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FLASH GENE

Symbol

FADS2

contributors: mct - updated : 17-12-2021

HGNC name	fatty acid desaturase 2
HGNC id	3575

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_001281501 12 - 3025 NP_001268430 - 422 - 2003 12562861 NM_001281502 12 - 3094 NP_001268431 - 413 - 2003 12562861 NM_004265 12 - 3091 NP_004256 - 444 - 2003 12562861

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 Cardiovascular heart         Homo sapiens   vessel artery     highly Homo sapiens Digestive esophagus         Homo sapiens Endocrine thyroid         Homo sapiens Nervous nerve         Homo sapiens Reproductive male system prostate     highly   male system testis     highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N terminal cytochrome b5-like domain and a C terminal multiple membrane spanning desaturase portion (both of which are characterized by conserved histidine motifs)

conjugated

HemoP

HOMOLOGY

interspecies	ortholog to murine Fads2
	homolog to C.elegans fat-3

intraspecies	paralog to FADS1
	paralog to FADS3

Homologene

FAMILY	member of the fatty acid desaturase (FADS) gene family
	cytochrome B5 family

CATEGORY

enzyme

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

basic FUNCTION	regulating unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain
	desaturating fatty acids 18:2(n-6) and 18:3(n-3) to form 20:4(n-6) (arachidonic acid) and 22:6(n-3) (docosahexaenoic acid)
	association of the fatty acid desaturase 1 fatty acid desaturase 2 (FADS1, FADS2) gene cluster and the fatty acid composition of erythrocyte membranes
	because of the importance of FADS2 in human skin, likely dysfunction in activity of sebaceous FADS2 may play a role in skin abnormalities associated with skin lipids

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

lipid/lipoprotein

signaling

fatty acid desaturation

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

induced by

SREBP-1c

repressed by

HUFA

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to risk of coronary artery disease (CAD) in diabetic patients to the pathogenesis of non-alcoholic fatty liver disease

Variant & Polymorphism SNP	SNPs in FADS2 gene (particularly rs174537) associate with plasma fatty acids and desaturase levels in patients with both T2D and coronary artery disease (CAD), which maybe increases the risk of CAD in diabetic patients
	genetic variants of FADS2 may contribute to the pathogenesis of non-alcoholic fatty liver disease by modifying DNA methylation
	rs968567 influences FADS2 transcription and offer first insights into the modulation of complex regulation mechanisms of FADS2 gene transcription by SNPs

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

deletion of Fads2 gene expression in the mouse abolishes the initial step in the enzymatic cascade of PUFA synthesis, that does not impair the normal viability and lifespan of male and female fads2 -/- mice, but causes sterility