Aliases for BTNL2 Gene
Aliases for BTNL2 Gene
External Ids for BTNL2 Gene
- HGNC: 1142
- Entrez Gene: 56244
- Ensembl: ENSG00000204290
- OMIM: 606000
- UniProtKB: Q9UIR0
Previous GeneCards Identifiers for BTNL2 Gene
- GC06M032389
- GC06M032133
- GC06M032433
- GC06M032470
Summaries 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.
Additional gene information for BTNL2 Gene
- Monarch Initiative
- Search for BTNL2 at DataMed
- Search for BTNL2 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BTNL2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 6p21.32 by Ensembl
- 6p21.32 by Entrez Gene
- 6p21.32 by HGNC
BTNL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BTNL2 Gene
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
- 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
Protein Expression for BTNL2 Gene
Post-translational modifications for BTNL2 Gene
Other Protein References for BTNL2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for BTNL2 (BTNL2/Butyrophilin-like 2)
- Novus Biologicals Antibodies for BTNL2
- Invitrogen Antibodies for BTNL2
- antibodies-online: Search results for 7 available BTNL2 Antibodies ranked by validation data
- Compare Top BTNL2 Antibodies
-
Quality Products:
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Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for BTNL2
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- antibodies-online: Search results for 5 available BTNL2 Proteins ranked by validation data
- Compare Top BTNL2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for BTNL2
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for BTNL2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UIR0- Family:
-
- Belongs to the immunoglobulin superfamily. BTN/MOG family.
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
Phenotypes for BTNL2 Gene
- GenomeRNAi human phenotypes for BTNL2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for BTNL2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for BTNL2 gene
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CRISPR Products
-
OriGene CRISPR knockouts for BTNL2
- genomics-online: gRNA clones - Search results for 75 available BTNL2 gene related products
- Overview of 75 available BTNL2 gene related products
- Applied Biological Materials CRISPR for BTNL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTNL2
miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for BTNL2
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for BTNL2
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for BTNL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for BTNL2 (BTNL2/Butyrophilin-like 2)
Cell Line Products
-
Horizon Cell Lines for BTNL2
-
ViGene Biosciences adenoviral particle packaged cDNA for BTNL2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for BTNL2 gene
- Search ViGene Biosciences for BTNL2
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BTNL2 Gene
Pathways & Interactions for BTNL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | T Cell Co-Signaling Pathway: Ligand-Receptor Interactions | ||
| 2 | Class I MHC mediated antigen processing and presentation | ||
| 3 | Butyrophilin (BTN) family interactions | ||
| 4 | Innate Immune System |
.61
|
|
Pathways by source for BTNL2 Gene
3 Reactome pathways for BTNL2 Gene
1 R&D Systems pathway 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 | -- |
No data available for SIGNOR curated interactions for BTNL2 Gene
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 :
CRISPR Products
-
OriGene CRISPR knockouts for BTNL2
- genomics-online: gRNA clones - Search results for 75 available BTNL2 gene related products
- Overview of 75 available BTNL2 gene related products
- Applied Biological Materials CRISPR for BTNL2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BTNL2
miRNA Products
- Search ViGene Biosciences for BTNL2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for BTNL2
- Browse OriGene Inhibitory RNA Products For BTNL2
- genomics-online: shRNA clones - Search results for 75 available BTNL2 gene related products
- Overview of 75 available BTNL2 gene related products
- Search ViGene Biosciences for BTNL2
Clone Products
- VectorBuilder custom plasmid, inducible vectors for BTNL2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BTNL2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for BTNL2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for BTNL2 (BTNL2/Butyrophilin-like 2)
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of BTNL2 Gene:
BTNL2SOURCE GeneReport for Unigene cluster for BTNL2 Gene:
Hs.534471mRNA 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
Primer Products
-
OriGene qPCR primer pairs for BTNL2
- genomics-online: primer clones - Search results for 75 available BTNL2 gene related products
- Overview of 75 available BTNL2 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | BTNL2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | BTNL2 33 34 |
|
||
| -- 34 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Btnl2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Btnl2 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | BTNL2 34 |
|
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)
Paralogs for BTNL2 Gene
Paralogs for BTNL2 Gene
(11) SIMAP similar genes for BTNL2 Gene using alignment to 9 proteins:
Pseudogenes.org Pseudogenes for BTNL2 Gene
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTNL2 Gene
Disorders for BTNL2 Gene
(9) MalaCards diseases for BTNL2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sarcoidosis 2 |
|
|
| sarcoidosis 1 |
|
|
| autosomal dominant nocturnal frontal lobe epilepsy 2 |
|
|
| hypersensitivity reaction type iv disease |
|
|
| epilepsy, nocturnal frontal lobe, 1 |
|
|
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
No data available for Genatlas for BTNL2 Gene
Publications for BTNL2 Gene
- 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
- 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
- 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
- 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
- Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502. (PMID: 17610417) Mochida A … Shimosegawa T (Tissue antigens 2007) 3 22 44 58
Products for BTNL2 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for BTNL2
- VectorBuilder custom plasmid, inducible vectors for BTNL2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BTNL2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 7 available BTNL2 Antibodies ranked by validation data
- Compare Top BTNL2 Antibodies
- Quality Products:
- antibodies-online: Search results for available BTNL2 related products ranked by validation data
- antibodies-online: Search results for 5 available BTNL2 Proteins ranked by validation data
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- Horizon Cell Lines for BTNL2
- genomics-online: cdna clones - Search results for 75 available BTNL2 gene related products
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Sources for BTNL2 Gene
- (1) GeneCards
- (2) HGNC
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