BTN2A1 (butyrophilin subfamily 2 member A1)

2014-11-01  

Identity

HGNC
BTN2A1
LOCATION
6p22.2
LOCUSID
11120
ALIAS
BK14H9.1,BT2.1,BTF1,BTN2.1,DJ3E1.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11120
MIM: 613590
HGNC: 1136
Ensembl: ENSG00000112763

Variants:

dbSNP: 11120
ClinVar: 11120
TCGA: ENSG00000112763
COSMIC: BTN2A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112763ENST00000312541Q7KYR7
ENSG00000112763ENST00000377600H7BYC3
ENSG00000112763ENST00000429381Q7KYR7
ENSG00000112763ENST00000469185Q7KYR7
ENSG00000112763ENST00000480218H7C542
ENSG00000112763ENST00000493173C9JNC3
ENSG00000112763ENST00000541522Q7KYR7

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Butyrophilin (BTN) family interactionsREACTOMER-HSA-8851680

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
371711802023Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1.2
376740842023Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vγ9Vδ2 T cells.12
371711802023Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1.2
376740842023Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vγ9Vδ2 T cells.12
350813622022Ligand-induced interactions between butyrophilin 2A1 and 3A1 internal domains in the HMBPP receptor complex.16
358331182022BTN3A Targeting Vγ9Vδ2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells.4
350813622022Ligand-induced interactions between butyrophilin 2A1 and 3A1 internal domains in the HMBPP receptor complex.16
358331182022BTN3A Targeting Vγ9Vδ2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells.4
339591322021Soluble BTN2A1 Is a Potential Prognosis Biomarker in Pre-Treated Advanced Renal Cell Carcinoma.7
342609352021BTN2A1, an immune checkpoint targeting Vγ9Vδ2 T cell cytotoxicity against malignant cells.39
339591322021Soluble BTN2A1 Is a Potential Prognosis Biomarker in Pre-Treated Advanced Renal Cell Carcinoma.7
342609352021BTN2A1, an immune checkpoint targeting Vγ9Vδ2 T cell cytotoxicity against malignant cells.39
244527792014Association of a polymorphism of BTN2A1 with dyslipidemia in community-dwelling individuals.9
244527792014Association of a polymorphism of BTN2A1 with dyslipidemia in community-dwelling individuals.9
225766292012Synergistic effects of genetic variants of APOA5 and BTN2A1 on dyslipidemia or metabolic syndrome.9

Citation

Dessen P

BTN2A1 (butyrophilin subfamily 2 member A1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60836/btn2a1-(butyrophilin-subfamily-2-member-a1)