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
- GC06P026437
- GC06P026509
- GC06P026809
- GC06P026911
- GC06P027011
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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTN2A3P Gene
Genomics for BTN2A3P Gene
GeneHancer (GH) Regulatory Elements for BTN2A3P Gene
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 UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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 Entrez Gene
- 6p22.2 by HGNC
- 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
- SequenceCaution:
-
- Sequence=CAC69644.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for BTN2A3P Gene
Post-translational modifications for BTN2A3P Gene
Antibody Products
-
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-
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Assay Products
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
Suggested Antigen Peptide Sequences for BTN2A3P Gene
- GenScript: Design optimal peptide antigens:
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 | -- |
Phenotypes for BTN2A3P Gene
- GenomeRNAi human phenotypes for BTN2A3P:
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-
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miRNA for BTN2A3P Gene
- miRTarBase miRNAs that target BTN2A3P
miRNA Products
Inhibitory RNA 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 | -- |
| 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
No Data Available
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 | -- |
| GO:0050776 | regulation of immune response | IBA | -- |
| GO:0050852 | T cell receptor signaling pathway | IBA | -- |
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 :
- (4) Additional mRNA sequences :
- (14) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000465856 2483 bps
- ENST00000377662 1836 bps
- ENST00000466808 2559 bps
- ENST00000475151 579 bps
- ENST00000463944 533 bps
Unigene Clusters for BTN2A3P Gene
CRISPR Products
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Clone Products
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| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||
| SP2: |
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
NURSA nuclear receptor signaling pathways regulating expression of BTN2A3P Gene:
BTN2A3PSOURCE 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
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000520490 | -- | 26,422,407(+) | T/A | intron_variant | |
| rs1000539073 | -- | 26,426,023(+) | C/T | intron_variant | |
| rs1000590007 | -- | 26,425,595(+) | G/T | intron_variant | |
| rs1000744464 | -- | 26,429,077(+) | C/T | intron_variant | |
| rs1000976106 | -- | 26,422,758(+) | C/G | intron_variant |
| 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 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 58
- 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 58
- 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 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
Products for BTN2A3P Gene
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Sources for BTN2A3P Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
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- (18) KEGG
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
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