TM2D3 (TM2 domain containing 3)

2019-04-01  

Identity

HGNC
TM2D3
LOCATION
15q26.3
LOCUSID
80213
ALIAS
BLP2

Other Information

Locus ID:

NCBI: 80213
MIM: 610014
HGNC: 24128
Ensembl: ENSG00000184277

Variants:

dbSNP: 80213
ClinVar: 80213
TCGA: ENSG00000184277
COSMIC: TM2D3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184277ENST00000333202Q9BRN9
ENSG00000184277ENST00000347970Q9BRN9
ENSG00000184277ENST00000428002E7EPS7
ENSG00000184277ENST00000558129H0YNF6
ENSG00000184277ENST00000558677H3BSX6
ENSG00000184277ENST00000559107H0YNS4
ENSG00000184277ENST00000560013H0YM84
ENSG00000184277ENST00000561373B3KT51

Expression (GTEx)

0
5
10
15
20
25
30
35
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
166424352006Cis- and trans-acting gene regulation is associated with osteoarthritis.27
277641012016Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.19
294464872018TM2D3 rs675436 or FGFR2 rs755793 polymorphisms and susceptibility to Epstein-Barr virus-associated tumors in Chinese Han population.0

Citation

Dessen P

TM2D3 (TM2 domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57826/tm2d3