Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. Th... See more...

Aliases for BTN2A2 Gene

Aliases for BTN2A2 Gene

  • Butyrophilin Subfamily 2 Member A2 2 3 4 5
  • BT2.2 2 3 4
  • BTF2 2 3 4
  • BTN2.2 2 3
  • Butyrophilin, Subfamily 2, Member A2 2
  • Butyrophilin 2 3
  • BTN2A2 5

External Ids for BTN2A2 Gene

Previous GeneCards Identifiers for BTN2A2 Gene

  • GC06P026440
  • GC06P026445
  • GC06P026491
  • GC06P026383
  • GC06P026332

Summaries for BTN2A2 Gene

Entrez Gene Summary for BTN2A2 Gene

  • Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

GeneCards Summary for BTN2A2 Gene

BTN2A2 (Butyrophilin Subfamily 2 Member A2) 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 BTN2A1.

UniProtKB/Swiss-Prot Summary for BTN2A2 Gene

  • Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion.

Gene Wiki entry for BTN2A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTN2A2 Gene

Genomics for BTN2A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BTN2A2 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 BTN2A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTN2A2

Top Transcription factor binding sites by QIAGEN in the BTN2A2 gene promoter:
  • Elk-1
  • En-1
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • p53
  • POU2F1
  • POU2F1a
  • STAT3

Genomic Locations for BTN2A2 Gene

Genomic Locations for BTN2A2 Gene
chr6:26,382,893-26,394,874
(GRCh38/hg38)
Size:
11,982 bases
Orientation:
Plus strand
chr6:26,383,324-26,395,102
(GRCh37/hg19)
Size:
11,779 bases
Orientation:
Plus strand

Genomic View for BTN2A2 Gene

Genes around BTN2A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTN2A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTN2A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTN2A2 Gene

Proteins for BTN2A2 Gene

  • Protein details for BTN2A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVV5-BT2A2_HUMAN
    Recommended name:
    Butyrophilin subfamily 2 member A2
    Protein Accession:
    Q8WVV5
    Secondary Accessions:
    • A6NM84
    • B4DE97
    • B4DQ01
    • E9PH07
    • O00480

    Protein attributes for BTN2A2 Gene

    Size:
    523 amino acids
    Molecular mass:
    59070 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BTN2A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTN2A2 Gene

Post-translational modifications for BTN2A2 Gene

  • N-glycosylated.
  • Glycosylation at Asn50, Asn220, Asn226, and Asn118
  • Ubiquitination at Lys105 and Lys513
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BTN2A2 Gene

Domains & Families for BTN2A2 Gene

Gene Families for BTN2A2 Gene

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

Protein Domains for BTN2A2 Gene

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

Suggested Antigen Peptide Sequences for BTN2A2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75106, highly similar to Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 2, mRNA (A6NM84_HUMAN)
  • cDNA FLJ52717, highly similar to Butyrophilin subfamily 2 member A2 (B4DQ01_HUMAN)
  • Butyrophilin subfamily 2 member A2 (BT2A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WVV5

UniProtKB/Swiss-Prot:

BT2A2_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 BTN2A2: view

Function for BTN2A2 Gene

Molecular function for BTN2A2 Gene

UniProtKB/Swiss-Prot Function:
Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion.
GENATLAS Biochemistry:
butyrophilin subfamily 2,member A2,B box family of proteins,involved in cell proliferation and development

Phenotypes From GWAS Catalog for BTN2A2 Gene

Gene Ontology (GO) - Molecular Function for BTN2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with BTN2A2: view
genes like me logo Genes that share phenotypes with BTN2A2: view

Animal Models for BTN2A2 Gene

MGI Knock Outs for BTN2A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTN2A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BTN2A2 Gene

Localization for BTN2A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTN2A2 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 BTN2A2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BTN2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BTN2A2: view

Pathways & Interactions for BTN2A2 Gene

genes like me logo Genes that share pathways with BTN2A2: view

Pathways by source for BTN2A2 Gene

Gene Ontology (GO) - Biological Process for BTN2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IBA 21873635
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IEA --
GO:0031324 negative regulation of cellular metabolic process ISS --
GO:0045591 positive regulation of regulatory T cell differentiation IEA --
GO:0046007 negative regulation of activated T cell proliferation ISS --
genes like me logo Genes that share ontologies with BTN2A2: view

No data available for SIGNOR curated interactions for BTN2A2 Gene

Drugs & Compounds for BTN2A2 Gene

No Compound Related Data Available

Transcripts for BTN2A2 Gene

mRNA/cDNA for BTN2A2 Gene

6 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
16 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 BTN2A2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTN2A2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1: - - - - - - -
SP2: - - - - -
SP3:
SP4:
SP5: -
SP6: - - -
SP7: - -
SP8:

Relevant External Links for BTN2A2 Gene

GeneLoc Exon Structure for
BTN2A2

Expression for BTN2A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BTN2A2 Gene

Protein differential expression in normal tissues from HIPED for BTN2A2 Gene

This gene is overexpressed in Urine (57.2) and Heart (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTN2A2 Gene



Protein tissue co-expression partners for BTN2A2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTN2A2

SOURCE GeneReport for Unigene cluster for BTN2A2 Gene:

Hs.373938

mRNA Expression by UniProt/SwissProt for BTN2A2 Gene:

Q8WVV5-BT2A2_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 BTN2A2 Gene

  • Nervous system(4.5)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with BTN2A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTN2A2 Gene

Orthologs for BTN2A2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BTN2A2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BTN2A2 30 31
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BTN2A2 30
  • 80.37 (n)
-- 31
  • 72 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Btn2a2 30 17 31
  • 77.36 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Btn2a2 30
  • 76.08 (n)
Cow
(Bos Taurus)
Mammalia BTN2A1 30
  • 73.69 (n)
-- 31
  • 58 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 57 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 40 (a)
OneToMany
Species where no ortholog for BTN2A2 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)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for BTN2A2 Gene

ENSEMBL:
Gene Tree for BTN2A2 (if available)
TreeFam:
Gene Tree for BTN2A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BTN2A2: view image

Paralogs for BTN2A2 Gene

(19) SIMAP similar genes for BTN2A2 Gene using alignment to 9 proteins:

  • BT2A2_HUMAN
  • C9IY66_HUMAN
  • C9IZY2_HUMAN
  • C9J8J5_HUMAN
  • C9J8R3_HUMAN
  • C9JAJ6_HUMAN
  • C9JWH2_HUMAN
  • F8WC65_HUMAN
  • H7C4E8_HUMAN
genes like me logo Genes that share paralogs with BTN2A2: view

Variants for BTN2A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTN2A2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
720365 Benign: not provided 26,390,079(+) T/G MISSENSE_VARIANT
778227 Benign: not provided 26,392,830(+) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
782472 Benign: not provided 26,392,677(+) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
790029 Benign: not provided 26,383,832(+) C/T MISSENSE_VARIANT
790030 Benign: not provided 26,385,035(+) C/G MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for BTN2A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for BTN2A2 Gene

Variant ID Type Subtype PubMed ID
esv2731728 CNV deletion 23290073
esv2731730 CNV deletion 23290073
esv3608402 CNV loss 21293372
esv3608403 CNV loss 21293372
esv3608404 CNV gain 21293372
esv3890802 CNV loss 25118596
nsv1023453 CNV gain 25217958
nsv1030863 CNV gain+loss 25217958
nsv601184 CNV gain 21841781
nsv970087 CNV duplication 23825009

Variation tolerance for BTN2A2 Gene

Residual Variation Intolerance Score: 95.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.24; 70.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTN2A2 Gene

Human Gene Mutation Database (HGMD)
BTN2A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTN2A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN2A2 Gene

Disorders for BTN2A2 Gene

Additional Disease Information for BTN2A2

No disorders were found for BTN2A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN2A2 Gene

Publications for BTN2A2 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
  2. Common variants on chromosome 6p22.1 are associated with schizophrenia. (PMID: 19571809) Shi J … Gejman PV (Nature 2009) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 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 BTN2A2 Gene

Sources for BTN2A2 Gene