BTNL2 (butyrophilin like 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56244
Gene name Gene Name - the full gene name approved by the HGNC.
Butyrophilin like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BTNL2
Synonyms (NCBI Gene) Gene synonyms aliases
BTL-II, BTN7, HSBLMHC1, SS2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606000 1142 ENSG00000204290
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (12)
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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Asthma Atopic asthma, Adult asthma, Asthma N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (37)
Associations from Text Mining Disease 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