BTNL2 (butyrophilin like 2)

2014-06-01 Affiliation

Identity

HGNC

BTNL2

LOCATION

6p21.32

LOCUSID

56244

ALIAS

BTL-II,BTN7,HSBLMHC1,SS2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 56244
MIM: 606000
HGNC: 1142
Ensembl: ENSG00000204290

Variants:

dbSNP: 56244
ClinVar: 56244
TCGA: ENSG00000204290
COSMIC: BTNL2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000204290	ENST00000374993	Q9UIR0
ENSG00000204290	ENST00000374993	A0A1U9X7C0
ENSG00000204290	ENST00000446536	F6UPS5
ENSG00000204290	ENST00000454136	F8WBA1
ENSG00000204290	ENST00000465865	F8WDK6
ENSG00000204290	ENST00000544175	Q9UIR0

Expression (GTEx)

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

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Butyrophilin (BTN) family interactions	REACTOME	R-HSA-8851680

References

Pubmed ID	Year	Title	Citations
19936222	2009	Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.	151
19122664	2009	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	148
19122664	2009	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.	148
15735647	2005	Sarcoidosis is associated with a truncating splice site mutation in BTNL2.	111
15735647	2005	Sarcoidosis is associated with a truncating splice site mutation in BTNL2.	111
19851445	2009	High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.	51
17237401	2007	BTNL2, a butyrophilin/B7-like molecule, is a negative costimulatory molecule modulated in intestinal inflammation.	41
16080124	2005	The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites.	38
16080124	2005	The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites.	38
27213287	2016	Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease.	38

Citation

Dessen P

BTNL2 (butyrophilin like 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54003/btnl2