BTNL2 (butyrophilin like 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 56244
Gene name Butyrophilin like 2
Gene symbol BTNL2
Synonyms (NCBI Gene)
BTL-IIBTN7HSBLMHC1SS2
Chromosome 6
Chromosome location 6p21.32
Summary This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0001817 Process Regulation of cytokine production IBA
GO:0005102 Function Signaling receptor binding IBA
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606000 1142 ENSG00000204290
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UIR0
Protein name Butyrophilin-like protein 2 (BTL-II)
Protein function Negative regulator of T-cell proliferation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 33 → 142 Immunoglobulin V-set domain Domain
PF07686 V-set 250 → 359 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, pancreas, ovary, leukocyte, small intestine, testis and thymus. {ECO:0000269|PubMed:15735647}.
Sequence 
MVDFPGYNLSGAVASFLFILLTMKQSEDFRVIGPAHPILAGVGEDALLTCQLLPKRTTMH
VEVRWYRSEPSTPVFVHRDGVEVTEMQMEEYRGWVEWIENGIAKGNVALKIHNIQPSDNG
QYWCHFQDGNYCGETSLLLKVAGLGSAPSIHMEGPGESGVQLVCTARGWFPEPQVYWEDI
RGEKLLAVSEHRIQDKDGLFYAEATLVVRNASAESVSCLVHNPVLTEEKGSVISLPEKLQ
TELASLKVNGPSQPILVRVGEDIQLTCYLSPKANAQSMEVRWDRSHRYPAVHVYMDGDHV
AGEQMAEYRGRTVLVSDAIDEGRLTLQILSARPSDDGQYRCLFEKDDVYQEASLDLKVVS
LGSSPLITVEGQEDGEMQPMCSSDGWFPQPHVPWRDMEGKTIPSSSQALTQGSHGLFHVQ
TLLRVTNISAVDVTCSISIPFLGEEKIATFSLSGW
Sequence length 455
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Butyrophilin (BTN) family interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (37)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (136)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 22797724
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 22797724, 27501781
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27501781, 28025329
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 23460240, 34201265, 39351328 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 27611488
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 34871226 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder Autism Pubtator 37407551 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 16690410, 16984233, 26617759, 27532663
★★★★★
★☆☆☆☆
Found in Text Mining only