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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 metabol... See more...
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 Butyrophilin (BTN) family interactions and Innate Immune System. An important paralog of this gene is BTN2A2.
Additional gene information for BTN2A1 Gene
- HGNC(1136)
- Entrez Gene(11120)
- Ensembl(ENSG00000112763)
- OMIM(613590)
- UniProtKB(Q7KYR7)
- Open Targets Platform(ENSG00000112763)
- Monarch Initiative
- Search for BTN2A1 at DataMed
- Search for BTN2A1 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTN2A1 Gene
Genomics for BTN2A1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BTN2A1 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 BTN2A1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTN2A1
- Top Transcription factor binding sites by QIAGEN in the BTN2A1 gene promoter:
-
- Elk-1
- MRF-2
- MyoD
- NF-kappaB
- NF-kappaB1
- NF-kappaB2
- p53
- POU2F1
- POU2F1a
- STAT3
Genomic Locations for BTN2A1 Gene
Genomic Locations for BTN2A1 Gene
- chr6:26,457,904-26,476,622
- (GRCh38/hg38)
- Size:
- 18,719 bases
- Orientation:
- Plus strand
- chr6:26,458,150-26,476,849
- (GRCh37/hg19)
- Size:
- 18,700 bases
- Orientation:
- Plus strand
Genomic View for BTN2A1 Gene
Genes around BTN2A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.2 by HGNC
- 6p22.2 by Entrez Gene
- 6p22.2 by Ensembl
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=Extended N-terminus.; 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
-
Custom Antibody ServicesOriGene Antibodies for BTN2A1
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-
Abcam antibodies for BTN2A1
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-
Boster Bio Antibodies for BTN2A1
Protein Products
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-
Abcam proteins for BTN2A1
Assay Products
- antibodies-online: Show 5 available BTN2A1 Elisa Kits ranked by validation data
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Quality Products:
-
Signalway ELISA kits for BTN2A1
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
- InterPro:
- Blocks:
-
- Immunoglobulin V-set
- Immunoglobulin subtype
- Butyrophylin C-terminal DUF signature
- SPRY-associated domain
- ProtoNet:
Suggested Antigen Peptide Sequences for BTN2A1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ55336, highly similar to Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA (B4DLP9_HUMAN)
- Butyrophilin subfamily 2 member A1 (BT2A1_HUMAN)
- Butyrophilin, subfamily 2, member A1 (Q9H459_HUMAN)
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 | -- |
| GO:0005102 | signaling receptor binding | IBA | 21873635 |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for BTN2A1 Gene
- GenomeRNAi human phenotypes for BTN2A1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BTN2A1 - Select products 50% OFF >
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miRNA for BTN2A1 Gene
- miRTarBase miRNAs that target BTN2A1
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for BTN2A1 - Select products 50% OFF >
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Cell Line Products
-
Horizon Cell Lines for BTN2A1
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 |
| endoplasmic reticulum | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| cytosol | 1 |
- 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:0009897 | external side of plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
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
Selected Interacting proteins:
Q7KYR7-BT2A1_HUMAN
ENSP00000312158
for BTN2A1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BTN2A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001817 | regulation of cytokine production | IBA | 21873635 |
| GO:0006629 | lipid metabolic process | TAS | 9382921 |
| GO:0050776 | regulation of immune response | IBA | 21873635 |
| GO:0050852 | T cell receptor signaling pathway | IBA | 21873635 |
No data available for SIGNOR curated interactions for BTN2A1 Gene
Transcripts for BTN2A1 Gene
mRNA/cDNA for BTN2A1 Gene
- 4 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000377600 3024 nts (view in UCSC)
- ENST00000312541 2890 nts (view in UCSC)
- ENST00000493173 551 nts (view in UCSC)
- ENST00000429381 3113 nts (view in UCSC)
- ENST00000469185 1687 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BTN2A1 - Select products 50% OFF >
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for BTN2A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BTN2A1
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Clone Products
- Applied Biological Materials (abm): Clones for BTN2A1 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for BTN2A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BTN2A1
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||
| SP2: | - | ||||||||||||||||||
| SP3: | - | ||||||||||||||||||
| SP4: |
Relevant External Links for BTN2A1 Gene
- GeneLoc Exon Structure for
- BTN2A1
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTN2A1
SOURCE 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(4.6)
- Intestine(4.4)
- Spleen(2.2)
- Skin(2.1)
Primer Products
-
OriGene qPCR primer pairs for BTN2A1
-
OriGene qPCR primer pairs and template standards for BTN2A1
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 30 |
|
||
| -- 31 |
|
ManyToMany | |||
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| Mouse (Mus musculus) |
Mammalia | Btn2a2 31 |
|
OneToMany | |
| Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485231 30 |
|
- Species where no ortholog for BTN2A1 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)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Evolution for BTN2A1 Gene
- ENSEMBL:
- Gene Tree for BTN2A1 (if available)
- TreeFam:
- Gene Tree for BTN2A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BTN2A1: view image
Paralogs for BTN2A1 Gene
Paralogs for BTN2A1 Gene
(12) SIMAP similar genes for BTN2A1 Gene using alignment to 4 proteins:
- BT2A1_HUMAN
- C9JNC3_HUMAN
- H7BYC3_HUMAN
- H7C542_HUMAN
Pseudogenes.org Pseudogenes for BTN2A1 Gene
Variants for BTN2A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTN2A1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 785160 | Benign: not provided | 26,467,973(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| rs13195401 | - | p.Trp178Leu | |||
| rs13195402 | - | p.Trp178Cys | |||
| rs13195509 | - | p.Val207Met | |||
| rs3734539 | - | p.Arg124Cys |
| 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
- Open Targets Platform
No disorders were found for BTN2A1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTN2A1 Gene
Publications for BTN2A1 Gene
- 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
- A 1.1-Mb transcript map of the hereditary hemochromatosis locus. (PMID: 9149941) Ruddy DA … Feder JN (Genome research 1997) 2 3 4
- 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 23
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 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 BTN2A1 Gene
- Custom Antibody ServicesOriGene Antibodies for BTN2A1
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- Boster Bio Antibodies for BTN2A1
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Sources for BTN2A1 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
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (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
- (59) ProSpec
- (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
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
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