Aliases for BTN2A1 Gene
Aliases for BTN2A1 Gene
External Ids for BTN2A1 Gene
- HGNC: 1136
- Entrez Gene: 11120
- Ensembl: ENSG00000112763
- OMIM: 613590
- UniProtKB: Q7KYR7
Previous GeneCards Identifiers for BTN2A1 Gene
- GC06P026515
- GC06P026566
- GC06P026458
- GC06P026400
Summaries for BTN2A1 Gene
-
This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
GeneCards Summary for BTN2A1 Gene
BTN2A1 (Butyrophilin Subfamily 2 Member A1) is a Protein Coding gene. Among its related pathways are Innate Immune System and Butyrophilin (BTN) family interactions. An important paralog of this gene is BTN2A2.
Additional gene information for BTN2A1 Gene
- Monarch Initiative
- Search for BTN2A1 at DataMed
- Search for BTN2A1 at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTN2A1 Gene
Genomics for BTN2A1 Gene
GeneHancer (GH) Regulatory Elements for BTN2A1 Gene
Promoters and enhancers for BTN2A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BTN2A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BTN2A1 gene promoter:
Regulatory Element Products
Genomic Locations for BTN2A1 Gene
Genomic Locations for BTN2A1 Gene
- chr6:26,457,904-26,476,621
- (GRCh38/hg38)
- Size:
- 18,718 bases
- Orientation:
- Plus strand
- chr6:26,458,150-26,476,849
- (GRCh37/hg19)
Genomic View for BTN2A1 Gene
Genes around BTN2A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by Ensembl
- 6p22.2 by Entrez Gene
- 6p22.2 by HGNC
BTN2A1 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 BTN2A1 Gene
Proteins for BTN2A1 Gene
-
Protein details for BTN2A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7KYR7-BT2A1_HUMAN
- Recommended name:
- Butyrophilin subfamily 2 member A1
- Protein Accession:
- Q7KYR7
- B4DLP9
- E9PGR4
- O00475
- P78408
- Q59EN4
- Q7KYQ7
- Q7Z386
- Q96AV7
- Q9NU62
Protein attributes for BTN2A1 Gene
- Size:
- 527 amino acids
- Molecular mass:
- 59633 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAD93014.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB71221.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for BTN2A1 Gene
Post-translational modifications for BTN2A1 Gene
Other Protein References for BTN2A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Protein Products
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-
Abcam proteins for BTN2A1
Assay Products
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No data available for DME Specific Peptides for BTN2A1 Gene
Domains & Families for BTN2A1 Gene
Gene Families for BTN2A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for BTN2A1 Gene
Suggested Antigen Peptide Sequences for BTN2A1 Gene
Graphical View of Domain Structure for InterPro Entry
Q7KYR7- Family:
-
- Belongs to the immunoglobulin superfamily. BTN/MOG family.
Function for BTN2A1 Gene
Molecular function for BTN2A1 Gene
- GENATLAS Biochemistry:
- butyrophilin subfamily 2,member A1,B box family of proteins,involved in cell proliferation and development
Phenotypes From GWAS Catalog for BTN2A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
Phenotypes for BTN2A1 Gene
- GenomeRNAi human phenotypes for BTN2A1:
Animal Model Products
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miRNA for BTN2A1 Gene
- miRTarBase miRNAs that target BTN2A1
miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for BTN2A1
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Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTN2A1 Gene
Localization for BTN2A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BTN2A1 Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 2 |
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 9382921 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0070062 | extracellular exosome | IDA,HDA | 23376485 |
Pathways & Interactions for BTN2A1 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 BTN2A1 Gene
3 Reactome pathways for BTN2A1 Gene
Interacting Proteins for BTN2A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | TAS | 9382921 |
No data available for SIGNOR curated interactions for BTN2A1 Gene
Transcripts for BTN2A1 Gene
mRNA/cDNA for BTN2A1 Gene
- (4) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (174) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for BTN2A1 Gene
CRISPR Products
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTN2A1
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miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for BTN2A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for BTN2A1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||
| SP2: | - | ||||||||||||||||||
| SP3: | - | ||||||||||||||||||
| SP4: |
Expression for BTN2A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
This gene is overexpressed in Breast (46.3) and Cerebrospinal fluid (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTN2A1 Gene
NURSA nuclear receptor signaling pathways regulating expression of BTN2A1 Gene:
BTN2A1SOURCE GeneReport for Unigene cluster for BTN2A1 Gene:
Hs.159028mRNA Expression by UniProt/SwissProt for BTN2A1 Gene:
Q7KYR7-BT2A1_HUMAN
Tissue specificity:
Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderate expression was seen in lung, liver and kidney.
Evidence on tissue expression from TISSUES for BTN2A1 Gene
- Nervous system(4.5)
- Intestine(4.3)
Primer Products
-
OriGene qPCR primer pairs and template standards for BTN2A1
-
OriGene qPCR primer pairs for BTN2A1
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Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTN2A1 Gene
Orthologs for BTN2A1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BTN2A1 33 |
|
||
| -- 34 |
|
ManyToMany | |||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Btn2a2 34 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100485231 33 |
|
- Species where no ortholog for BTN2A1 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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for BTN2A1 Gene
Paralogs for BTN2A1 Gene
(12) SIMAP similar genes for BTN2A1 Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for BTN2A1 Gene
Variants for BTN2A1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000091952 | -- | 26,474,829(+) | A/G | genic_downstream_transcript_variant, intron_variant | |
| rs1000478944 | -- | 26,467,544(+) | T/G | intron_variant | |
| rs1000567954 | -- | 26,474,551(+) | C/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000602351 | -- | 26,469,706(+) | T/C | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant | |
| rs1000695357 | -- | 26,457,568(+) | T/C | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv5927n100 | CNV | gain | 25217958 |
| dgv5928n100 | CNV | loss | 25217958 |
| esv2763996 | CNV | gain | 21179565 |
| esv3576106 | CNV | gain | 25503493 |
| nsv1017824 | CNV | gain+loss | 25217958 |
| nsv1023453 | CNV | gain | 25217958 |
| nsv1031938 | CNV | loss | 25217958 |
| nsv528172 | CNV | loss | 19592680 |
| nsv601185 | CNV | loss | 21841781 |
| nsv965689 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
92.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.29;
76.48% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BTN2A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTN2A1 Gene
Disorders for BTN2A1 Gene
Additional Disease Information for BTN2A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for BTN2A1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN2A1 Gene
Publications for BTN2A1 Gene
- A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy DA … Feder JN (Genome research 1997) 2 3 4 58
- Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex. (PMID: 9382921) Tazi-Ahnini R … Pontarotti P (Immunogenetics 1997) 2 3 4 58
- The B7 homolog butyrophilin BTN2A1 is a novel ligand for DC-SIGN. (PMID: 17785817) Malcherek G … Trowsdale J (Journal of immunology (Baltimore, Md. : 1950) 2007) 3 22 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
Products for BTN2A1 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 58 available BTN2A1 Antibodies ranked by validation data
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Sources for BTN2A1 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
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (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.
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