TOM1L2 (target of myb1 like 2 membrane trafficking protein)

2014-11-01  

Identity

HGNC
TOM1L2
LOCATION
17p11.2
LOCUSID
146691
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 146691
MIM: 615519
HGNC: 11984
Ensembl: ENSG00000175662

Variants:

dbSNP: 146691
ClinVar: 146691
TCGA: ENSG00000175662
COSMIC: TOM1L2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175662ENST00000318094Q6ZVM7
ENSG00000175662ENST00000379504Q6ZVM7
ENSG00000175662ENST00000395739Q6ZVM7
ENSG00000175662ENST00000468944K7EKL6
ENSG00000175662ENST00000478943Q6ZVM7
ENSG00000175662ENST00000535933Q6ZVM7
ENSG00000175662ENST00000540946B7Z2U2
ENSG00000175662ENST00000542206F5H3S6
ENSG00000175662ENST00000579586K7ENB0
ENSG00000175662ENST00000581396Q6ZVM7

Expression (GTEx)

0
50
100
150
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
370191132023The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia.6
370191132023The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia.6
287438602017Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.43
287438602017Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.43
201675772010Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.21
201675772010Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.21
201675772010Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.21
201675772010Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.21

Citation

Dessen P

TOM1L2 (target of myb1 like 2 membrane trafficking protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75050