TMEM106B (transmembrane protein 106B)

2019-04-01  

Identity

HGNC
TMEM106B
LOCATION
7p21.3
LOCUSID
54664
ALIAS
HLD16
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54664
MIM: 613413
HGNC: 22407
Ensembl: ENSG00000106460

Variants:

dbSNP: 54664
ClinVar: 54664
TCGA: ENSG00000106460
COSMIC: TMEM106B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106460ENST00000396667Q9NUM4
ENSG00000106460ENST00000396667A0A024R9Z1
ENSG00000106460ENST00000396668Q9NUM4
ENSG00000106460ENST00000396668A0A024R9Z1
ENSG00000106460ENST00000420833F2Z3N7
ENSG00000106460ENST00000442107C9J998
ENSG00000106460ENST00000444443C9JZ87

Expression (GTEx)

0
5
10
15
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
201546732010Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.182
201546732010Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.182
228957062012TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways.77
212206492011Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels.64
248991412014Differential clinicopathologic and genetic features of late-onset amnestic dementias.62
231361292013The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function.59
243851362014TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.55
225117932012Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration.49
244425782014TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.48
211044152011Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis.47

Citation

Dessen P

TMEM106B (transmembrane protein 106B)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57836/tmem106b