BTN3A2 (butyrophilin subfamily 3 member A2)

2012-12-01  

Identity

HGNC
BTN3A2
LOCATION
6p22.2
LOCUSID
11118
ALIAS
BT3.2,BTF4,BTN3.2,CD277
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11118
MIM: 613594
HGNC: 1139
Ensembl: ENSG00000186470

Variants:

dbSNP: 11118
ClinVar: 11118
TCGA: ENSG00000186470
COSMIC: BTN3A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186470ENST00000356386P78410
ENSG00000186470ENST00000377708P78410
ENSG00000186470ENST00000396934P78410
ENSG00000186470ENST00000396948P78410
ENSG00000186470ENST00000508906P78410
ENSG00000186470ENST00000524459E9PIU5
ENSG00000186470ENST00000527417E9PJE9
ENSG00000186470ENST00000527422P78410
ENSG00000186470ENST00000527639S4R3N0
ENSG00000186470ENST00000530653E9PRX1
ENSG00000186470ENST00000532865E9PRR1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
195718092009Common variants on chromosome 6p22.1 are associated with schizophrenia.407
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
226855802012BTN3A2 expression in epithelial ovarian cancer is associated with higher tumor infiltrating T cells and a better prognosis.28
192955422009Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex.13
192955422009Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex.13
282460152017Exome Array Analysis Identifies Variants in SPOCD1 and BTN3A2 That Affect Risk for Gastric Cancer.11
229661502012Evaluation of HLA polymorphisms in relation to schizophrenia risk and infectious exposure.10
259288822015Fine-mapping butyrophilin family genes revealed several polymorphisms influencing viral genotype selection in hepatitis C infection.2
284478572017CpG-specific methylation at rheumatoid arthritis diagnosis as a marker of treatment response.0

Citation

Dessen P

BTN3A2 (butyrophilin subfamily 3 member A2)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53072/btn3a2