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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., BTN2A3) and ... See more...
Aliases for BTN2A3P Gene
Aliases for BTN2A3P Gene
External Ids for BTN2A3P Gene
- HGNC: 13229
- Entrez Gene: 54718
- Ensembl: ENSG00000124549
- OMIM: 613592
- UniProtKB: Q96KV6
Previous HGNC Symbols for BTN2A3P Gene
- BTN2A3
Previous GeneCards Identifiers for BTN2A3P Gene
- GC06P026425
- GC06P026426
- GC06P026428
- GC06P026430
- GC06P026431
- GC06P026432
- GC06P027335
- GC06P027451
- GC06P027574
- GC06P028021
- GC06P026437
- GC06P026509
- GC06P026809
- GC06P026911
- GC06P027011
- GC06P027082
- GC06P027239
Summaries for BTN2A3P 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., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) 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 BTN2A3P Gene
BTN2A3P (Butyrophilin Subfamily 2 Member A3, Pseudogene) is a Pseudogene.
Additional gene information for BTN2A3P Gene
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTN2A3P Gene
Genomics for BTN2A3P Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BTN2A3P 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 BTN2A3P on the GeneHancer Hub at the UCSC Golden Path
Genomic Locations for BTN2A3P Gene
Genomic Locations for BTN2A3P Gene
- chr6:26,421,391-26,432,383
- (GRCh38/hg38)
- Size:
- 10,993 bases
- Orientation:
- Plus strand
- chr6:26,421,619-26,432,611
- (GRCh37/hg19)
- Size:
- 10,993 bases
- Orientation:
- Plus strand
Genomic View for BTN2A3P Gene
Genes around BTN2A3P on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by HGNC
- 6p22.2 by Entrez Gene
- 6p22.2 by Ensembl
BTN2A3P 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 BTN2A3P Gene
Proteins for BTN2A3P Gene
-
Protein details for BTN2A3P Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96KV6-BT2A3_HUMAN
- Recommended name:
- Putative butyrophilin subfamily 2 member A3
- Protein Accession:
- Q96KV6
- A6NEF4
Protein attributes for BTN2A3P Gene
- Size:
- 586 amino acids
- Molecular mass:
- 65713 Da
- Quaternary structure:
- No Data Available
Protein Expression for BTN2A3P Gene
Post-translational modifications for BTN2A3P Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for BTN2A3P
- Invitrogen Antibodies for BTN2A3P (AFLGC-BTN2A3P)
- antibodies-online: Show 11 available BTN2A3P Antibodies ranked by validation data
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for BTN2A3P
- Origene Custom Protein Services for BTN2A3P
No data available for DME Specific Peptides for BTN2A3P Gene
Domains & Families for BTN2A3P Gene
Gene Families for BTN2A3P Gene
- HGNC:
Protein Domains for BTN2A3P Gene
- InterPro:
- Blocks:
-
- Immunoglobulin V-type
- Butyrophylin C-terminal DUF signature
- SPRY-associated domain
- ProtoNet:
Suggested Antigen Peptide Sequences for BTN2A3P Gene
- GenScript: Design optimal peptide antigens:
-
- Butyrophilin subfamily 2 member A3 (BT2A3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96KV6- Family:
-
- Belongs to the immunoglobulin superfamily. BTN/MOG family.
Function for BTN2A3P Gene
Phenotypes From GWAS Catalog for BTN2A3P Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IBA | 21873635 |
Phenotypes for BTN2A3P Gene
- GenomeRNAi human phenotypes for BTN2A3P:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BTN2A3P - Select products 50% OFF >
- * BTN2A3P CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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- Browse CRISPR knockouts for BTN2A3P
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BTN2A3P
miRNA for BTN2A3P Gene
- miRTarBase miRNAs that target BTN2A3P
miRNA Products
Inhibitory RNA Products
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Clone Products
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No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTN2A3P Gene
Localization for BTN2A3P Gene
Subcellular locations from UniProtKB/Swiss-Prot for BTN2A3P Gene
- Membrane. Single-pass type I membrane protein.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0009897 | external side of plasma membrane | IBA | 21873635 |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for BTN2A3P Gene
Pathways & Interactions for BTN2A3P Gene
Interacting Proteins for BTN2A3P Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| RFPL4A |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001817 | regulation of cytokine production | IBA | 21873635 |
| GO:0050776 | regulation of immune response | IBA | 21873635 |
| GO:0050852 | T cell receptor signaling pathway | IBA | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for BTN2A3P Gene
Transcripts for BTN2A3P Gene
mRNA/cDNA for BTN2A3P Gene
- 1 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000465856 2483 nts (view in UCSC)
- ENST00000377662 1836 nts (view in UCSC)
- ENST00000466808 2559 nts (view in UCSC)
- ENST00000475151 579 nts (view in UCSC)
- ENST00000463944 533 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BTN2A3P - Select products 50% OFF >
- * BTN2A3P CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Browse CRISPR knockouts for BTN2A3P
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miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BTN2A3P
- Browse OriGene Inhibitory RNA Products For BTN2A3P
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Clone Products
- Applied Biological Materials (abm): Clones for BTN2A3P - Select products 50% OFF >
- * BTN2A3P as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BTN2A3P
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||
| SP2: |
Relevant External Links for BTN2A3P Gene
- GeneLoc Exon Structure for
- BTN2A3P
Expression for BTN2A3P Gene
This gene is overexpressed in Urine (47.5) and Adipocyte (21.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTN2A3P Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTN2A3P
SOURCE GeneReport for Unigene cluster for BTN2A3P Gene:
Hs.729655Primer Products
-
OriGene qPCR primer pairs for BTN2A3P
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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTN2A3P Gene
Orthologs for BTN2A3P Gene
No data available for Orthologs for BTN2A3P Gene
Paralogs for BTN2A3P Gene
(8) SIMAP similar genes for BTN2A3P Gene using alignment to 1 proteins:
- BT2A3_HUMAN
No data available for Paralogs for BTN2A3P Gene
Variants for BTN2A3P Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTN2A3P Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10946829 | - | p.Val148Ile | |||
| rs2893848 | - | p.Asn300Ser | |||
| rs7745238 | - | p.Gly79Asp |
| 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 |
| esv3890802 | CNV | loss | 25118596 |
| nsv1017824 | CNV | gain+loss | 25217958 |
| nsv1023453 | CNV | gain | 25217958 |
| nsv477034 | CNV | novel sequence insertion | 20440878 |
| nsv601184 | CNV | gain | 21841781 |
| nsv969358 | CNV | duplication | 23825009 |
Additional Variant Information for BTN2A3P Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- BTN2A3P
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) and Variation tolerance for BTN2A3P Gene
Disorders for BTN2A3P Gene
Additional Disease Information for BTN2A3P
No disorders were found for BTN2A3P Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN2A3P Gene
Publications for BTN2A3P Gene
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
- VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
- Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
- BTN1A1, the mammary gland butyrophilin, and BTN2A2 are both inhibitors of T cell activation. (PMID: 20208008) Smith IA … Trowsdale J (Journal of immunology (Baltimore, Md. : 1950) 2010) 3
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
ExternalLinks
Products for BTN2A3P Gene
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- Custom Assay Services
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Invitrogen Antibodies for BTN2A3P (AFLGC-BTN2A3P)
- VectorBuilder Custom and pre-made DNA vectors for BTN2A3P (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 11 available BTN2A3P Antibodies ranked by validation data
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTN2A3P
Sources for BTN2A3P 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
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- (33) SGD
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- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
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- (44) Atlas
- (45) GenBank
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- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
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- (83) Illumina
- (84) COMPARTMENTS
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- (90) CYP
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- (93) PathCards
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- (95) GeneTex
- (96) Taconic Biosciences
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- (104) diseasecard
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