Gene Gene information from NCBI Gene database.
Entrez ID 10385
Gene name Butyrophilin subfamily 2 member A2
Gene symbol BTN2A2
Synonyms (NCBI Gene)
BT2.2BTF2BTN2.2
Chromosome 6
Chromosome location 6p22.2
Summary Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consist
miRNA miRNA information provided by mirtarbase database.
84
miRTarBase ID miRNA Experiments Reference
MIRT437530 hsa-miR-19b-3p Immunoprecipitaion 22382630
MIRT572501 hsa-miR-4512 PAR-CLIP 20371350
MIRT572500 hsa-miR-3918 PAR-CLIP 20371350
MIRT572498 hsa-miR-4685-5p PAR-CLIP 20371350
MIRT572499 hsa-miR-6837-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0001817 Process Regulation of cytokine production IBA
GO:0001818 Process Negative regulation of cytokine production IEA
GO:0001818 Process Negative regulation of cytokine production ISS
GO:0005102 Function Signaling receptor binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613591 1137 ENSG00000124508
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WVV5
Protein name Butyrophilin subfamily 2 member A2
Protein function Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion.
PDB 8IH4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 38 147 Immunoglobulin V-set domain Domain
PF13765 PRY 329 377 SPRY-associated domain Family
PF00622 SPRY 381 497 SPRY domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderate expression was seen in lung, liver and kidney. {ECO:0000269|PubMed:9149941}.
Sequence
MEPAAALHFSLPASLLLLLLLLLLSLCALVSAQFTVVGPANPILAMVGENTTLRCHLSPE
KNAEDMEVRWFRSQFSPAVFVYKGGRERTEEQMEEYRGRITFVSKDINRGSVALVIHNVT
AQENGIYRCYFQEGRSYDEAILRLVVA
GLGSKPLIEIKAQEDGSIWLECISGGWYPEPLT
VWRDPYGEVVPALKEVSIADADGLFMVTTAVIIRDKYVRNVSCSVNNTLLGQEKETVIFI
PESFMPSASPWMVALAVILTASPWMVSMTVILAVFIIFMAVSICCIKKLQREKKILSGEK
KVEQEEKEIAQQLQEELRWRRTFLHAADVVLDPDTAHPELFLSEDRRSVRRGPYRQRVPD
NPERFDSQPCVLGWESF
ASGKHYWEVEVENVMVWTVGVCRHSVERKGEVLLIPQNGFWTL
EMFGNQYRALSSPERILPLKESLCRVGVFLDYEAGDVSFYNMRDRSHIYTCPRSAFTVPV
RPFFRLGSDDSPIFICP
ALTGASGVMVPEEGLKLHRVGTHQSL
Sequence length 523
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Butyrophilin (BTN) family interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BTN2A2-related disorder Uncertain significance; Likely benign; Benign rs149403458, rs140196606, rs377607368, rs552051206, rs1614887, rs142227365, rs2072803, rs62617839, rs115247877, rs143694906, rs144410497, rs143017993, rs776923192, rs111615265, rs148562624
View all (5 more)
RCV003936684
RCV003928929
RCV003907099
RCV003981655
RCV003974696
RCV003906975
RCV003979866
RCV003973997
RCV003974045
RCV003944121
RCV003959729
RCV003944499
RCV003931370
RCV003907371
RCV003926802
RCV003956755
RCV003979150
RCV003968969
RCV003926089
RCV003905863
Sarcoma Likely benign rs377607368 RCV005936858
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 27898717
Glioma Associate 37851374
Neoplasms Associate 29606096
Neoplasms Stimulate 37851374