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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Benign rs41395046 RCV005907713
Sarcoidosis, susceptibility to, 2 risk factor rs2076530 RCV000004912
Show/Hide Text Mining Associations (37)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27501781, 28025329
Alopecia Areata Associate 23326468
Arthritis Rheumatoid Associate 23460240, 34201265, 39351328
Asthma Associate 34871226
Autism Spectrum Disorder Associate 37407551
Autoimmune Diseases Associate 21682861, 26617759
Azoospermia Nonobstructive Associate 22541561
Cardiomyopathies Associate 26617759
Cardiomyopathy Dilated Associate 26617759
Cardiovascular Diseases Associate 34201265