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Aliases for BTN3A3 Gene

Aliases for BTN3A3 Gene

  • Butyrophilin Subfamily 3 Member A3 2 3 5
  • BTF3 3 4
  • Butyrophilin Subfamily 3 Member A3 Secreted Isoform 3
  • Butyrophilin, Subfamily 3, Member A3 2
  • Butyrophilin 3 3
  • BTN3.3 3

External Ids for BTN3A3 Gene

Previous GeneCards Identifiers for BTN3A3 Gene

  • GC06P026498
  • GC06P026427
  • GC06P026548
  • GC06P026441
  • GC06P026384
  • GC06P026442
  • GC06P026443
  • GC06P026446
  • GC06P026447
  • GC06P026448
  • GC06P026449
  • GC06P026450
  • GC06P026451
  • GC06P026456
  • GC06P026513
  • GC06P026811

Summaries for BTN3A3 Gene

Entrez Gene Summary for BTN3A3 Gene

  • The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]

GeneCards Summary for BTN3A3 Gene

BTN3A3 (Butyrophilin Subfamily 3 Member A3) is a Protein Coding gene. Among its related pathways are Butyrophilin (BTN) family interactions and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is BTN3A1.

UniProtKB/Swiss-Prot for BTN3A3 Gene

  • Plays a role in T-cell responses in the adaptive immune response.

Gene Wiki entry for BTN3A3 Gene

Additional gene information for BTN3A3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTN3A3 Gene

Genomics for BTN3A3 Gene

Regulatory Elements for BTN3A3 Gene

Enhancers for BTN3A3 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
GH06H026019 1.9 FANTOM5 ENCODE dbSUPER 10.5 -412.9 -412886 16.2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ABT1 BTN2A1 BTN2A3P HMGN4 ENSG00000272462 BTN2A2 BTN3A2 ZNF322 HIST1H2APS5 NUP50P2
GH06H026349 1.6 Ensembl ENCODE dbSUPER 8.1 -89.3 -89266 3.4 PKNOX1 FOXA2 ARNT ARID4B SLC30A9 ZNF766 FOS SP5 NFYC ZNF592 BTN3A2 BTN2A1 BTN2A2 BTN2A3P BTN3A1 BTN3A3 ENSG00000272312 LOC101928743
GH06H026363 1.4 ENCODE dbSUPER 7.7 -74.8 -74800 3.9 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 BTN3A2 BTN2A2 BTN2A1 GUSBP2 BTN2A3P ABT1 BTN3A1 HMGN4 ZNF322 BTN3A3
GH06H026520 1.6 FANTOM5 ENCODE 5.6 +81.3 81289 3.4 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D SSRP1 ZNF610 NBN ZNF322 LOC102724851 ABT1 BTN2A3P HMGN4 BTN1A1 GUSBP2 HIST1H2APS4 HIST1H3G BTN3A3
GH06H027126 1.7 Ensembl ENCODE dbSUPER 4.7 +697.6 697551 23 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZFP41 MEF2D SSRP1 ZNF610 ZKSCAN8 ABT1 HMGN4 ZNF322 BTN2A3P BTN2A1 LOC102724851 BTN2A2 ZNF391 ENSG00000261839
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTN3A3 on UCSC Golden Path with GeneCards custom track

Promoters for BTN3A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195035 328 1601 HDGF FOXA2 ATF1 DMAP1 ZNF2 YY1 ZNF143 CAVIN1 NFYC NCOA1

Genomic Locations for BTN3A3 Gene

Genomic Locations for BTN3A3 Gene
chr6:26,440,472-26,453,415
(GRCh38/hg38)
Size:
12,944 bases
Orientation:
Plus strand
chr6:26,440,700-26,453,643
(GRCh37/hg19)

Genomic View for BTN3A3 Gene

Genes around BTN3A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTN3A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTN3A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTN3A3 Gene

Proteins for BTN3A3 Gene

  • Protein details for BTN3A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00478-BT3A3_HUMAN
    Recommended name:
    Butyrophilin subfamily 3 member A3
    Protein Accession:
    O00478
    Secondary Accessions:
    • B4DWI7
    • E9PCP5

    Protein attributes for BTN3A3 Gene

    Size:
    584 amino acids
    Molecular mass:
    65002 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for BTN3A3 Gene

    Alternative splice isoforms for BTN3A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTN3A3 Gene

Post-translational modifications for BTN3A3 Gene

No data available for DME Specific Peptides for BTN3A3 Gene

Domains & Families for BTN3A3 Gene

Gene Families for BTN3A3 Gene

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

Suggested Antigen Peptide Sequences for BTN3A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00478

UniProtKB/Swiss-Prot:

BT3A3_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 BTN3A3: view

Function for BTN3A3 Gene

Molecular function for BTN3A3 Gene

GENATLAS Biochemistry:
butyrophilin subfamily 3,member A3,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.

Phenotypes From GWAS Catalog for BTN3A3 Gene

Phenotypes for BTN3A3 Gene

GenomeRNAi human phenotypes for BTN3A3:
genes like me logo Genes that share phenotypes with BTN3A3: view

Clone 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 BTN3A3 Gene

Localization for BTN3A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTN3A3 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 BTN3A3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2
golgi apparatus 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BTN3A3 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 BTN3A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTN3A3 Gene

Pathways & Interactions for BTN3A3 Gene

genes like me logo Genes that share pathways with BTN3A3: view

Pathways by source for BTN3A3 Gene

Gene Ontology (GO) - Biological Process for BTN3A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002456 T cell mediated immunity IMP 22767497
genes like me logo Genes that share ontologies with BTN3A3: view

No data available for SIGNOR curated interactions for BTN3A3 Gene

Drugs & Compounds for BTN3A3 Gene

No Compound Related Data Available

Transcripts for BTN3A3 Gene

Unigene Clusters for BTN3A3 Gene

Butyrophilin, subfamily 3, member A3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTN3A3 Gene

No ASD Table

Relevant External Links for BTN3A3 Gene

GeneLoc Exon Structure for
BTN3A3
ECgene alternative splicing isoforms for
BTN3A3

Expression for BTN3A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTN3A3 Gene

Protein differential expression in normal tissues from HIPED for BTN3A3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.1), CD4 Tcells (10.0), CD8 Tcells (8.5), Frontal cortex (7.7), and Spleen (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BTN3A3 Gene



Protein tissue co-expression partners for BTN3A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of BTN3A3 Gene:

BTN3A3

SOURCE GeneReport for Unigene cluster for BTN3A3 Gene:

Hs.167741

mRNA Expression by UniProt/SwissProt for BTN3A3 Gene:

O00478-BT3A3_HUMAN
Tissue specificity: Detected in peripheral blood mononuclear cells and in T-cells (at protein level). Detected in spleen and lymphocytes.

Evidence on tissue expression from TISSUES for BTN3A3 Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with BTN3A3: 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 BTN3A3 Gene

Orthologs for BTN3A3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BTN3A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTN3A3 33
  • 99.03 (n)
BTN3A1 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BTN3A3 33
  • 78.35 (n)
-- 34
  • 36 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 44 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 37 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 37 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Btnl4 34
  • 35 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii zgc:175177 33
  • 45.57 (n)
Species where no ortholog for BTN3A3 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)

Evolution for BTN3A3 Gene

ENSEMBL:
Gene Tree for BTN3A3 (if available)
TreeFam:
Gene Tree for BTN3A3 (if available)

Paralogs for BTN3A3 Gene

Paralogs for BTN3A3 Gene

Pseudogenes.org Pseudogenes for BTN3A3 Gene

genes like me logo Genes that share paralogs with BTN3A3: view

Variants for BTN3A3 Gene

Sequence variations from dbSNP and Humsavar for BTN3A3 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000131219 -- 26,451,294(+) AATAG(A/G)CTGCA intron-variant
rs1000329627 -- 26,449,482(+) AACCA(A/G)TGTTC intron-variant
rs1000446575 -- 26,442,945(+) ATTGT(A/G)GGTGC intron-variant
rs1000742225 -- 26,444,809(+) TGTGG(C/T)GAGGT intron-variant
rs1000940881 -- 26,439,434(+) ACTCA(C/T)ACTCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BTN3A3 Gene

Variant ID Type Subtype PubMed ID
nsv969359 CNV duplication 23825009
nsv601184 CNV gain 21841781
nsv528172 CNV loss 19592680
nsv1023453 CNV gain 25217958
nsv1017824 CNV gain+loss 25217958
esv3890802 CNV loss 25118596
esv3608406 CNV loss 21293372
esv3608402 CNV loss 21293372
esv3576106 CNV gain 25503493
esv2763996 CNV gain 21179565
esv2731730 CNV deletion 23290073
dgv5928n100 CNV loss 25217958
dgv5927n100 CNV gain 25217958

Variation tolerance for BTN3A3 Gene

Residual Variation Intolerance Score: 94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTN3A3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTN3A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN3A3 Gene

Disorders for BTN3A3 Gene

Relevant External Links for BTN3A3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTN3A3

No disorders were found for BTN3A3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN3A3 Gene

Publications for BTN3A3 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 60
  2. Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human γδ T-cell subset. (PMID: 22767497) Harly C … Scotet E (Blood 2012) 3 4 60
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 60
  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 60
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 60

Products for BTN3A3 Gene

Sources for BTN3A3 Gene

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