ORMDL2 (ORMDL sphingolipid biosynthesis regulator 2)

2014-11-01  

Identity

HGNC
ORMDL2
LOCATION
12q13.2
LOCUSID
29095
ALIAS
HSPC160,MST095,MSTP095,adoplin-2

Other Information

Locus ID:

NCBI: 29095
MIM: 610074
HGNC: 16037
Ensembl: ENSG00000123353

Variants:

dbSNP: 29095
ClinVar: 29095
TCGA: ENSG00000123353
COSMIC: ORMDL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123353ENST00000243045Q53FV1
ENSG00000123353ENST00000548974Q53FV1
ENSG00000123353ENST00000550836F8VWV8
ENSG00000123353ENST00000552672F8VXD5

Expression (GTEx)

0
10
20
30
40
50
60
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

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

References

Pubmed IDYearTitleCitations
253956222015Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.29
253956222015Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.29
230660212012Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis.80
230660212012Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis.80

Citation

Dessen P

ORMDL2 (ORMDL sphingolipid biosynthesis regulator 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71548/ormdl2-(ormdl-sphingolipid-biosynthesis-regulator-2)