Elovl2 ELOVL fatty acid elongase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Elovl2provided by MGI
Official Full Name: ELOVL fatty acid elongase 2provided by MGI
Primary source: MGI:MGI:1858960
See related: Ensembl:ENSMUSG00000021364 AllianceGenome:MGI:1858960
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ssc2
Summary: Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid and very long-chain fatty acid biosynthetic process. Acts upstream of or within very long-chain fatty acid metabolic process. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in several structures, including brain; liver; paravertebral ganglion; sensory organ; and urinary system. Orthologous to human ELOVL2 (ELOVL fatty acid elongase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E18 (RPKM 67.6), liver adult (RPKM 66.2) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.3; 13 20.38 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (41335858..41373879, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (41182382..41220403, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of meiotic telomere dynamics through membrane fluidity promoted by AdipoR2-ELOVL2.
Title: Regulation of meiotic telomere dynamics through membrane fluidity promoted by AdipoR2-ELOVL2.
ADIPOR1 deficiency-induced suppression of retinal ELOVL2 and docosahexaenoic acid levels during photoreceptor degeneration and visual loss.
Title: ADIPOR1 deficiency-induced suppression of retinal ELOVL2 and docosahexaenoic acid levels during photoreceptor degeneration and visual loss.
Mapping membrane lipids in the developing and adult mouse retina under physiological and pathological conditions using mass spectrometry.
Title: Mapping membrane lipids in the developing and adult mouse retina under physiological and pathological conditions using mass spectrometry.
The lipid elongation enzyme ELOVL2 is a molecular regulator of aging in the retina.
Title: The lipid elongation enzyme ELOVL2 is a molecular regulator of aging in the retina.
Network-based analysis suggests a role for Elovl2 in glucose-induced insulin secretion. Elovl2 silencing decreased glucose-stimulated insulin secretion in mouse and human beta cell lines.
Title: Molecular phenotyping of multiple mouse strains under metabolic challenge uncovers a role for Elovl2 in glucose-induced insulin secretion.
The proportion of DHA in the liver and serum of the Elovl2(-/-) offspring was significantly lower than in the Elovl2(+/+) offspring. Remarkably, the DHA level in the Elovl2(+/-) offspring nursed by DHA-free-fed Elovl2(-/-) mothers was almost as high as in +/+ pups delivered by +/+ mothers, suggesting that endogenous synthesis in the offspring can compensate for maternal DHA deficiency.
Title: Both maternal and offspring Elovl2 genotypes determine systemic DHA levels in perinatal mice.
Liver docosahexanoic acid synthesis (via ELOVL2), in addition to controlling de novo lipogenesis, also regulates lipid storage and fat mass expansion in an SREBP-1c-independent fashion.
Title: Elovl2 ablation demonstrates that systemic DHA is endogenously produced and is essential for lipid homeostasis in mice.
heterozygous Elovl2(+/-) male mice exhibited haploinsufficiency, with reduced levels of C28:5 and C30:5n-6 PUFAs, which gave rise to impaired formation and function of haploid spermatides.
Title: ELOVL2 controls the level of n-6 28:5 and 30:5 fatty acids in testis, a prerequisite for male fertility and sperm maturation in mice.
ELOVL2 overexpression enhances triacylglycerol synthesis in 3T3-L1 and F442A cells.
Title: ELOVL2 overexpression enhances triacylglycerol synthesis in 3T3-L1 and F442A cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (3) 1 citation

General gene information

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Markers

AI317360 (e-PCR)
- UniSTS:160290

Elovl2 (e-PCR), detects polymorphism
- UniSTS:526074

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acyltransferase activity, transferring groups other than amino-acyl groups	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid elongase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid elongase activity	IDA Inferred from Direct Assay more info	PubMed
enables fatty acid elongase activity	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in fatty acid elongation, monounsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid elongation, polyunsaturated fatty acid	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid elongation, polyunsaturated fatty acid	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty acid elongation, polyunsaturated fatty acid	ISO Inferred from Sequence Orthology more info
involved_in fatty acid elongation, saturated fatty acid	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in sphingolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in very long-chain fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in very long-chain fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very long-chain fatty acid biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within very long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: very long chain fatty acid elongase 2

Names: 3-keto acyl-CoA synthase Elovl2; ELOVL FA elongase 2; ELOVL family member 2; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2; elongation of very long chain fatty acids protein 2; sequence similarity to Cig30 2; very long chain 3-ketoacyl-CoA synthase 2; very long chain 3-oxoacyl-CoA synthase 2

NP_001298050.1

EC 2.3.1.199

NP_062296.1

EC 2.3.1.199

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001311121.1 → NP_001298050.1 very long chain fatty acid elongase 2 isoform 2

See identical proteins and their annotated locations for NP_001298050.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate 5' exon and includes an alternate 5' terminal exon compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC158538, AK014803

Consensus CDS

CCDS79180.1

UniProtKB/TrEMBL

A0A0R4J1P7, X2EXH0

Related

ENSMUSP00000114112.2, ENSMUST00000117096.2

Conserved Domains (1) summary

pfam01151
Location:13 → 247

ELO; GNS1/SUR4 family
NM_019423.2 → NP_062296.1 very long chain fatty acid elongase 2 isoform 1

See identical proteins and their annotated locations for NP_062296.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

BB277808, BB279541, BC098215, BY126714

Consensus CDS

CCDS36639.1

UniProtKB/Swiss-Prot

Q9D5Z2, Q9JLJ4

UniProtKB/TrEMBL

Q543J1, X2EXH0

Related

ENSMUSP00000021793.8, ENSMUST00000021793.15

Conserved Domains (1) summary

pfam01151
Location:30 → 264

ELO; GNS1/SUR4 family