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Aliases for BTN3A2 Gene

Aliases for BTN3A2 Gene

  • Butyrophilin Subfamily 3 Member A2 2 3 5
  • BT3.2 3 4
  • BTF4 3 4
  • Butyrophilin, Subfamily 3, Member A2 2
  • Butyrophilin Protein 3
  • BTN3.2 3
  • CD277 3
  • BTF3 4

External Ids for BTN3A2 Gene

Previous GeneCards Identifiers for BTN3A2 Gene

  • GC06P026423
  • GC06P026473
  • GC06P026308

Summaries for BTN3A2 Gene

Entrez Gene Summary for BTN3A2 Gene

  • This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

GeneCards Summary for BTN3A2 Gene

BTN3A2 (Butyrophilin Subfamily 3 Member A2) 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 BTN3A3.

UniProtKB/Swiss-Prot for BTN3A2 Gene

  • Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from activated T-cells.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTN3A2 Gene

Genomics for BTN3A2 Gene

Regulatory Elements for BTN3A2 Gene

Enhancers for BTN3A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G026549 1.9 FANTOM5 Ensembl ENCODE dbSUPER 52.7 +185.4 185370 1.3 ATF1 MLX ZFP64 ARID4B SIN3A ZNF48 YY1 ZNF143 KLF13 SP5 BTN3A2 HMGN4 ABT1 LOC102724851 PIR59270 GC06P026845 GC06P026911
GH06G026363 1.4 ENCODE dbSUPER 68.5 +0.5 514 3.9 FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 BTN3A2 HMGN4 ABT1 ENSG00000261353 BTN2A3P BTN2A2 HIST1H1D BTN3A1 GUSBP2 ZNF322
GH06G026567 1.7 Ensembl ENCODE dbSUPER 52.6 +205.4 205368 5.3 CREB3L1 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3 BTN3A2 HMGN4 ABT1 LOC102724851 BTN2A1 HCG11 RNU6-502P HIST1H1D BTN1A1 HIST1H4H
GH06G026471 1.6 Ensembl ENCODE dbSUPER 53.2 +110.6 110622 7.6 HDGF FOXA2 PKNOX1 MLX ARNT WRNIP1 SIN3A ARID4B DMAP1 FEZF1 BTN3A2 BTN2A2 HMGN4 HCG11 BTN2A3P BTN2A1 RNU6-502P BTN1A1 LOC102724851 HIST1H2AH
GH06G027176 1.8 FANTOM5 Ensembl ENCODE 34.8 +812.5 812454 3.2 AGO1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 SSRP1 ZNF610 RCOR2 ABT1 BTN3A2 ZKSCAN8 ZNF204P ZNF391 HIST1H2BK ENSG00000261353 ZNF192P1 POM121L2 ZNF603P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTN3A2 on UCSC Golden Path with GeneCards custom track

Promoters for BTN3A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195026 341 1801 FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1

Transcription factor binding sites by QIAGEN in the BTN3A2 gene promoter:

Genomic Location for BTN3A2 Gene

Chromosome:
6
Start:
26,365,159 bp from pter
End:
26,451,653 bp from pter
Size:
86,495 bases
Orientation:
Plus strand

Genomic View for BTN3A2 Gene

Genes around BTN3A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTN3A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTN3A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTN3A2 Gene

Proteins for BTN3A2 Gene

  • Protein details for BTN3A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78410-BT3A2_HUMAN
    Recommended name:
    Butyrophilin subfamily 3 member A2
    Protein Accession:
    P78410
    Secondary Accessions:
    • B4DRT7
    • B4E103
    • F5H791
    • F8W6E0
    • O00477
    • O15338
    • O75658
    • Q76PA0
    • Q9BU81
    • Q9NR44

    Protein attributes for BTN3A2 Gene

    Size:
    334 amino acids
    Molecular mass:
    36428 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAB53424.1; Type=Frameshift; Positions=317; Evidence={ECO:0000305}; Sequence=AAC02652.1; Type=Frameshift; Positions=334; Evidence={ECO:0000305}; Sequence=AAC02655.1; Type=Frameshift; Positions=334; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BTN3A2 Gene

    Alternative splice isoforms for BTN3A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTN3A2 Gene

Post-translational modifications for BTN3A2 Gene

No data available for DME Specific Peptides for BTN3A2 Gene

Domains & Families for BTN3A2 Gene

Gene Families for BTN3A2 Gene

Protein Domains for BTN3A2 Gene

Suggested Antigen Peptide Sequences for BTN3A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78410

UniProtKB/Swiss-Prot:

BT3A2_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 BTN3A2: view

Function for BTN3A2 Gene

Molecular function for BTN3A2 Gene

GENATLAS Biochemistry:
butyrophilin subfamily 3,member A2,B box family of proteins,involved in cell proliferation and development
UniProtKB/Swiss-Prot Function:
Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from activated T-cells.
genes like me logo Genes that share phenotypes with BTN3A2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTN3A2 Gene

Localization for BTN3A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTN3A2 Gene

Cell 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 BTN3A2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BTN3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BTN3A2: view

Pathways & Interactions for BTN3A2 Gene

genes like me logo Genes that share pathways with BTN3A2: view

Pathways by source for BTN3A2 Gene

Gene Ontology (GO) - Biological Process for BTN3A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002456 T cell mediated immunity IMP 22767497
GO:0072643 interferon-gamma secretion IMP 21918970
genes like me logo Genes that share ontologies with BTN3A2: view

No data available for SIGNOR curated interactions for BTN3A2 Gene

Transcripts for BTN3A2 Gene

Unigene Clusters for BTN3A2 Gene

Butyrophilin, subfamily 3, member A2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTN3A2 Gene

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

Relevant External Links for BTN3A2 Gene

GeneLoc Exon Structure for
BTN3A2
ECgene alternative splicing isoforms for
BTN3A2

Expression for BTN3A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTN3A2 Gene

mRNA differential expression in normal tissues according to GTEx for BTN3A2 Gene

This gene is overexpressed in Whole Blood (x5.4) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for BTN3A2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.9), Ovary (26.2), and CD8 Tcells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BTN3A2 Gene



Protein tissue co-expression partners for BTN3A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTN3A2 Gene:

BTN3A2

SOURCE GeneReport for Unigene cluster for BTN3A2 Gene:

Hs.376046

mRNA Expression by UniProt/SwissProt for BTN3A2 Gene:

P78410-BT3A2_HUMAN
Tissue specificity: Detected in T-cells and natural killer cells.

Evidence on tissue expression from TISSUES for BTN3A2 Gene

  • Skin(4.5)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with BTN3A2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTN3A2 Gene

Orthologs for BTN3A2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BTN3A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTN3A2 34
  • 97.06 (n)
mouse
(Mus musculus)
Mammalia Btnl10 35
  • 33 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 25 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 20 (a)
ManyToMany
-- 35
  • 18 (a)
ManyToMany
-- 35
  • 17 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 19 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 3 (a)
OneToMany
Species where no ortholog for BTN3A2 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BTN3A2 Gene

ENSEMBL:
Gene Tree for BTN3A2 (if available)
TreeFam:
Gene Tree for BTN3A2 (if available)

Paralogs for BTN3A2 Gene

Paralogs for BTN3A2 Gene

genes like me logo Genes that share paralogs with BTN3A2: view

Variants for BTN3A2 Gene

Sequence variations from dbSNP and Humsavar for BTN3A2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000037255 -- 26,379,560(+) CTCCA(C/T)TTCCC intron-variant
rs1000056196 -- 26,366,798(+) AGCAG(A/C)TGGTA intron-variant, upstream-variant-2KB
rs1000062323 -- 26,379,382(+) ATAAA(C/T)TGAGA intron-variant
rs1000131219 -- 26,451,294(+) AATAG(A/G)CTGCA intron-variant
rs1000200032 -- 26,390,572(+) TAAAC(A/G)AAGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BTN3A2 Gene

Variant ID Type Subtype PubMed ID
esv2673332 CNV deletion 23128226
esv2731728 CNV deletion 23290073
esv2731730 CNV deletion 23290073
esv3608402 CNV loss 21293372
esv3608403 CNV loss 21293372
esv3608404 CNV gain 21293372
esv3608405 CNV loss 21293372
esv3890802 CNV loss 25118596
nsv1023453 CNV gain 25217958
nsv1030863 CNV gain+loss 25217958
nsv527328 CNV loss 19592680
nsv970085 CNV duplication 23825009
nsv970086 CNV duplication 23825009

Variation tolerance for BTN3A2 Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.70; 83.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTN3A2 Gene

Human Gene Mutation Database (HGMD)
BTN3A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTN3A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN3A2 Gene

Disorders for BTN3A2 Gene

Relevant External Links for BTN3A2

Genetic Association Database (GAD)
BTN3A2
Human Genome Epidemiology (HuGE) Navigator
BTN3A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTN3A2

No disorders were found for BTN3A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN3A2 Gene

Publications for BTN3A2 Gene

  1. A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy D.A. … Feder J.N. (Genome Res. 1997) 2 3 4 64
  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) 3 4 22 64
  3. Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human gammadelta T-cell subset. (PMID: 22767497) Harly C. … Scotet E. (Blood 2012) 3 4 64
  4. The molecular basis for modulation of human Vgamma9Vdelta2 T cell responses by CD277/butyrophilin-3 (BTN3A)-specific antibodies. (PMID: 22846996) Palakodeti A. … Adams E.J. (J. Biol. Chem. 2012) 3 4 64
  5. Differential role for CD277 as a co-regulator of the immune signal in T and NK cells. (PMID: 21918970) Messal N. … Olive D. (Eur. J. Immunol. 2011) 3 4 64

Products for BTN3A2 Gene

Sources for BTN3A2 Gene

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