U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 11120, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See BTN2A1 in Genome Data Viewer
Location:
6p22.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26457955..26476622)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26326320..26345007)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. BTN3A Targeting Vγ9Vδ2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells. Gay L, et al. Front Immunol, 2022. PMID 35833118, Free PMC Article
  2. BTN2A1, an immune checkpoint targeting Vγ9Vδ2 T cell cytotoxicity against malignant cells. Cano CE, et al. Cell Rep, 2021 Jul 13. PMID 34260935
  3. Soluble BTN2A1 Is a Potential Prognosis Biomarker in Pre-Treated Advanced Renal Cell Carcinoma. Billon E, et al. Front Immunol, 2021. PMID 33959132, Free PMC Article
  4. Association of a polymorphism of BTN2A1 with dyslipidemia in community-dwelling individuals. Horibe H, et al. Mol Med Rep, 2014 Mar. PMID 24452779
  5. 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

See all (33) 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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ36567

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
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

Go to the top of the page Help
Preferred Names
butyrophilin subfamily 2 member A1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous