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FLASH GENE

Symbol

DEGS2

contributors: mct - updated : 12-11-2012

HGNC name	degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)
HGNC id	20113

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_206918 3 - 1411 NP_996801 - 323 - 2004 15063729

EXPRESSION

Type

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 Digestive intestine small intestine     highly Mus musculus MDES2 mRNA   intestine large intestine colon     Endocrine pancreas islet of Langerhans (obligat)       Skin/Tegument skin         Urinary kidney       highly Mus musculus MDES2 mRNA

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone subchondral     Epithelial barrier lining endometrium

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a region important for C-4 hydroxylase activity, containing the sequence XAFGY (X=T or A or V; Y=T or N) and occuring on the C-terminal side of the first His-box

HOMOLOGY

interspecies

homolog to murine Des2

Homologene

FAMILY

CATEGORY

enzyme

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

basic FUNCTION	having oxidoreductase activity
	playing an essential role in phytosphingolipid synthesis in skin and other phytosphingolipid-containing tissues
	overexpression of DEGS1 or DEGS2 attenuated the dihydroceramide accumulation and increased cell proliferation during hypoxia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

during during vitamin C/serum-induced differentiation of keratinocytes

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   of DEGS1 or DEGS2 attenuated the dihydroceramide accumulation and increased cell proliferation during hypoxia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS