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 metabol... See more...

Aliases for BTN2A1 Gene

Aliases for BTN2A1 Gene

  • Butyrophilin Subfamily 2 Member A1 2 3 4 5
  • BT2.1 2 3 4
  • BTF1 2 3 4
  • BTN2.1 2 3
  • Butyrophilin, Subfamily 2, Member A1 2
  • BK14H9.1 3
  • DJ3E1.1 3
  • BTN2A1 5

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 Butyrophilin (BTN) family interactions and Innate Immune System. An important paralog of this gene is BTN2A2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTN2A1 Gene

Genomics for BTN2A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BTN2A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTN2A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTN2A1

Top Transcription factor binding sites by QIAGEN in the BTN2A1 gene promoter:
  • Elk-1
  • MRF-2
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • p53
  • POU2F1
  • POU2F1a
  • STAT3

Genomic Locations for BTN2A1 Gene

Genomic Locations for BTN2A1 Gene
chr6:26,457,904-26,476,622
(GRCh38/hg38)
Size:
18,719 bases
Orientation:
Plus strand
chr6:26,458,150-26,476,849
(GRCh37/hg19)
Size:
18,700 bases
Orientation:
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:
    Q7KYR7-BT2A1_HUMAN
    Recommended name:
    Butyrophilin subfamily 2 member A1
    Protein Accession:
    Q7KYR7
    Secondary Accessions:
    • B4DLP9
    • E9PGR4
    • O00475
    • P78408
    • Q59EN4
    • Q7KYQ7
    • Q7Z386
    • Q96AV7
    • Q9NU62

    Protein attributes for BTN2A1 Gene

    Size:
    527 amino acids
    Molecular mass:
    59633 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD93014.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for BTN2A1 Gene

neXtProt entry for BTN2A1 Gene

Post-translational modifications for BTN2A1 Gene

  • Glycosylation at Asn46, Asn114, and Asn120
  • Ubiquitination at Lys295
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BTN2A1 Gene

Domains & Families for BTN2A1 Gene

Gene Families for BTN2A1 Gene

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

Protein Domains for BTN2A1 Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
  • Immunoglobulin subtype
  • Butyrophylin C-terminal DUF signature
  • SPRY-associated domain
ProtoNet:

Suggested Antigen Peptide Sequences for BTN2A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55336, highly similar to Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA (B4DLP9_HUMAN)
  • Butyrophilin subfamily 2 member A1 (BT2A1_HUMAN)
  • Butyrophilin, subfamily 2, member A1 (Q9H459_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7KYR7

UniProtKB/Swiss-Prot:

BT2A1_HUMAN :
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
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 --
GO:0005102 signaling receptor binding IBA 21873635
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with BTN2A1: view
genes like me logo Genes that share phenotypes with BTN2A1: view

Animal Model Products

CRISPR Products

miRNA for BTN2A1 Gene

miRTarBase miRNAs that target BTN2A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTN2A1

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

COMPARTMENTS
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
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1

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:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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:0001817 regulation of cytokine production IBA 21873635
GO:0006629 lipid metabolic process TAS 9382921
GO:0050776 regulation of immune response IBA 21873635
GO:0050852 T cell receptor signaling pathway IBA 21873635
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

mRNA/cDNA for BTN2A1 Gene

4 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTN2A1

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -
SP3: -
SP4:

Relevant External Links for BTN2A1 Gene

GeneLoc Exon Structure for
BTN2A1

Expression for BTN2A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTN2A1

SOURCE GeneReport for Unigene cluster for BTN2A1 Gene:

Hs.159028

mRNA Expression by UniProt/SwissProt for BTN2A1 Gene:

Q7KYR7-BT2A1_HUMAN
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(4.6)
  • Intestine(4.4)
  • Spleen(2.2)
  • Skin(2.1)
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
Chimpanzee
(Pan troglodytes)
Mammalia BTN2A1 30
  • 99.11 (n)
-- 31
  • 37 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 70 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Btn2a2 31
  • 64 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 57 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 53 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 40 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100485231 30
  • 48.92 (n)
Species where no ortholog for BTN2A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for BTN2A1 (if available)
TreeFam:
Gene Tree for BTN2A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BTN2A1: view image

Paralogs for BTN2A1 Gene

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

  • BT2A1_HUMAN
  • C9JNC3_HUMAN
  • H7BYC3_HUMAN
  • H7C542_HUMAN

Pseudogenes.org Pseudogenes for BTN2A1 Gene

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

Variants for BTN2A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTN2A1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
785160 Benign: not provided 26,467,973(+) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs13195401 - p.Trp178Leu
rs13195402 - p.Trp178Cys
rs13195509 - p.Val207Met
rs3734539 - p.Arg124Cys

Additional dbSNP identifiers (rs#s) for BTN2A1 Gene

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)
BTN2A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTN2A1

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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

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. 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
  2. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy DA … Feder JN (Genome research 1997) 2 3 4
  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 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for BTN2A1 Gene

Sources for BTN2A1 Gene