BTNL2 Gene
protein-coding GIFtS: 53
GCID: GC06M032359
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|
butyrophilin-like 2 (MHC class II associated)
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Aliases
for BTNL2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Butyrophilin-Like 2 (MHC Class II Associated)1 2 | | BTL-II1 2 3 | | HSBLMHC11 2 | | SS22 5 | | Butyrophilin-Like Protein 22 |
Export aliases for BTNL2 gene to outside databasesPrevious GC identifers: GC06M032389 GC06M032133 GC06M032433 GC06M032470 |
Summaries
for BTNL2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: BTNL2_HUMAN, Q9UIR0Function: Negative regulator of T-cell proliferation (By similarity)
Gene Wiki entry for BTNL2
|
Genomic Views
for BTNL2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15 NT_113891.2 NT_167244.1 NT_167245.1 NT_167246.1 NT_167247.1
- NT_167248.1 NT_167249.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BTNL2 gene promoter:
HOXA9B HOXA9 Meis-1b YY1 E47 AREB6 ATF6 Meis-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for BTNL2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTNL2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p21.32 HGNC cytogenetic band: 6p21.3BTNL2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M032359: view genomic region
(about GC identifiers)
Start:
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32,359,241 bp from pter |
End:
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32,379,511 bp from pter |
Size:
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20,271 bases |
Orientation:
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minus strand |
6/7 alternative locations (see all 7):
| Chr6-,ALT_REF_LOCI_6 32,318,107-32,367,949 | Chr6-,ALT_REF_LOCI_1 32,371,619-32,394,171 | Chr6-,ALT_REF_LOCI_2 32,308,863-32,362,291 | | Chr6-,ALT_REF_LOCI_3 32,336,148-32,361,427 | Chr6-,ALT_REF_LOCI_5 32,353,494-32,365,886 | Chr6-,ALT_REF_LOCI_4 32,325,008-32,337,419 | |
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Proteins
for BTNL2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BTNL2_HUMAN, Q9UIR0 (See
protein sequence)Recommended Name: Butyrophilin-like protein 2 Size: 455 amino acids; 50436 Da
Subcellular location: Membrane; Single-pass type II membrane protein. Note=Isoform 2 is present in the nuclear, vesicleand plasma membranes, isoform 3 is found in cytoplasmic vesicle structures and is not membrane bound
Secondary accessions: A0PJV5 B0UYW9 B0V0N6 O98261 Q08E96 Q58R22 Q58R23 Q5JYF9 Q5MP42 Q5MP43 Q5RIF8Q5SP08 Q5SP09 Q5SRW3 Q5SRW4 Q5SU36 Q95HK0Alternative splicing: 6 isoforms: Q9UIR0-1 Q9UIR0-2 Q9UIR0-3 Q9UIR0-4 Q9UIR0-5 Q9UIR0-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for BTNL2: NX_Q9UIR0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UIR0
BTNL2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_062548.1
ENSEMBL proteins: ENSP00000419512 ENSP00000420063 ENSP00000390512 ENSP00000390613 ENSP00000388434 ENSP00000364134 ENSP00000364132 ENSP00000444714 ENSP00000443364 ENSP00000411166
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
BTNL2 for ontologies About GeneDecksing
BTNL2 Antibody Products:
Assay Products for BTNL2: |
Protein
Domains /
Families
for BTNL2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BTNL2 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UIR0ProtoNet protein and cluster: Q9UIR0 2 Blocks protein families: IPB003599 Immunoglobulin subtype IPB013106 Immunoglobulin V-set
UniProtKB/Swiss-Prot: BTNL2_HUMAN, Q9UIR0Similarity: Belongs to the immunoglobulin superfamily. BTN/MOG familySimilarity: Contains 3 Ig-like V-type (immunoglobulin-like) domains |
Function
for BTNL2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BTNL2_HUMAN, Q9UIR0Function: Negative regulator of T-cell proliferation (By similarity)Induction: By proinflammatory cytokines such as TNF and IL1B/interleukin-1 beta Genatlas biochemistry entry for BTNL2:butyrophilin-like 7,B box family of proteins,involved in cell proliferation and development
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BTNL2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTNL2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for BTNL2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTNL2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTNL2 |
1 GenomeRNAi human phenotype for BTNL2:
|
Pathways & Interactions
for BTNL2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BTNL2
|
Drugs & Compounds
for BTNL2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BTNL2
Search CenterWatch for drugs/clinical trials and news about BTNL2
|
Transcripts
for BTNL2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BTNL2 gene: NM_019602.1 Unigene Cluster for BTNL2: Butyrophilin-like 2 (MHC class II associated) Hs.534471 Unigene Representative Sequence: NM_01960210 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000468270 ENST00000465865(uc010jtz.1) ENST00000414363(uc010jua.1)
ENST00000454136 ENST00000446536 ENST00000374995 ENST00000374993(uc003obg.1)
ENST00000540315 ENST00000544175(uc010jty.1) ENST00000429232
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BTNL2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTNL2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: BTNL2 (NM_019602) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BTNL2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTNL2 |
Additional cDNA sequence: AY684332.1 AY684333.1 BC119668.1 BC127641.1 BC127642.1 2 DOTS entries: DT.91958098 DT.121380822 1 AceView cDNA sequence: NM_019602
GeneLoc Exon Structure
|
Expression
for BTNL2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BTNL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAGGAAAGA
About this image
See BTNL2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BTNL2
SOURCE GeneReport for Unigene cluster: Hs.534471
UniProtKB/Swiss-Prot: BTNL2_HUMAN, Q9UIR0Tissue specificity: Expressed in brain, heart, kidney, liver, pancreas, ovary, leukocyte, small intestine, testis andthymus
SABiosciences Custom PCR Arrays for BTNL2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BTNL2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BTNL2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BTNL2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BTNL2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTNL2 |
Orthologs
for BTNL2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for BTNL2 gene from 1/6 species (see all 6) About this table
ENSEMBL Gene Tree for BTNL2 (if available)
TreeFam Gene Tree for BTNL2 (if available) |
Paralogs
for BTNL2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BTNL2 gene
- BTN3A22 BTN2A12 BTNL82 ERMAP2 BTN3A32 BTN2A22 HHLA22 CD2762
- BTNL102 MOG2 BTN3A12 VTCN12 BTN1A12 BTNL92 BTNL32
13 SIMAP similar genes for BTNL2 using alignment to 16 protein entries: BTNL2_HUMAN (see all proteins):BTN1A1 BTN2A2 BTN2A1 BTNL8 BTNL3 SKINT1
MOG BT3.3 BTNL9 BTN3A2 BTN3A3 BTN3A1
BTNL10
BTNL2 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for BTNL2
PGOHUM00000244014
|
Genomic Variants
for BTNL2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BTNL2 (32359241 - 32379511 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for BTNL2
3 CNVs: 3603 7566 32788
Human Gene Mutation Database (HGMD): BTNL2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTNL2 |
|
Disorders
/ Diseases
for BTNL2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BTNL2 for disorders About GeneDecksing
OMIM gene information: 606000
OMIM disorders: 612387
UniProtKB/Swiss-Prot: BTNL2_HUMAN, Q9UIR0
Genetic variation in BTNL2 is a cause of susceptibility to sarcoidosis type 2 (SS2) [MIM:612387]. Sarcoidosisis an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involvedorgans. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes andother organs may be involved. Note=A nucleotide transition affecting a splice donor site results in the use of analternative splice site and the production of isoform 3. Individuals expressing isoform 3 have a higher risk forsarcoidosis
20/24  diseases for BTNL2 (see all 24): About MalaCardswegener's granulomatosis sarcoidosis ankylosing spondylitis toxic shock syndrome
systemic lupus erythematosus lupus erythematosus pulmonary sarcoidosis ulcerative colitis
spondylitis kawasaki disease graves' disease rheumatoid arthritis
multiple sclerosis vitiligo leprosy crohn's disease
hepatitis b osteoarthritis arthritis hepatitis
1 disease from the University of Copenhagen DISEASES database for BTNL2:Sarcoidosis 1 Novoseek disease relationship for BTNL2 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sarcoidosis |
69.4 |
13 |
17661910 (4), 15735647 (2), 17927685 (2), 17610417 (1) |
Genetic Association Database (GAD): BTNL2
Human Genome Epidemiology (HuGE) Navigator: BTNL2 (37 documents)
Export disorders for BTNL2 gene to outside databases
|
Publications
for BTNL2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BTNL2 gene, integrated from 9 sources (see all 59):
(articles sorted by number of sources associating them with BTNL2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Sarcoidosis is associated with a truncating splice site mutation in BTNL2. (PubMed id 15735647)1, 2, 3, 4, 9 Valentonyte R....Schreiber S. (2005)
- 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. (PubMed id 10803852)1, 2, 3, 9 Stammers M.... Beck S. (2000)
- Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15. (PubMed id 16321988)1, 4 Traherne J.A....Trowsdale J. (2006)
- The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites. (PubMed id 16080124)1, 4 Rybicki B.A....Iannuzzi M.C. (2005)
- Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity. (PubMed id 15516930)1, 2 Hiller M.... Platzer M. (2004)
- BTNL2 gene polymorphisms may be associated with susce ptibility to Kawasaki disease and formation of coronary artery lesions in Taiwa nese children. (PubMed id 19882345)1, 9 Hsueh K.C....Tsai F.J. (2010)
- Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis. (PubMed id 17661910)1, 9 Spagnolo P....Welsh K.I. (2007)
- Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502. (PubMed id 17610417)1, 9 Mochida A....Shimosegawa T. (2007)
- BTNL2 allele associations with chronic beryllium disease in HLA-DPB1*Glu69-negative individuals. (PubMed id 17927685)1, 9 Sato H....Maier L.A. (2007)
- Confirmation of the novel association at the BTNL2 lo cus with ulcerative colitis. (PubMed id 19659809)1, 9 Pathan S....Jewell D.P. (2009)
|
External Searches for BTNL2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BTNL2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BTNL2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BTNL2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BTNL2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for BTNL2 gene:
Search GeneIP for patents involving BTNL2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BTNL2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BTNL2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BTNL2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTNL2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BTNL2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BTNL2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BTNL2 |
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 | | | BTNL2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTNL2 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTNL2 |
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