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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 ... See more...
Aliases for BTN3A3 Gene
Aliases for BTN3A3 Gene
External Ids for BTN3A3 Gene
- HGNC: 1140
- Entrez Gene: 10384
- Ensembl: ENSG00000111801
- OMIM: 613595
- UniProtKB: O00478
Previous GeneCards Identifiers for BTN3A3 Gene
- GC06P026498
- GC06P026427
- GC06P026548
- GC06P026441
- GC06P026384
- GC06P026442
- GC06P026443
- GC06P026446
- GC06P026447
- GC06P026448
- GC06P026449
- GC06P026450
- GC06P026451
- GC06P027338
- GC06P027452
- GC06P027575
- GC06P028022
- GC06P026456
- GC06P026513
- GC06P026811
- GC06P026912
- GC06P027012
- GC06P027084
- GC06P027240
Summaries 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 Innate Immune System. An important paralog of this gene is BTN3A1.
UniProtKB/Swiss-Prot Summary for BTN3A3 Gene
-
Plays a role in T-cell responses in the adaptive immune response.
Additional gene information for BTN3A3 Gene
- HGNC(1140)
- Entrez Gene(10384)
- Ensembl(ENSG00000111801)
- OMIM(613595)
- UniProtKB(O00478)
- Open Targets Platform(ENSG00000111801)
- Monarch Initiative
- Search for BTN3A3 at DataMed
- Search for BTN3A3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTN3A3 Gene
Genomics for BTN3A3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BTN3A3 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 BTN3A3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTN3A3
- Top Transcription factor binding sites by QIAGEN in the BTN3A3 gene promoter:
-
- ATF6
- MEF-2A
- NF-kappaB
- NF-kappaB1
- NF-kappaB2
- p53
- POU2F1
- POU2F1a
- STAT3
- YY1
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)
- Size:
- 12,944 bases
- Orientation:
- Plus strand
Genomic View for BTN3A3 Gene
Genes around BTN3A3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by HGNC
- 6p22.2 by Entrez Gene
- 6p22.2 by Ensembl
BTN3A3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for BTN3A3 Gene
Post-translational modifications for BTN3A3 Gene
Other Protein References for BTN3A3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-BTN3A3 (aa 66-96) polyclonal antibody
- Novus Biologicals Antibodies for BTN3A3
- Invitrogen Antibodies for BTN3A3 (AFLGC-BTN3A3)
- Sino Biological Antibodies for BTN3A3
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for BTN3A3
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-
ProSci Proteins for BTN3A3
-
Abcam proteins for BTN3A3
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
Protein Domains for BTN3A3 Gene
- InterPro:
- Blocks:
-
- Immunoglobulin V-set
- Immunoglobulin subtype
- Butyrophylin C-terminal DUF signature
- SPRY-associated domain
- ProtoNet:
Suggested Antigen Peptide Sequences for BTN3A3 Gene
- GenScript: Design optimal peptide antigens:
-
- Butyrophilin subfamily 3 member A3 (BT3A3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O00478- Family:
-
- Belongs to the immunoglobulin superfamily. BTN/MOG family.
Function for BTN3A3 Gene
Molecular function for BTN3A3 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in T-cell responses in the adaptive immune response.
- GENATLAS Biochemistry:
- butyrophilin subfamily 3,member A3,B box family of proteins,involved in cell proliferation and development
Phenotypes From GWAS Catalog for BTN3A3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IBA | 21873635 |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for BTN3A3 Gene
- GenomeRNAi human phenotypes for BTN3A3:
Animal Model Products
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CRISPR Products
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-
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miRNA for BTN3A3 Gene
- miRTarBase miRNAs that target BTN3A3
-
- hsa-miR-335-5p (MIRT018863)
- hsa-miR-106b-5p (MIRT020447)
- hsa-miR-26b-5p (MIRT030012)
- hsa-miR-615-3p (MIRT039804)
- hsa-miR-21-5p (MIRT441093)
- hsa-miR-20a-5p (MIRT441094)
- hsa-miR-4524b-5p (MIRT559140)
- hsa-miR-4524a-5p (MIRT559141)
- hsa-miR-4660 (MIRT559142)
- hsa-miR-302a-5p (MIRT559143)
- hsa-miR-6736-3p (MIRT559144)
- hsa-miR-5692c (MIRT559145)
- hsa-miR-5692b (MIRT559146)
- hsa-miR-4274 (MIRT559147)
- hsa-miR-3163 (MIRT559148)
- hsa-miR-646 (MIRT559149)
- hsa-miR-1277-5p (MIRT559150)
- hsa-miR-513c-3p (MIRT559151)
- hsa-miR-513a-3p (MIRT559152)
- hsa-miR-3606-3p (MIRT559153)
- hsa-miR-548e-5p (MIRT559154)
- hsa-miR-15a-5p (MIRT559155)
- hsa-miR-15b-5p (MIRT559156)
- hsa-miR-195-5p (MIRT559157)
- hsa-miR-424-5p (MIRT559158)
- hsa-miR-497-5p (MIRT559159)
- hsa-miR-6838-5p (MIRT559160)
- hsa-miR-16-5p (MIRT559161)
- hsa-miR-503-5p (MIRT559162)
- hsa-miR-568 (MIRT572219)
- hsa-miR-527 (MIRT572220)
- hsa-miR-518a-5p (MIRT572221)
- hsa-miR-223-5p (MIRT572222)
- hsa-miR-219b-3p (MIRT572223)
- hsa-miR-22-3p (MIRT572224)
- hsa-miR-548p (MIRT572225)
- hsa-miR-186-5p (MIRT572226)
- hsa-miR-219a-2-3p (MIRT572227)
- hsa-miR-93-5p (MIRT728172)
- hsa-miR-519d-3p (MIRT728173)
- hsa-miR-20b-5p (MIRT728174)
- hsa-miR-17-5p (MIRT728175)
miRNA Products
Inhibitory RNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for BTN3A3
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| nucleus | 2 |
| cytosol | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 0 |
| peroxisome | 0 |
| endoplasmic reticulum | 0 |
| lysosome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0009897 | external side of plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTN3A3 Gene
Pathways & Interactions for BTN3A3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Butyrophilin (BTN) family interactions | ||
| 3 | Innate Immune System |
.61
|
|
Pathways by source for BTN3A3 Gene
3 Reactome pathways for BTN3A3 Gene
Interacting Proteins for BTN3A3 Gene
GPS-Prot Interaction Network for BTN3A3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001817 | regulation of cytokine production | IBA | 21873635 |
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002456 | T cell mediated immunity | IMP | 22767497 |
| GO:0050776 | regulation of immune response | IBA | 21873635 |
No data available for SIGNOR curated interactions for BTN3A3 Gene
Transcripts for BTN3A3 Gene
mRNA/cDNA for BTN3A3 Gene
- 3 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000494393 671 nts (view in UCSC)
- ENST00000482451 626 nts (view in UCSC)
- ENST00000244519 2970 nts (view in UCSC)
- ENST00000471353 697 nts (view in UCSC)
- ENST00000361232 2294 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BTN3A3 - Select products 50% OFF >
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-
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BTN3A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTN3A3
miRNA Products
Inhibitory RNA Products
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Clone Products
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-
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Relevant External Links for BTN3A3 Gene
- GeneLoc Exon Structure for
- BTN3A3
Expression 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, MaxQB, and MOPED for BTN3A3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTN3A3
SOURCE GeneReport for Unigene cluster for BTN3A3 Gene:
Hs.167741mRNA 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(4.3)
- Blood(2.4)
- Spleen(2.2)
- Lymph node(2.1)
- Nervous system(2.1)
Primer Products
-
OriGene qPCR primer pairs and template standards for BTN3A3
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BTN3A3 30 |
|
||
| BTN3A1 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | BTN3A3 30 |
|
||
| -- 31 |
|
ManyToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| Mouse (Mus musculus) |
Mammalia | Btnl4 31 |
|
ManyToMany | |
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:175177 30 |
|
- Species where no ortholog for BTN3A3 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)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for BTN3A3: view image
Paralogs for BTN3A3 Gene
Paralogs for BTN3A3 Gene
(22) SIMAP similar genes for BTN3A3 Gene using alignment to 9 proteins:
- BT3A3_HUMAN
- C9J3Q8_HUMAN
- C9J877_HUMAN
- C9JNZ3_HUMAN
- C9JQT8_HUMAN
- C9JUV8_HUMAN
- C9JVU4_HUMAN
- C9JZT5_HUMAN
- D0FY33_HUMAN
Pseudogenes.org Pseudogenes for BTN3A3 Gene
Variants for BTN3A3 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5927n100 | CNV | gain | 25217958 |
| dgv5928n100 | CNV | loss | 25217958 |
| esv2731730 | CNV | deletion | 23290073 |
| esv2763996 | CNV | gain | 21179565 |
| esv3576106 | CNV | gain | 25503493 |
| esv3608402 | CNV | loss | 21293372 |
| esv3608406 | CNV | loss | 21293372 |
| esv3890802 | CNV | loss | 25118596 |
| nsv1017824 | CNV | gain+loss | 25217958 |
| nsv1023453 | CNV | gain | 25217958 |
| nsv528172 | CNV | loss | 19592680 |
| nsv601184 | CNV | gain | 21841781 |
| nsv969359 | CNV | duplication | 23825009 |
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)
Additional Variant Information for BTN3A3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- BTN3A3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTN3A3 Gene
Disorders for BTN3A3 Gene
Additional Disease Information for 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
- A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy DA … Feder JN (Genome research 1997) 2 3 4
- 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
- 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
- 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
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
ExternalLinks
Products for BTN3A3 Gene
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- antibodies-online: Show 9 available BTN3A3 Antibodies ranked by validation data
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Sources for BTN3A3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
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