ORMDL2 (ORMDL sphingolipid biosynthesis regulator 2)

2014-11-01 Affiliation

Identity

HGNC

ORMDL2

LOCATION

12q13.2

LOCUSID

29095

ALIAS

HSPC160,MST095,MSTP095,adoplin-2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000123353	ENST00000243045	Q53FV1
ENSG00000123353	ENST00000548974	Q53FV1
ENSG00000123353	ENST00000550836	F8VWV8
ENSG00000123353	ENST00000552672	F8VXD5

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Sphingolipid metabolism	REACTOME	R-HSA-428157
Sphingolipid de novo biosynthesis	REACTOME	R-HSA-1660661

References

Pubmed ID	Year	Title	Citations
23066021	2012	Mammalian ORMDL proteins mediate the feedback response in ceramide biosynthesis.	40
25395622	2015	Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells.	16

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