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Aliases for BTNL2 Gene

Aliases for BTNL2 Gene

  • Butyrophilin Like 2 2 3 5
  • Butyrophilin-Like 2 (MHC Class II Associated) 2 3
  • BTL-II 3 4
  • Butyrophilin-Like Protein 2 3
  • Butyrophilin-Like 2 2
  • Truncated BTNL2 3
  • HSBLMHC1 3
  • BTN7 3
  • SS2 3

External Ids for BTNL2 Gene

Previous GeneCards Identifiers for BTNL2 Gene

  • GC06M032389
  • GC06M032133
  • GC06M032433
  • GC06M032470

Summaries for BTNL2 Gene

Entrez Gene Summary for BTNL2 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 regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]

GeneCards Summary for BTNL2 Gene

BTNL2 (Butyrophilin Like 2) is a Protein Coding gene. Diseases associated with BTNL2 include Sarcoidosis 2 and Sarcoidosis 1. Among its related pathways are Innate Immune System and Butyrophilin (BTN) family interactions. Gene Ontology (GO) annotations related to this gene include receptor binding. An important paralog of this gene is BTN1A1.

UniProtKB/Swiss-Prot for BTNL2 Gene

  • Negative regulator of T-cell proliferation.

Gene Wiki entry for BTNL2 Gene

Additional gene information for BTNL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTNL2 Gene

Genomics for BTNL2 Gene

GeneHancer (GH) Regulatory Elements for BTNL2 Gene

Promoters and enhancers for BTNL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I032369 Promoter/Enhancer 1.2 EPDnew ENCODE 5.4 +38.1 38090 2.6 JUN CEBPB EP300 RAD21 RFX5 MAFF JUND POLR2A STAT3 RCOR1 C6orf10 HLA-DRB1 HLA-DRB6 HLA-DQA2 RNF5 C4A HLA-DRB5 HLA-DQB2 LOC101929163 ATF6B
GH06I032411 Enhancer 0.5 ENCODE 4.9 -3.1 -3061 1.5 PRDM6 BCL11A SCRT2 FEZF1 HLA-DRB6 HLA-DQA2 C4A HCG23 HLA-DRB1 HLA-DRB5 BTNL2 HLA-DRA
GH06I032435 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.3 -30.6 -30559 7.5 HDGF PKNOX1 ATF1 SMAD1 RB1 BMI1 BATF KLF5 IRF4 RFX5 HLA-DRA HLA-DRB1 HLA-DQB1 HLA-DRB5 HLA-DQA2 HLA-DRB6 C4A HLA-DQA1 HLA-DQB1-AS1 PSMB8
GH06I032413 Enhancer 0.8 ENCODE 0.8 -4.8 -4760 0.2 ELF3 RB1 ZNF2 IRF4 ZNF48 ZSCAN9 RAD21 RFX5 CHAMP1 ZNF335 DDX39B HLA-DQA2 HLA-DRB5 ATF6B BRD2 LY6G5B WDR46 VPS52 RXRB SKIV2L
GH06I032415 Enhancer 1 Ensembl ENCODE 0.4 -6.8 -6837 0.6 RB1 BMI1 ZNF2 KLF5 ZSCAN9 RAD21 RFX5 ZNF335 ZNF366 ZNF143 HLA-DRB1 C4A TAP1 PSMB9 LOC105375022 MICB BTNL2 HLA-DRA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTNL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTNL2 gene promoter:

Genomic Locations for BTNL2 Gene

Genomic Locations for BTNL2 Gene
chr6:32,393,339-32,408,879
(GRCh38/hg38)
Size:
15,541 bases
Orientation:
Minus strand
chr6:32,361,740-32,374,905
(GRCh37/hg19)

Genomic View for BTNL2 Gene

Genes around BTNL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTNL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTNL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for BTNL2 Gene

  • Protein details for BTNL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIR0-BTNL2_HUMAN
    Recommended name:
    Butyrophilin-like protein 2
    Protein Accession:
    Q9UIR0
    Secondary Accessions:
    • A0PJV5
    • B0UYW9
    • B0V0N6
    • O98261
    • Q08E96
    • Q58R22
    • Q58R23
    • Q5JYF9
    • Q5MP42
    • Q5MP43
    • Q5RIF8
    • Q5SP08
    • Q5SP09
    • Q5SRW3
    • Q5SRW4
    • Q5SU36
    • Q95HK0

    Protein attributes for BTNL2 Gene

    Size:
    455 amino acids
    Molecular mass:
    50436 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BTNL2 Gene

neXtProt entry for BTNL2 Gene

Post-translational modifications for BTNL2 Gene

  • Glycosylation at posLast=210210 and posLast=427427

Other Protein References for BTNL2 Gene

No data available for DME Specific Peptides for BTNL2 Gene

Domains & Families for BTNL2 Gene

Gene Families for BTNL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q9UIR0

UniProtKB/Swiss-Prot:

BTNL2_HUMAN :
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
Family:
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
genes like me logo Genes that share domains with BTNL2: view

Function for BTNL2 Gene

Molecular function for BTNL2 Gene

GENATLAS Biochemistry:
butyrophilin-like 7,B box family of proteins,involved in cell proliferation and development
UniProtKB/Swiss-Prot Function:
Negative regulator of T-cell proliferation.
UniProtKB/Swiss-Prot Induction:
By proinflammatory cytokines such as TNF and IL1B/interleukin-1 beta.

Phenotypes From GWAS Catalog for BTNL2 Gene

genes like me logo Genes that share phenotypes with BTNL2: view

Human Phenotype Ontology for BTNL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

  • R&D Systems cDNA Clones for BTNL2 (BTNL2/Butyrophilin-like 2)

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BTNL2 Gene

Localization for BTNL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTNL2 Gene

Membrane; Single-pass type II membrane protein. Note=Isoform 2 is present in the nuclear, vesicle and plasma membranes, isoform 3 is found in cytoplasmic vesicle structures and is not membrane bound.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTNL2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BTNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BTNL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTNL2 Gene

Pathways & Interactions for BTNL2 Gene

genes like me logo Genes that share pathways with BTNL2: view

Pathways by source for BTNL2 Gene

Gene Ontology (GO) - Biological Process for BTNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042102 positive regulation of T cell proliferation IEA --
GO:0050860 negative regulation of T cell receptor signaling pathway IEA --
GO:1900042 positive regulation of interleukin-2 secretion IEA --
genes like me logo Genes that share ontologies with BTNL2: view

No data available for SIGNOR curated interactions for BTNL2 Gene

Drugs & Compounds for BTNL2 Gene

No Compound Related Data Available

Transcripts for BTNL2 Gene

mRNA/cDNA for BTNL2 Gene

(3) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

  • R&D Systems cDNA Clones for BTNL2 (BTNL2/Butyrophilin-like 2)

Alternative Splicing Database (ASD) splice patterns (SP) for BTNL2 Gene

No ASD Table

Relevant External Links for BTNL2 Gene

GeneLoc Exon Structure for
BTNL2
ECgene alternative splicing isoforms for
BTNL2

Expression for BTNL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTNL2 Gene

Protein differential expression in normal tissues from HIPED for BTNL2 Gene

This gene is overexpressed in Plasma (59.3) and Adipocyte (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTNL2 Gene



Protein tissue co-expression partners for BTNL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BTNL2 Gene:

BTNL2

SOURCE GeneReport for Unigene cluster for BTNL2 Gene:

Hs.534471

mRNA Expression by UniProt/SwissProt for BTNL2 Gene:

Q9UIR0-BTNL2_HUMAN
Tissue specificity: Expressed in brain, heart, kidney, liver, pancreas, ovary, leukocyte, small intestine, testis and thymus.

Evidence on tissue expression from TISSUES for BTNL2 Gene

  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BTNL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • jaw
  • lacrimal apparatus
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nervous system
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BTNL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BTNL2 Gene

Orthologs for BTNL2 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BTNL2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia BTNL2 33 34
  • 81.82 (n)
cow
(Bos Taurus)
Mammalia BTNL2 33 34
  • 80.43 (n)
-- 34
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Btnl2 33
  • 75.22 (n)
mouse
(Mus musculus)
Mammalia Btnl2 33 16 34
  • 74.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 42 (a)
OneToMany
-- 34
  • 41 (a)
OneToMany
-- 34
  • 39 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
-- 34
  • 37 (a)
OneToMany
-- 34
  • 35 (a)
OneToMany
-- 34
  • 34 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
-- 34
  • 32 (a)
OneToMany
-- 34
  • 32 (a)
OneToMany
-- 34
  • 32 (a)
OneToMany
-- 34
  • 28 (a)
OneToMany
-- 34
  • 22 (a)
OneToMany
-- 34
  • 22 (a)
OneToMany
-- 34
  • 22 (a)
OneToMany
-- 34
  • 21 (a)
OneToMany
-- 34
  • 19 (a)
OneToMany
-- 34
  • 18 (a)
OneToMany
-- 34
  • 17 (a)
OneToMany
-- 34
  • 16 (a)
OneToMany
-- 34
  • 15 (a)
OneToMany
-- 34
  • 14 (a)
OneToMany
-- 34
  • 14 (a)
OneToMany
-- 34
  • 13 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia BTNL2 34
  • 27 (a)
OneToOne
Species where no ortholog for BTNL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BTNL2 Gene

ENSEMBL:
Gene Tree for BTNL2 (if available)
TreeFam:
Gene Tree for BTNL2 (if available)

Paralogs for BTNL2 Gene

Paralogs for BTNL2 Gene

Pseudogenes.org Pseudogenes for BTNL2 Gene

genes like me logo Genes that share paralogs with BTNL2: view

Variants for BTNL2 Gene

Sequence variations from dbSNP and Humsavar for BTNL2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs2076530 risk-factor, Sarcoidosis 2 32,396,039(-) T/C coding_sequence_variant, missense_variant
rs1000273906 -- 32,394,946(-) C/T coding_sequence_variant, stop_gained
rs1000304271 -- 32,396,660(-) C/T intron_variant
rs1000913980 -- 32,405,171(-) C/T coding_sequence_variant, stop_gained
rs1001009345 -- 32,399,166(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BTNL2 Gene

Variant ID Type Subtype PubMed ID
nsv830630 CNV loss 17160897
nsv7882 CNV loss 18304495
nsv428142 CNV gain+loss 18775914
nsv1126749 CNV deletion 24896259
nsv1112900 CNV deletion 24896259
nsv1073969 CNV deletion 25765185
esv3570971 CNV loss 25503493
esv3570970 CNV loss 25503493
esv3570969 CNV loss 25503493
esv33644 CNV loss 17666407
esv2759416 CNV gain+loss 17122850
esv2731830 CNV deletion 23290073
dgv1755e212 CNV loss 25503493
dgv10472n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv1012n67 CNV loss 20364138
dgv1011n67 CNV loss 20364138

Variation tolerance for BTNL2 Gene

Gene Damage Index Score: 23.99; 99.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTNL2 Gene

Human Gene Mutation Database (HGMD)
BTNL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTNL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTNL2 Gene

Disorders for BTNL2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for BTNL2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sarcoidosis 2
  • sarcoidosis
sarcoidosis 1
  • sarcoidosis, susceptibility to, 1
autosomal dominant nocturnal frontal lobe epilepsy 2
  • enfl2
hypersensitivity reaction type iv disease
  • immunoproliferative disease
epilepsy, nocturnal frontal lobe, 1
  • enfl1
- elite association - COSMIC cancer census association via MalaCards
Search BTNL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BTNL2_HUMAN
  • Sarcoidosis 2 (SS2) [MIM:612387]: An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. {ECO:0000269 PubMed:15735647}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A nucleotide transition affecting a splice donor site results in the use of an alternative splice site and the production of isoform 3. Individuals expressing isoform 3 have a higher risk for sarcoidosis.

Additional Disease Information for BTNL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BTNL2: view

No data available for Genatlas for BTNL2 Gene

Publications for BTNL2 Gene

  1. Sarcoidosis is associated with a truncating splice site mutation in BTNL2. (PMID: 15735647) Valentonyte R … Schreiber S (Nature genetics 2005) 2 3 4 22 44 58
  2. BTL-II: a polymorphic locus with homology to the butyrophilin gene family, located at the border of the major histocompatibility complex class II and class III regions in human and mouse. (PMID: 10803852) Stammers M … Beck S (Immunogenetics 2000) 2 3 4 22 58
  3. BTNL2 gene polymorphisms may be associated with susceptibility to Kawasaki disease and formation of coronary artery lesions in Taiwanese children. (PMID: 19882345) Hsueh KC … Tsai FJ (European journal of pediatrics 2010) 3 22 44 58
  4. Confirmation of the novel association at the BTNL2 locus with ulcerative colitis. (PMID: 19659809) Pathan S … Jewell DP (Tissue antigens 2009) 3 22 44 58
  5. BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals. (PMID: 17927685) Sato H … Maier LA (Tissue antigens 2007) 3 22 44 58

Products for BTNL2 Gene

Sources for BTNL2 Gene

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