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BTN2A1 (butyrophilin subfamily 2 member A1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11120
Gene nameGene Name - the full gene name approved by the HGNC.
Butyrophilin subfamily 2 member A1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BTN2A1
SynonymsGene synonyms aliases
BK14H9.1, BT2.1, BTF1, BTN2.1, DJ3E1.1
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.2
SummarySummary of gene provided in NCBI Entrez 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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017744 hsa-miR-335-5p Microarray 18185580
MIRT027591 hsa-miR-98-5p Microarray 19088304
MIRT827313 hsa-miR-1245b-5p CLIP-seq
MIRT827314 hsa-miR-214 CLIP-seq
MIRT827315 hsa-miR-3142 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001817 Process Regulation of cytokine production IBA 21873635
GO:0003674 Function Molecular_function ND
GO:0005102 Function Signaling receptor binding IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS 9382921
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q7KYR7
Protein name Butyrophilin subfamily 2 member A1
PDB 8DFW , 8DFX , 8DFY , 8JYC , 8JYE , 8VC7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set
34 143
Immunoglobulin V-set domain
Domain
PF13765 PRY
330 381
SPRY-associated domain
Family
PF00622 SPRY
385 500
SPRY domain
Family
Sequence
MESAAALHFSRPASLLLLLLSLCALVSAQFIVVGPTDPILATVGENTTLRCHLSPEKNAE
DMEVRWFRSQFSPAVFVYKGGRERTEEQMEEYRGRTTFVSKDISRGSVALVIHNITAQEN
GTYRCYFQEGRSYDEAILHLVVA
GLGSKPLISMRGHEDGGIRLECISRGWYPKPLTVWRD
PYGGVAPALKEVSMPDADGLFMVTTAVIIRDKSVRNMSCSINNTLLGQKKESVIFIPESF
MPSVSPCAVALPIIVVILMIPIAVCIYWINKLQKEKKILSGEKEFERETREIALKELEKE
RVQKEEELQVKEKLQEELRWRRTFLHAVDVVLDPDTAHPDLFLSEDRRSVRRCPFRHLGE
SVPDNPERFDSQPCVLGRESF
ASGKHYWEVEVENVIEWTVGVCRDSVERKGEVLLIPQNG
FWTLEMHKGQYRAVSSPDRILPLKESLCRVGVFLDYEAGDVSFYNMRDRSHIYTCPRSAF
SVPVRPFFRLGCEDSPIFIC
PALTGANGVTVPEEGLTLHRVGTHQSL
Sequence length 527
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Butyrophilin (BTN) family interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Lung carcinoma Carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 28604730
Myocardial infarction Myocardial Infarction rs12316150, rs41303970, rs909253, rs7291467, rs2234693 21211798
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 28540026
Unknown
Disease name Disease term dbSNP ID References
Development disorder Child Development Disorders, Pervasive 28540026
Gastroesophageal reflux disease Gastroesophageal reflux disease 31527586
Lupus erythematosus Lupus Erythematosus, Systemic 24871463
Mental depression Major Depressive Disorder rs587778876, rs587778877 29942085

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