TMBIM6 (transmembrane BAX inhibitor motif containing 6)

2007-02-01  

Identity

HGNC
TMBIM6
LOCATION
12q13.12
LOCUSID
7009
ALIAS
BAXI1,BI-1,TEGT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7009
MIM: 600748
HGNC: 11723
Ensembl: ENSG00000139644

Variants:

dbSNP: 7009
ClinVar: 7009
TCGA: ENSG00000139644
COSMIC: TMBIM6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139644ENST00000267115P55061
ENSG00000139644ENST00000267115A0A024R0Z5
ENSG00000139644ENST00000395006P55061
ENSG00000139644ENST00000395006A0A024R0Z5
ENSG00000139644ENST00000423828P55061
ENSG00000139644ENST00000546796F8VVJ4
ENSG00000139644ENST00000546914F8W201
ENSG00000139644ENST00000547187F8W201
ENSG00000139644ENST00000547798F8W1V3
ENSG00000139644ENST00000547832F8VSI7
ENSG00000139644ENST00000548201F8VQQ5
ENSG00000139644ENST00000548713A0A0G2JKZ4
ENSG00000139644ENST00000548809F8VY06
ENSG00000139644ENST00000548894F8W1G3
ENSG00000139644ENST00000549130F8VPI1
ENSG00000139644ENST00000549385P55061
ENSG00000139644ENST00000549385A0A024R0Z5
ENSG00000139644ENST00000549445F8W201
ENSG00000139644ENST00000549966F8W086
ENSG00000139644ENST00000550445F8VVJ4
ENSG00000139644ENST00000550951F8VX73
ENSG00000139644ENST00000551154F8VQW0
ENSG00000139644ENST00000552370P55061
ENSG00000139644ENST00000552370A0A024R0Z5
ENSG00000139644ENST00000552635F8VR05
ENSG00000139644ENST00000552699P55061

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
175265002007Bax inhibitor-1 regulates endoplasmic reticulum stress-associated reactive oxygen species and heme oxygenase-1 expression.42
193395482009Bax inhibitor 1 regulates ER-stress-induced ROS accumulation through the regulation of cytochrome P450 2E1.41
183786682008Bax Inhibitor-1 Is a pH-dependent regulator of Ca2+ channel activity in the endoplasmic reticulum.40
182993292008BI-1 regulates endoplasmic reticulum Ca2+ homeostasis downstream of Bcl-2 family proteins.36
225887182012Endoplasmic reticulum protein BI-1 regulates Ca²⁺-mediated bioenergetics to promote autophagy.36
210750862011Endoplasmic reticulum protein BI-1 modulates unfolded protein response signaling and protects against stroke and traumatic brain injury.30
221281712012The C terminus of Bax inhibitor-1 forms a Ca2+-permeable channel pore.30
128759742003Bax inhibitor-1 is overexpressed in prostate cancer and its specific down-regulation by RNA interference leads to cell death in human prostate carcinoma cells.28
212976652011Bax inhibitor 1 in apoptosis and disease.25

Citation

Dessen P

TMBIM6 (transmembrane BAX inhibitor motif containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45568/tmbim6-(transmembrane-bax-inhibitor-motif-containing-6)