Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11119
Gene name Gene Name - the full gene name approved by the HGNC.
Butyrophilin subfamily 3 member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BTN3A1
Synonyms (NCBI Gene) Gene synonyms aliases
BT3.1, BTF5, BTN3.1, CD277
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of hum
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019201 hsa-miR-335-5p Microarray 18185580
MIRT051029 hsa-miR-17-5p CLASH 23622248
MIRT050606 hsa-miR-20a-5p CLASH 23622248
MIRT043159 hsa-miR-324-5p CLASH 23622248
MIRT168281 hsa-miR-106b-5p HITS-CLIP 22473208
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
GO:0001819 Process Positive regulation of cytokine production IDA 21918970
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0005102 Function Signaling receptor binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613593 1138 ENSG00000026950
Protein
UniProt ID O00481
Protein name Butyrophilin subfamily 3 member A1 (CD antigen CD277)
Protein function Plays a role in T-cell activation and in the adaptive immune response. Regulates the proliferation of activated T-cells. Regulates the release of cytokines and IFNG by activated T-cells. Mediates the response of T-cells toward infected and trans
PDB 4F80 , 4F9L , 4F9P , 4JKW , 4K55 , 4N7I , 4N7U , 4V1P , 5HM7 , 5LYG , 5LYK , 5ZXK , 6ISM , 6ITA , 6J06 , 6XLQ , 8DFX , 8IXV , 8IZE , 8IZG , 8JYC , 8JYE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 35 144 Immunoglobulin V-set domain Domain
PF13765 PRY 342 390 SPRY-associated domain Family
PF00622 SPRY 394 505 SPRY domain Family
Tissue specificity TISSUE SPECIFICITY: Detected on T-cells, natural killer cells, dendritic cells and macrophages (at protein level). Ubiquitous. Highly expressed in heart, pancreas and lung, Moderately expressed in placenta, liver and muscle. {ECO:0000269|PubMed:20610803,
Sequence
MKMASFLAFLLLNFRVCLLLLQLLMPHSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSA
ETMELKWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASD
SGKYLCYFQDGDFYEKALVELKVA
ALGSDLHVDVKGYKDGGIHLECRSTGWYPQPQIQWS
NNKGENIPTVEAPVVADGVGLYAVAASVIMRGSSGEGVSCTIRSSLLGLEKTASISIADP
FFRSAQRWIAALAGTLPVLLLLLGGAGYFLWQQQEEKKTQFRKKKREQELREMAWSTMKQ
EQSTRVKLLEELRWRSIQYASRGERHSAYNEWKKALFKPADVILDPKTANPILLVSEDQR
SVQRAKEPQDLPDNPERFNWHYCVLGCESF
ISGRHYWEVEVGDRKEWHIGVCSKNVQRKG
WVKMTPENGFWTMGLTDGNKYRTLTEPRTNLKLPKPPKKVGVFLDYETGDISFYNAVDGS
HIHTFLDVSFSEALYPVFRILTLEP
TALTICPA
Sequence length 513
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Butyrophilin (BTN) family interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 34293829
Carcinoma Non Small Cell Lung Associate 34293829
Celiac Disease Associate 28934294
Colorectal Neoplasms Associate 36543375
COVID 19 Associate 36734721
Esophageal Squamous Cell Carcinoma Stimulate 36418890
Glioblastoma Associate 37770968
Glioma Associate 37770968
Lymphoma Associate 36096643
Melanoma Cutaneous Malignant Associate 36437242