Gene Gene information from NCBI Gene database.
Entrez ID 10384
Gene name Butyrophilin subfamily 3 member A3
Gene symbol BTN3A3
Synonyms (NCBI Gene)
BTF3BTN3.3
Chromosome 6
Chromosome location 6p22.2
Summary 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.
204
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613595 1140 ENSG00000111801
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 17312387
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31377428 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 17312387, 29296524
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27898717 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 22694310
★☆☆☆☆
Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor Teratoid Rhabdoid Tumor BEFREE 29018304
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30315845, 30858559
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 17312387 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma BEFREE 30858559
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 30655745
★☆☆☆☆
Found in Text Mining only