TMEM107 (transmembrane protein 107)

2014-11-01  

Identity

HGNC
TMEM107
LOCATION
17p13.1
LOCUSID
84314
ALIAS
GRVS638,JBTS29,MKS13,PRO1268
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84314
MIM: 616183
HGNC: 28128
Ensembl: ENSG00000179029

Variants:

dbSNP: 84314
ClinVar: 84314
TCGA: ENSG00000179029
COSMIC: TMEM107

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179029ENST00000316425Q6UX40
ENSG00000179029ENST00000431792E9PIH0
ENSG00000179029ENST00000437139Q6UX40
ENSG00000179029ENST00000449985B2RDT5
ENSG00000179029ENST00000532998B3KNL7
ENSG00000179029ENST00000533070Q6UX40

Expression (GTEx)

0
5
10
15
20
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
197273422009Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice.54
261234942015Identification of a novel MKS locus defined by TMEM107 mutation.18

Citation

Dessen P

TMEM107 (transmembrane protein 107)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74775/tmem107