BTN2A1 Gene
protein-coding GIFtS: 49
GCID: GC06P026458
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|
butyrophilin, subfamily 2, member A1
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Aliases
for BTN2A1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Butyrophilin, Subfamily 2, Member A11 2 | | DJ3E1.12 | | BTF11 2 3 5 | | Butyrophilin BTF12 | | BT2.11 2 3 | | Butyrophilin Subfamily 2 Member A12 | | BK14H9.12 | | |
Export aliases for BTN2A1 gene to outside databasesPrevious GC identifers: GC06P026515 GC06P026566 GC06P026400 |
Summaries
for BTN2A1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BTN2A1:
This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin proteinfamily. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expandingB7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is an integral plasmamembrane B box protein involved in lipid, fatty-acid and sterol metabolism. Multiple alternatively spliced transcriptvariants encoding different isoforms have been found for this gene. (provided by RefSeq, Oct 2010)
|
Genomic Views
for BTN2A1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BTN2A1 gene promoter:
Elk-1 p53 MyoD NF-kappaB POU2F1 POU2F1a NF-kappaB2 STAT3 MRF-2 NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for BTN2A1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTN2A1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p22.1 Ensembl cytogenetic band: 6p22.2 HGNC cytogenetic band: 6p22.1BTN2A1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P026458: view genomic region
(about GC identifiers)
Start:
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26,458,150 bp from pter |
End:
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26,476,849 bp from pter |
Size:
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18,700 bases |
Orientation:
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plus strand |
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Proteins
for BTN2A1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BT2A1_HUMAN, Q7KYR7 (See
protein sequence)Recommended Name: Butyrophilin subfamily 2 member A1 precursor Size: 527 amino acids; 59633 Da
Subcellular location: Membrane; Single-pass type I membrane protein (By similarity)
Sequence caution: Sequence=BAD93014.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;Sequence=CAB71221.2; Type=Erroneous gene model prediction;
Secondary accessions: B4DLP9 E9PGR4 O00475 P78408 Q59EN4 Q7KYQ7 Q7Z386 Q96AV7 Q9NU62Alternative splicing: 6 isoforms: Q7KYR7-2 Q7KYR7-1 Q7KYR7-3 Q7KYR7-4 Q7KYR7-5 Q7KYR7-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for BTN2A1: NX_Q7KYR7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7KYR7
BTN2A1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001184162.1 NP_001184163.1 NP_008980.1 NP_510961.1
ENSEMBL proteins: ENSP00000366825 ENSP00000312158 ENSP00000420447 ENSP00000416945 ENSP00000419043 ENSP00000418936 ENSP00000443909
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
BTN2A1 for ontologies About GeneDecksing
BTN2A1 Antibody Products:
Assay Products for BTN2A1: |
Protein
Domains /
Families
for BTN2A1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BTN2A1 for domains About GeneDecksing
5/11 InterPro domains/families (see all 11):Graphical View of Domain Structure for InterPro Entry Q7KYR7ProtoNet protein and cluster: Q7KYR7 4 Blocks protein families: IPB003599 Immunoglobulin subtype IPB003879 Butyrophylin C-terminal DUF signature IPB006574 SPRY-associated domain IPB013106 Immunoglobulin V-set
UniProtKB/Swiss-Prot: BT2A1_HUMAN, Q7KYR7Similarity: Belongs to the immunoglobulin superfamily. BTN/MOG familySimilarity: Contains 1 B30.2/SPRY domainSimilarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain |
Function
for BTN2A1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
Genatlas biochemistry entry for BTN2A1:butyrophilin subfamily 2,member A1,B box family of proteins,involved in cell proliferation and development
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTN2A1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTN2A1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
BTN2A1 for ontologies About GeneDecksing
|
Pathways & Interactions
for BTN2A1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTN2A1
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for BTN2A1 (ENSP000003121584) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
BTN2A1 for ontologies About GeneDecksing
|
Drugs & Compounds
for BTN2A1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BTN2A1
Search CenterWatch for drugs/clinical trials and news about BTN2A1 / BT2A1
|
Transcripts
for BTN2A1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BTN2A1 gene (4 alternative transcripts): NM_001197233.1 NM_001197234.1 NM_007049.3 NM_078476.2 Unigene Cluster for BTN2A1: Butyrophilin, subfamily 2, member A1 Hs.159028 [show with all ESTs]Unigene Representative Sequence: NM_0784767 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000377600 ENST00000312541(uc003nib.2 uc011dko.2) ENST00000493173
ENST00000429381(uc003nic.2) ENST00000469185(uc021yni.1) ENST00000480218
ENST00000541522
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BTN2A1 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTN2A1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AB209777.1 AK297098.1 BC016661.1 BX538050.1 U90543.1 16 DOTS entries: DT.95375241 DT.446295 DT.100692194 DT.100790812 DT.95375242 DT.121381100 DT.91765458 DT.102829783 DT.40259410 DT.91765465 DT.95375283 DT.91765463 DT.100790813 DT.70100240 DT.91765460 DT.75100617 24/174 AceView cDNA sequences (see all 174): AI184441 BC016661 AI886747 AW071540 BG236167 BM987427 AI625501 CR609907 AW007668 F03204 BX104737 AA704821 CA489625 CF529921 AA778831 AA026328 BX339691 CR592580 AK093886 NM_078476 CA442508 AV651052 BX100158 BQ723180
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for BTN2A1 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for BTN2A1
|
Expression
for BTN2A1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BTN2A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATAAGCCAA
About this image
See BTN2A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BTN2A1
SOURCE GeneReport for Unigene cluster: Hs.159028
UniProtKB/Swiss-Prot: BT2A1_HUMAN, Q7KYR7Tissue specificity: Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderateexpression was seen in lung, liver and kidney
SABiosciences Custom PCR Arrays for BTN2A1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BTN2A1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTN2A1 |
Orthologs
for BTN2A1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for BTN2A1 gene from 1/5 species (see all 5) About this table
ENSEMBL Gene Tree for BTN2A1 (if available)
TreeFam Gene Tree for BTN2A1 (if available) |
Paralogs
for BTN2A1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BTN2A1 gene
- BTN3A22 BTNL82 ERMAP2 BTN3A32 BTN2A22 HHLA22 CD2762 BTNL102
- MOG2 BTNL22 BTN3A12 VTCN12 BTN1A12 BTNL92 BTNL32
12 SIMAP similar genes for BTN2A1 using alignment to 4 protein entries: BT2A1_HUMAN (see all proteins):BTN2A2 BTN2A3P BTN3A2 BTN3A3 MOG BTNL10
BTNL2 BTN1A1 BTN3A1 BTNL9 BTNL3 BTNL8
BTN2A1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for BTN2A1
PGOHUM00000260151
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Genomic Variants
for BTN2A1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BTN2A1 (26458150 - 26476849 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BTN2A1: --
Human Gene Mutation Database (HGMD): BTN2A1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTN2A1 |
|
Disorders
/ Diseases
for BTN2A1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BTN2A1 for disorders About GeneDecksing
OMIM gene information: 613590
OMIM disorders: --
4  diseases for BTN2A1: About MalaCardsmyocardial infarction hemochromatosis kidney disease hypertension
Human Genome Epidemiology (HuGE) Navigator: BTN2A1 (1 document)
Export disorders for BTN2A1 gene to outside databases
|
Publications
for BTN2A1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BTN2A1 gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with BTN2A1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex. (PubMed id 9382921)1, 2, 3 Tazi-Ahnini R....Pontarotti P. (1997)
- A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PubMed id 9149941)1, 2, 3 Ruddy D.A.... Feder J.N. (1997)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
- The B7 homolog butyrophilin BTN2A1 is a novel ligand for DC-SIGN. (PubMed id 17785817)1, 9 Malcherek G....Trowsdale J. (2007)
- Synergistic effects of genetic variants of APOA5 and B TN2A1 on dyslipidemia or metabolic syndrome. (PubMed id 22576629)1 Hiramatsu M....Yamada Y. (2012)
- Association of a polymorphism of BTN2A1 with type 2 di abetes mellitus in Japanese individuals. (PubMed id 21672009)1 Hiramatsu M....Yamada Y. (2011)
- Association of polymorphisms of BTN2A1 and ILF3 with myocardial infarction in Japanese individuals with different lipid profiles. (PubMed id 21468600)1 Yoshida T....Yamada Y. (2011)
- Association of a polymorphism of BTN2A1 with myocardi al infarction in East Asian populations. (PubMed id 21211798)1 Yamada Y....Jang Y. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
|
External Searches for BTN2A1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BTN2A1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BTN2A1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BTN2A1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BTN2A1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for BTN2A1 gene:
Search GeneIP for patents involving BTN2A1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BTN2A1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTN2A1 |
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