Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10384
Gene name Gene Name - the full gene name approved by the HGNC.
Butyrophilin subfamily 3 member A3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BTN3A3
Synonyms (NCBI Gene) Gene synonyms aliases
BTF3, BTN3.3
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
MIRT018863 hsa-miR-335-5p Microarray 18185580
MIRT020447 hsa-miR-106b-5p Microarray 17242205
MIRT030012 hsa-miR-26b-5p Microarray 19088304
MIRT039804 hsa-miR-615-3p CLASH 23622248
MIRT572227 hsa-miR-219a-2-3p PAR-CLIP 20371350
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:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002456 Process T cell mediated immunity IMP 22767497
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
613595 1140 ENSG00000111801
Protein
UniProt ID O00478
Protein name Butyrophilin subfamily 3 member A3
Protein function Plays a role in T-cell responses in the adaptive immune response.
PDB 4F8T , 5ZZ3 , 6J0G , 6J0K , 6J0L
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 394 506 SPRY domain Family
Tissue specificity TISSUE SPECIFICITY: Detected in peripheral blood mononuclear cells and in T-cells (at protein level). Detected in spleen and lymphocytes. {ECO:0000269|PubMed:20610803}.
Sequence
MKMASSLAFLLLNFHVSLFLVQLLTPCSAQFSVLGPSGPILAMVGEDADLPCHLFPTMSA
ETMELRWVSSSLRQVVNVYADGKEVEDRQSAPYRGRTSILRDGITAGKAALRIHNVTASD
SGKYLCYFQDGDFYEKALVELKVA
ALGSDLHIEVKGYEDGGIHLECRSTGWYPQPQIKWS
DTKGENIPAVEAPVVADGVGLYAVAASVIMRGSSGGGVSCIIRNSLLGLEKTASISIADP
FFRSAQPWIAALAGTLPISLLLLAGASYFLWRQQKEKIALSRETEREREMKEMGYAATEQ
EISLREKLQEELKWRKIQYMARGEKSLAYHEWKMALFKPADVILDPDTANAILLVSEDQR
SVQRAEEPRDLPDNPERFEWRYCVLGCENF
TSGRHYWEVEVGDRKEWHIGVCSKNVERKK
GWVKMTPENGYWTMGLTDGNKYRALTEPRTNLKLPEPPRKVGIFLDYETGEISFYNATDG
SHIYTFPHASFSEPLYPVFRILTLEP
TALTICPIPKEVESSPDPDLVPDHSLETPLTPGL
ANESGEPQAEVTSLLLPAHPGAEVSPSATTNQNHKLQARTEALY
Sequence length 584
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Butyrophilin (BTN) family interactions
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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
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 27898717
Disease Associate 25243493
Mental Disorders Associate 25243493
Neoplasms Associate 20111712
Oral Ulcer Associate 37369724
Ovarian Neoplasms Associate 20111712
Psychotic Disorders Associate 25243493
Schizophrenia Associate 37418754
Squamous Cell Carcinoma of Head and Neck Associate 33101298