source
    HGNC:HGNC:1136
    See related
    Ensembl:ENSG00000112763 MIM:613590; AllianceGenome:HGNC:1136
    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
    BTF1; BT2.1; BTN2.1; DJ3E1.1; BK14H9.1
    Summary
    This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in spleen (RPKM 14.7), appendix (RPKM 11.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See BTN2A1 in Genome Data Viewer
    Location:
    6p22.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26457955..26476622)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26326320..26345007)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26458183..26476850)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:26420693-26421656 Neighboring gene butyrophilin subfamily 2 member A3, pseudogene Neighboring gene butyrophilin subfamily 3 member A3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24243 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26465895-26467094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24244 Neighboring gene uncharacterized LOC285819 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26477169-26478368 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1165 Neighboring gene butyrophilin subfamily 1 member A1 pseudogene 1 Neighboring gene uncharacterized LOC107986583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24245 Neighboring gene butyrophilin subfamily 1 member A1

    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. Association of a genetic variant of BTN2A1 with metabolic syndrome in East Asian populations. Oguri M, et al. J Med Genet, 2011 Nov. PMID 21784758
    2. Association of a polymorphism of BTN2A1 with dyslipidemia in community-dwelling individuals. Horibe H, et al. Mol Med Rep, 2014 Mar. PMID 24452779
    3. BTN3A Targeting Vγ9Vδ2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells. Gay L, et al. Front Immunol, 2022. PMID 35833118, Free PMC Article
    4. Association of a polymorphism of BTN2A1 with type 2 diabetes mellitus in Japanese individuals. Hiramatsu M, et al. Diabet Med, 2011 Nov. PMID 21672009
    5. Association of a genetic variant of BTN2A1 with chronic kidney disease in Japanese individuals. Yoshida T, et al. Nephrology (Carlton), 2011 Sep. PMID 21557786

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vgamma9Vdelta2 T cells.
      Title: Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vγ9Vδ2 T cells.
    2. Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1.
      Title: Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1.
    3. BTN3A Targeting Vgamma9Vdelta2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells.
      Title: BTN3A Targeting Vγ9Vδ2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells.
    4. BTN2A1, an immune checkpoint targeting Vgamma9Vdelta2 T cell cytotoxicity against malignant cells.
      Title: BTN2A1, an immune checkpoint targeting Vγ9Vδ2 T cell cytotoxicity against malignant cells.
    5. The intracellular domain of BTN2A1 binds to the intracellular domain of BTN3A1 only in the presence of phosphoantigen.
      Title: Ligand-induced interactions between butyrophilin 2A1 and 3A1 internal domains in the HMBPP receptor complex.
    6. Soluble BTN2A1 Is a Potential Prognosis Biomarker in Pre-Treated Advanced Renal Cell Carcinoma.
      Title: Soluble BTN2A1 Is a Potential Prognosis Biomarker in Pre-Treated Advanced Renal Cell Carcinoma.
    7. A comparison of the allele frequencies or genotype distributions by the chi2 test revealed that rs6929846 of BTN2A1 was significantly associated with dyslipidemia.
      Title: Association of a polymorphism of BTN2A1 with dyslipidemia in community-dwelling individuals.
    8. BTN2A1 may be a susceptibility gene for myocardial infarction in Japanese individuals.
      Title: Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.
    9. Genetic variants of APOA5 and BTN2A1 may synergistically affect the prevalence of dyslipidemia in East Asian populations and of metabolic syndrome in Japanese individuals.
      Title: Synergistic effects of genetic variants of APOA5 and BTN2A1 on dyslipidemia or metabolic syndrome.
    10. BTN2A1 may be a susceptibility gene for Type 2 diabetes in Japanese individuals
      Title: Association of a polymorphism of BTN2A1 with type 2 diabetes mellitus in Japanese individuals.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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)

    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

    • FLJ36567

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    butyrophilin subfamily 2 member A1

    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_001197233.3 → NP_001184162.1  butyrophilin subfamily 2 member A1 isoform 3

      See identical proteins and their annotated locations for NP_001184162.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK297098, BC016661, DC348937, HY157783
      Consensus CDS
      CCDS56405.1
      UniProtKB/Swiss-Prot
      Q7KYR7
      Related
      ENSP00000443909.1, ENST00000541522.5
      Conserved Domains (2) summary
      cd05713
      Location:1 → 82
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      cd15819
      Location:266 → 439
      SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

    2. NM_001197234.3 → NP_001184163.1  butyrophilin subfamily 2 member A1 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 3'-terminal exon, compared to variant 1. The encoded isoform (4) is shorter and has a unique C-terminus, compared to isoform 1.
      Source sequence(s)
      AB209777, AL121936, DC348937, HY157783
      Consensus CDS
      CCDS56404.1
      UniProtKB/Swiss-Prot
      Q7KYR7
      Related
      ENSP00000419043.1, ENST00000469185.5
      Conserved Domains (2) summary
      cd05713
      Location:44 → 143
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:38 → 142
      IG_like; Immunoglobulin like

    3. NM_007049.5 → NP_008980.1  butyrophilin subfamily 2 member A1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_008980.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      DC348937, HY157783, U90543
      Consensus CDS
      CCDS4613.1
      UniProtKB/Swiss-Prot
      B4DLP9, E9PGR4, O00475, P78408, Q59EN4, Q7KYQ7, Q7KYR7, Q7Z386, Q96AV7, Q9NU62
      Related
      ENSP00000312158.5, ENST00000312541.10
      Conserved Domains (3) summary
      cd05713
      Location:44 → 143
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:38 → 142
      IG_like; Immunoglobulin like
      cd15819
      Location:327 → 500
      SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)

    4. NM_078476.4 → NP_510961.1  butyrophilin subfamily 2 member A1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_510961.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) This variant (2) uses an alternate splice site on the 3'-most exon, compared to variant 1. The encoded isoform (2) is shorter and has a unique C-terminus compared to isoform 1.
      Source sequence(s)
      BC016661, DC348937, HY157783
      Consensus CDS
      CCDS47390.1
      UniProtKB/Swiss-Prot
      Q7KYR7
      Related
      ENSP00000416945.1, ENST00000429381.5
      Conserved Domains (2) summary
      cd05713
      Location:44 → 143
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      cl25602
      Location:251 → 330
      DUF3552; Domain of unknown function (DUF3552)

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      26457955..26476622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791780.1 Reference GRCh38.p14 PATCHES

      Range
      4135..22802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      26326320..26345007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7KYR7.3 GenPept UniProtKB/Swiss-Prot:Q7KYR7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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