BTNL2 Gene (Protein Coding)

Butyrophilin Like 2

GC06M032393
GIFtS:
39
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... See more...

Aliases for BTNL2 Gene

Aliases for BTNL2 Gene

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

External Ids for BTNL2 Gene

Previous GeneCards Identifiers for BTNL2 Gene

  • GC06M032389
  • GC06M032133
  • GC06M032433
  • GC06M032470
  • GC06M032359

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 Butyrophilin (BTN) family interactions and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is BTN1A1.

UniProtKB/Swiss-Prot Summary for BTNL2 Gene

Gene Wiki entry for BTNL2 Gene

Additional gene information for BTNL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BTNL2 Gene

Genomics for BTNL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH06J032407 Enhancer 0.2 Ensembl 250.7 +1.6 1578 0.6 BTNL2 lnc-BTNL2-1 HLA-DQA2 TSBP1 HLA-DOB HCG23 TSBP1-AS1
GH06J032369 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 5.4 +38.1 38078 2.8 CEBPB DEK EP300 RAD21 RFX5 STAT3 TCF7L2 JUND MAFF POLR2A TSBP1 HLA-DRB1 HLA-DRB6 HLA-DQA2 HCG23 RNF5 C4A HLA-DRB5 HLA-DQB2 TSBP1-AS1
GH06J032266 Enhancer 0.4 Ensembl 5.4 +141.0 140979 2.2 NR2F1 SPI1 MTA2 HLA-DRB6 RNF5 ATF6B TNXB HLA-DRB1 MICB BTNL2 HLA-DRB5 piR-56883-155 HSALNG0049395
GH06J032411 Enhancer 0.4 ENCODE 4.8 -3.1 -3061 1.5 FEZF1 PRDM6 BCL11A SCRT2 HSALNG0049401 lnc-HLA-DRA-3 piR-39858-549 HLA-DRB6 HLA-DQA2 C4A HCG23 HLA-DRB1 HLA-DRB5 BTNL2
GH06J032413 Enhancer 0.9 Ensembl ENCODE 0.7 -4.7 -4722 0.8 BCLAF1 ZNF654 ZNF600 CTCF REST ZNF592 DEK TRIM22 NONO RAD21 lnc-HLA-DRA-3 HLA-DRB6 HLA-DQA2 C4A HLA-DRB5 HLA-DRA PSMB9 TAP1 BTNL2 lnc-BTNL2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTNL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTNL2

Top Transcription factor binding sites by QIAGEN in the BTNL2 gene promoter:
  • AREB6
  • ATF6
  • E47
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • YY1

Genomic Locations for BTNL2 Gene

Latest Assembly
chr6:32,393,339-32,408,879
(GRCh38/hg38)
Size:
15,541 bases
Orientation:
Minus strand

Previous Assembly
chr6:32,361,116-32,374,907
(GRCh37/hg19 by Entrez Gene)
Size:
13,792 bases
Orientation:
Minus strand

chr6:32,361,740-32,374,905
(GRCh37/hg19 by Ensembl)
Size:
13,166 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_1):3,725,570-3,739,359 (-)
  • chr6(ALT_REF_LOCI_2):3,831,431-3,845,208 (-)
  • chr6(ALT_REF_LOCI_3):3,634,430-3,648,208 (-)
  • chr6(ALT_REF_LOCI_4):3,698,332-3,712,147 (-)
  • chr6(ALT_REF_LOCI_5):3,735,089-3,748,885 (-)
  • chr6(ALT_REF_LOCI_6):3,616,378-3,630,176 (-)
  • chr6(ALT_REF_LOCI_7):3,709,261-3,723,057 (-)
  • chr6(ALT_REF_LOCI_8):46,826-60,642 (+)

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 Structure • Gene Density

Proteins for BTNL2 Gene

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  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for BTNL2 Gene

Protein Expression for BTNL2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BTNL2 Gene

  • Glycosylation at Asn427 and Asn210
  • Modification sites at PhosphoSitePlus

Other Protein References for BTNL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for BTNL2 Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
  • Immunoglobulin subtype

Suggested Antigen Peptide Sequences for BTNL2 Gene

GenScript: Design optimal peptide antigens:
  • BTNL2 protein (A0PJV4_HUMAN)
  • Butyrophilin-like 2 (MHC class II associated) (A2AAZ9_HUMAN)
  • Butyrophilin-like 2 (MHC class II associated) (A2AB00_HUMAN)
  • Butyrophilin-like 2 (MHC class II associated) (A2ADC3_HUMAN)
  • Butyrophilin-like 2 (MHC class II associated) (A2AVS5_HUMAN)

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

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  6. Cell Lines for research

Molecular function for BTNL2 Gene

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.
GENATLAS Biochemistry:
butyrophilin-like 7,B box family of proteins,involved in cell proliferation and development

Phenotypes From GWAS Catalog for BTNL2 Gene

Gene Ontology (GO) - Molecular Function for BTNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA 21873635
genes like me logo Genes that share ontologies with BTNL2: view
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

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTNL2

No data available for Enzyme Numbers (IUBMB) , 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
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BTNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
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

Interacting Proteins for BTNL2 Gene

Selected Interacting proteins: Q9UIR0-BTNL2_HUMAN for BTNL2 Gene via UniProtKB IID

GPS-Prot Interaction Network for BTNL2

Gene Ontology (GO) - Biological Process for BTNL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IBA 21873635
GO:0032743 positive regulation of interleukin-2 production IEA --
GO:0042102 positive regulation of T cell proliferation IEA --
GO:0050852 T cell receptor signaling pathway IBA 21873635
GO:0050860 negative regulation of T cell receptor signaling pathway 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

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No Compound Related Data Available

Transcripts for BTNL2 Gene

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mRNA/cDNA for BTNL2 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTNL2

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

No ASD Table

Relevant External Links for BTNL2 Gene

GeneLoc Exon Structure for
BTNL2

Expression for BTNL2 Gene

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

mRNA expression in normal human tissues for BTNL2 Gene
mRNA expression by BioGPS for BTNL2 GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.5)
  • Heart(2.2)
  • Intestine(2.2)
  • Spleen(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

Primer products for research

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 29 30
  • 81.82 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BTNL2 29 30
  • 80.43 (n)
 OneToMany
-- 30
  • 71 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Btnl2 29
  • 75.22 (n)
Mouse
(Mus musculus)
 Mammalia Btnl2 29 16 30
  • 74.93 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 42 (a)
 OneToMany
-- 30
  • 41 (a)
 OneToMany
-- 30
  • 39 (a)
 OneToMany
-- 30
  • 37 (a)
 OneToMany
-- 30
  • 37 (a)
 OneToMany
-- 30
  • 35 (a)
 OneToMany
-- 30
  • 34 (a)
 OneToMany
-- 30
  • 33 (a)
 OneToMany
-- 30
  • 33 (a)
 OneToMany
-- 30
  • 32 (a)
 OneToMany
-- 30
  • 32 (a)
 OneToMany
-- 30
  • 32 (a)
 OneToMany
-- 30
  • 28 (a)
 OneToMany
-- 30
  • 22 (a)
 OneToMany
-- 30
  • 22 (a)
 OneToMany
-- 30
  • 22 (a)
 OneToMany
-- 30
  • 21 (a)
 OneToMany
-- 30
  • 19 (a)
 OneToMany
-- 30
  • 18 (a)
 OneToMany
-- 30
  • 17 (a)
 OneToMany
-- 30
  • 16 (a)
 OneToMany
-- 30
  • 15 (a)
 OneToMany
-- 30
  • 14 (a)
 OneToMany
-- 30
  • 14 (a)
 OneToMany
-- 30
  • 13 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia BTNL2 30
  • 27 (a)
 OneToOne
Species where no ortholog for BTNL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for BTNL2: view image
Alliance of Genome Resources:
Additional Orthologs for BTNL2

Paralogs for BTNL2 Gene

Paralogs for BTNL2 Gene

(11) SIMAP similar genes for BTNL2 Gene using alignment to 9 proteins:

  • BTNL2_HUMAN
  • A0PJV4_HUMAN
  • F5H556_HUMAN
  • F6UPS5_HUMAN
  • F8W1U8_HUMAN
  • F8W1V0_HUMAN
  • F8WBA1_HUMAN
  • F8WDK6_HUMAN
  • I7HPB5_HUMAN

Pseudogenes.org Pseudogenes for BTNL2 Gene

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

Variants for BTNL2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTNL2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs143181335 Uncertain Significance: not provided 32,403,170(-) A/G
NM_001304561.1(BTNL2):c.474T>C (p.Ser158=) 		SYNONYMOUS
rs149545886 Benign: not provided 32,394,902(-) G/A
NM_001304561.1(BTNL2):c.1202C>T (p.Thr401Met) 		MISSENSE
rs1583273328 Uncertain Significance: not provided 32,405,269(-) C/G
NM_001304561.1(BTNL2):c.97G>C (p.Gly33Arg) 		MISSENSE
rs2076530 Risk Factor: Sarcoidosis 2 32,396,039(-) T/.p.Ser360Gly
NM_001304561.1(BTNL2):c.1078= (p.Ser360=) 		NO_SEQUENCE_ALTERATION
rs369335767 Uncertain Significance: not provided 32,403,013(-) C/T
NM_001304561.1(BTNL2):c.631G>A (p.Ala211Thr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BTNL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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
Leiden Open Variation Database (LOVD)
BTNL2

SNP Genotyping and Copy Number Assays for research

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

Disorders for BTNL2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for BTNL2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
sarcoidosis 2
  • sarcoidosis, susceptibility to, 2
sarcoidosis 1
  • sarcoidosis, susceptibility to, 1
orofacial granulomatosis
  • granulomatosis, orofacial
ulcerative colitis
  • left-sided ulcerative colitis
colitis
- 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 variants 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40 72
  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
  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 40
  4. Confirmation of the novel association at the BTNL2 locus with ulcerative colitis. (PMID: 19659809) Pathan S … Jewell DP (Tissue antigens 2009) 3 22 40
  5. Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis. (PMID: 17661910) Spagnolo P … Welsh KI (Tissue antigens 2007) 3 22 40

ExternalLinks

View latest publications for BTNL2 gene in Mastermind

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