BTBD2 (BTB domain containing 2)

2010-06-01 Affiliation

Identity

HGNC

BTBD2

LOCATION

19p13.3

LOCUSID

55643

ALIAS

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: 55643
MIM: 608531
HGNC: 15504
Ensembl: ENSG00000133243

Variants:

dbSNP: 55643
ClinVar: 55643
TCGA: ENSG00000133243
COSMIC: BTBD2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000133243	ENST00000255608	Q9BX70
ENSG00000133243	ENST00000587742	A0A087X147
ENSG00000133243	ENST00000587825	K7ENV9
ENSG00000133243	ENST00000588395	A0A087WUX2
ENSG00000133243	ENST00000589200	K7EMW9
ENSG00000133243	ENST00000590646	A0A087WY57
ENSG00000133243	ENST00000592082	A0A087WXN3

Expression (GTEx)

100

150

200

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

References

Pubmed ID	Year	Title	Citations
20368557	2010	Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival.	44
20610542	2010	Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.	9
21092135	2010	Human TOP1 residues implicated in species specificity of HIV-1 infection are required for interaction with BTBD2, and RNAi of BTBD2 in old world monkey and human cells increases permissiveness to HIV-1 infection.	2
20368557	2010	Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival.	44
20610542	2010	Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.	9
21092135	2010	Human TOP1 residues implicated in species specificity of HIV-1 infection are required for interaction with BTBD2, and RNAi of BTBD2 in old world monkey and human cells increases permissiveness to HIV-1 infection.	2
12878161	2003	BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta.	48
12878161	2003	BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta.	48

Citation

Dessen P

BTBD2 (BTB domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51530/haematological-explorer/cancer-prone-explorer/