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FLASH GENE

Symbol

ORMDL2

contributors: mct - updated : 27-08-2018

HGNC name	ORM1-like 2 (S. cerevisiae)
HGNC id	16037

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	12q13.2      Physical location : 56.211.805 - 56.214.959
Synonym name	ORM1 (S. cerevisiae)-like 2
	expressed in normal aorta
	adoplin-2
Synonym symbol(s)	HSPC160, adoplin-2, MST095, MSTP095

DNA

TYPE	functioning gene
STRUCTURE	3.15 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014182 4 - 1361 NP_054901 - 153 - 2012 23066021

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver         Endocrine pancreas         Nervous brain         Reproductive female system breast mammary gland       female system placenta       Respiratory lung         Urinary bladder           kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

fetal

Text	heart, brain, lung, liver, kidney, spleen, thymus

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

three putative transmembrane domains

HOMOLOGY

interspecies	homolog to rattus Ormdl2 (97.4pc)
	homolog to murine Ormdl2 (97.4pc)

Homologene

FAMILY

ORM family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	negative regulator of sphingolipid synthesis (Breslow 2010)
	unique molecules with presenilin-related expression and functions that may play important role(s) in the maturation and activity of the gamma-secretase complex (Araki 2008)
	Orm proteins are critical mediators of sphingolipid homeostasis, raising the possibility that sphingolipid misregulation contributes to the development of childhood asthma
	ORMDL1, ORMDL2, ORMDL3 are the primary regulators of ceramide biosynthesis in mammalian cells, and constitute the major homeostatic regulators of ceramide biosynthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

SPTLC1 activity indirectly regulates ORMDL1, ORMDL2, ORMDL3 expression 2)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene	may be a critical mediator of sphingolipid homeostasis and with sphingolipid dysregulation might contribute to the development of childhood asthma (Breslow 2010)
Marker
Therapy target

ANIMAL & CELL MODELS