Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BTN2A1 Gene

Aliases for BTN2A1 Gene

  • Butyrophilin Subfamily 2 Member A1 2 3 5
  • BT2.1 3 4
  • BTF1 3 4
  • Butyrophilin, Subfamily 2, Member A1 2
  • BK14H9.1 3
  • DJ3E1.1 3
  • BTN2.1 3

External Ids for BTN2A1 Gene

Previous GeneCards Identifiers for BTN2A1 Gene

  • GC06P026515
  • GC06P026566
  • GC06P026458
  • GC06P026400

Summaries for BTN2A1 Gene

Entrez Gene Summary for BTN2A1 Gene

  • 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]

GeneCards Summary for BTN2A1 Gene

BTN2A1 (Butyrophilin Subfamily 2 Member A1) is a Protein Coding gene. Among its related pathways are Innate Immune System and Butyrophilin (BTN) family interactions. An important paralog of this gene is BTN2A2.

Additional gene information for BTN2A1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTN2A1 Gene

Genomics for BTN2A1 Gene

GeneHancer (GH) Regulatory Elements for BTN2A1 Gene

Promoters and enhancers for BTN2A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I026456 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 577.3 +0.2 189 2.4 HDGF PKNOX1 ATF1 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 BTN2A1 BTN3A1 BTN2A3P HMGN4 PIR45294
GH06I026019 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 59.8 -430.3 -430318 16.2 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 HIST1H3A HIST1H3B HIST1H4B HIST1H2AB HIST1H4A ABT1 HMGN4 BTN2A1 BTN2A3P BTN2A2
GH06I026052 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 62.8 -402.6 -402601 5.7 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 GC06M026056 GC06M026057 GC06M026058 GC06M026059 GC06M026061 HIST1H1C ABT1 HMGN4 ENSG00000272462 BTN2A1
GH06I027126 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 52.4 +680.1 680118 23 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC HIST1H2AH GC06P027140 HIST1H2AG HIST1H4I HIST1H2BJ HIST1H2BK ZKSCAN8 ABT1 HMGN4 BTN2A1
GH06I026214 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 52.4 -240.4 -240358 6.5 HDGF HNRNPUL1 PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 HIST1H2AE ENSG00000277720 GC06M026654 HIST1H2BG PIR48825 ABT1 HMGN4 BTN2A1 BTN2A3P BTN2A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTN2A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTN2A1 gene promoter:

Genomic Locations for BTN2A1 Gene

Genomic Locations for BTN2A1 Gene
18,718 bases
Plus strand

Genomic View for BTN2A1 Gene

Genes around BTN2A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTN2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTN2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTN2A1 Gene

Proteins for BTN2A1 Gene

  • Protein details for BTN2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Butyrophilin subfamily 2 member A1
    Protein Accession:
    Secondary Accessions:
    • B4DLP9
    • E9PGR4
    • O00475
    • P78408
    • Q59EN4
    • Q7KYQ7
    • Q7Z386
    • Q96AV7
    • Q9NU62

    Protein attributes for BTN2A1 Gene

    527 amino acids
    Molecular mass:
    59633 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAD93014.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB71221.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BTN2A1 Gene

neXtProt entry for BTN2A1 Gene

Post-translational modifications for BTN2A1 Gene

  • Ubiquitination at posLast=280280
  • Glycosylation at posLast=4646, Asn114, and posLast=120120
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BTN2A1 Gene

Domains & Families for BTN2A1 Gene

Gene Families for BTN2A1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
genes like me logo Genes that share domains with BTN2A1: view

Function for BTN2A1 Gene

Molecular function for BTN2A1 Gene

GENATLAS Biochemistry:
butyrophilin subfamily 2,member A1,B box family of proteins,involved in cell proliferation and development

Phenotypes From GWAS Catalog for BTN2A1 Gene

Gene Ontology (GO) - Molecular Function for BTN2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with BTN2A1: view

Phenotypes for BTN2A1 Gene

genes like me logo Genes that share phenotypes with BTN2A1: view

Animal Model Products

miRNA for BTN2A1 Gene

miRTarBase miRNAs that target BTN2A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTN2A1 Gene

Localization for BTN2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTN2A1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTN2A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BTN2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9382921
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with BTN2A1: view

Pathways & Interactions for BTN2A1 Gene

genes like me logo Genes that share pathways with BTN2A1: view

Pathways by source for BTN2A1 Gene

Gene Ontology (GO) - Biological Process for BTN2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 9382921
genes like me logo Genes that share ontologies with BTN2A1: view

No data available for SIGNOR curated interactions for BTN2A1 Gene

Drugs & Compounds for BTN2A1 Gene

No Compound Related Data Available

Transcripts for BTN2A1 Gene

Unigene Clusters for BTN2A1 Gene

Butyrophilin, subfamily 2, member A1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTN2A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b
SP2: -
SP3: -

Relevant External Links for BTN2A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BTN2A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTN2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BTN2A1 Gene

This gene is overexpressed in Breast (46.3) and Cerebrospinal fluid (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTN2A1 Gene

Protein tissue co-expression partners for BTN2A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BTN2A1 Gene:


SOURCE GeneReport for Unigene cluster for BTN2A1 Gene:


mRNA Expression by UniProt/SwissProt for BTN2A1 Gene:

Tissue specificity: Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderate expression was seen in lung, liver and kidney.

Evidence on tissue expression from TISSUES for BTN2A1 Gene

  • Nervous system(4.5)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with BTN2A1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTN2A1 Gene

Orthologs for BTN2A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BTN2A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BTN2A1 33
  • 99.11 (n)
-- 34
  • 37 (a)
(Canis familiaris)
Mammalia -- 34
  • 70 (a)
(Mus musculus)
Mammalia Btn2a2 34
  • 64 (a)
(Bos Taurus)
Mammalia -- 34
  • 57 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 53 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 40 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485231 33
  • 48.92 (n)
Species where no ortholog for BTN2A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BTN2A1 Gene

Gene Tree for BTN2A1 (if available)
Gene Tree for BTN2A1 (if available)

Paralogs for BTN2A1 Gene

Paralogs for BTN2A1 Gene

(12) SIMAP similar genes for BTN2A1 Gene using alignment to 4 proteins: Pseudogenes for BTN2A1 Gene

genes like me logo Genes that share paralogs with BTN2A1: view

Variants for BTN2A1 Gene

Sequence variations from dbSNP and Humsavar for BTN2A1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000091952 -- 26,474,829(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000478944 -- 26,467,544(+) T/G intron_variant
rs1000567954 -- 26,474,551(+) C/A genic_downstream_transcript_variant, intron_variant
rs1000602351 -- 26,469,706(+) T/C downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000695357 -- 26,457,568(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BTN2A1 Gene

Variant ID Type Subtype PubMed ID
dgv5927n100 CNV gain 25217958
dgv5928n100 CNV loss 25217958
esv2763996 CNV gain 21179565
esv3576106 CNV gain 25503493
nsv1017824 CNV gain+loss 25217958
nsv1023453 CNV gain 25217958
nsv1031938 CNV loss 25217958
nsv528172 CNV loss 19592680
nsv601185 CNV loss 21841781
nsv965689 CNV duplication 23825009

Variation tolerance for BTN2A1 Gene

Residual Variation Intolerance Score: 92.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.29; 76.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTN2A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN2A1 Gene

Disorders for BTN2A1 Gene

Additional Disease Information for BTN2A1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BTN2A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN2A1 Gene

Publications for BTN2A1 Gene

  1. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy DA … Feder JN (Genome research 1997) 2 3 4 58
  2. Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex. (PMID: 9382921) Tazi-Ahnini R … Pontarotti P (Immunogenetics 1997) 2 3 4 58
  3. The B7 homolog butyrophilin BTN2A1 is a novel ligand for DC-SIGN. (PMID: 17785817) Malcherek G … Trowsdale J (Journal of immunology (Baltimore, Md. : 1950) 2007) 3 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for BTN2A1 Gene

Sources for BTN2A1 Gene

Loading form....