Gene Gene information from NCBI Gene database.
Entrez ID 54898
Gene name ELOVL fatty acid elongase 2
Gene symbol ELOVL2
Synonyms (NCBI Gene)
SSC2
Chromosome 6
Chromosome location 6p24.2
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT025624 hsa-miR-10a-5p Sequencing 20371350
MIRT029052 hsa-miR-26b-5p Microarray 19088304
MIRT050775 hsa-miR-17-3p CLASH 23622248
MIRT961176 hsa-let-7a CLIP-seq
MIRT961177 hsa-let-7b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000038 Process Very long-chain fatty acid metabolic process IEA
GO:0005515 Function Protein binding IPI 20937905, 32296183, 38422897
GO:0005783 Component Endoplasmic reticulum IDA 20937905
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611814 14416 ENSG00000197977
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NXB9
Protein name Very long chain fatty acid elongase 2 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL2) (ELOVL fatty acid elongase 2) (ELOVL FA elongase 2) (Elongation of very long chain fatty acids protein 2) (Very long chain 3-ketoacyl-CoA synthase 2) (Very long chain 3
Protein function Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01151 ELO 30 265 GNS1/SUR4 family Family
Tissue specificity TISSUE SPECIFICITY: Liver and testis. {ECO:0000269|PubMed:20937905}.
Sequence
Sequence length 296
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fatty acid elongation
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
  Linoleic acid (LA) metabolism
alpha-linolenic acid (ALA) metabolism
Synthesis of very long-chain fatty acyl-CoAs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid cancer, nonmedullary, 1 Uncertain significance rs768479188 RCV005928814
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 23555103
Adenocarcinoma of Lung Stimulate 39794751
Alzheimer Disease Associate 32233750
Amyotrophic lateral sclerosis 1 Associate 35853630
Atrial Fibrillation Associate 33015181
Autism Spectrum Disorder Associate 30180836
Autistic Disorder Associate 30180836
Breast Neoplasms Associate 27788154, 32420379, 33727952, 35441059, 37908128, 39201283, 39456830
Carcinoma Hepatocellular Associate 23317196
Carcinoma Renal Cell Stimulate 34841437