Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54898
Gene name	ELOVL fatty acid elongase 2
Gene symbol	ELOVL2
Synonyms (NCBI Gene)	SSC2
Chromosome	6
Chromosome location	6p24.2

165

Show/Hide all (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
MIRT961178	hsa-let-7c	CLIP-seq
MIRT961179	hsa-let-7d	CLIP-seq
MIRT961180	hsa-let-7e	CLIP-seq
MIRT961181	hsa-let-7f	CLIP-seq
MIRT961182	hsa-let-7g	CLIP-seq
MIRT961183	hsa-let-7i	CLIP-seq
MIRT961184	hsa-miR-1225-5p	CLIP-seq
MIRT961185	hsa-miR-1258	CLIP-seq
MIRT961186	hsa-miR-1273g	CLIP-seq
MIRT961187	hsa-miR-140-5p	CLIP-seq
MIRT961188	hsa-miR-181a	CLIP-seq
MIRT961189	hsa-miR-181b	CLIP-seq
MIRT961190	hsa-miR-181c	CLIP-seq
MIRT961191	hsa-miR-181d	CLIP-seq
MIRT961192	hsa-miR-202	CLIP-seq
MIRT961193	hsa-miR-22	CLIP-seq
MIRT961194	hsa-miR-3200-5p	CLIP-seq
MIRT961195	hsa-miR-323b-5p	CLIP-seq
MIRT961196	hsa-miR-34c-3p	CLIP-seq
MIRT961197	hsa-miR-3613-3p	CLIP-seq
MIRT961198	hsa-miR-374c	CLIP-seq
MIRT961199	hsa-miR-3908	CLIP-seq
MIRT961200	hsa-miR-3919	CLIP-seq
MIRT961201	hsa-miR-3942-5p	CLIP-seq
MIRT961202	hsa-miR-3978	CLIP-seq
MIRT961203	hsa-miR-4262	CLIP-seq
MIRT961204	hsa-miR-4265	CLIP-seq
MIRT961205	hsa-miR-4296	CLIP-seq
MIRT961206	hsa-miR-4312	CLIP-seq
MIRT961207	hsa-miR-4314	CLIP-seq
MIRT961208	hsa-miR-4322	CLIP-seq
MIRT961209	hsa-miR-4433	CLIP-seq
MIRT961210	hsa-miR-4457	CLIP-seq
MIRT961211	hsa-miR-4458	CLIP-seq
MIRT961212	hsa-miR-4459	CLIP-seq
MIRT961213	hsa-miR-4500	CLIP-seq
MIRT961214	hsa-miR-455-5p	CLIP-seq
MIRT961215	hsa-miR-4643	CLIP-seq
MIRT961216	hsa-miR-4648	CLIP-seq
MIRT961217	hsa-miR-4649-3p	CLIP-seq
MIRT961218	hsa-miR-4654	CLIP-seq
MIRT961219	hsa-miR-466	CLIP-seq
MIRT961220	hsa-miR-4703-5p	CLIP-seq
MIRT961221	hsa-miR-4756-3p	CLIP-seq
MIRT961222	hsa-miR-4766-3p	CLIP-seq
MIRT961223	hsa-miR-4768-3p	CLIP-seq
MIRT961224	hsa-miR-4769-5p	CLIP-seq
MIRT961225	hsa-miR-4773	CLIP-seq
MIRT961226	hsa-miR-4789-3p	CLIP-seq
MIRT961227	hsa-miR-498	CLIP-seq
MIRT961228	hsa-miR-5096	CLIP-seq
MIRT961229	hsa-miR-513a-3p	CLIP-seq
MIRT961230	hsa-miR-513b	CLIP-seq
MIRT961231	hsa-miR-524-3p	CLIP-seq
MIRT961232	hsa-miR-525-3p	CLIP-seq
MIRT961233	hsa-miR-548c-3p	CLIP-seq
MIRT961234	hsa-miR-548l	CLIP-seq
MIRT961235	hsa-miR-549	CLIP-seq
MIRT961236	hsa-miR-622	CLIP-seq
MIRT961237	hsa-miR-655	CLIP-seq
MIRT961238	hsa-miR-656	CLIP-seq
MIRT961239	hsa-miR-935	CLIP-seq
MIRT961240	hsa-miR-98	CLIP-seq
MIRT1984823	hsa-miR-105	CLIP-seq
MIRT1984824	hsa-miR-1244	CLIP-seq
MIRT1984825	hsa-miR-1245b-3p	CLIP-seq
MIRT1984826	hsa-miR-1264	CLIP-seq
MIRT1984827	hsa-miR-128	CLIP-seq
MIRT1984828	hsa-miR-1299	CLIP-seq
MIRT1984829	hsa-miR-132	CLIP-seq
MIRT1984830	hsa-miR-1913	CLIP-seq
MIRT1984831	hsa-miR-194	CLIP-seq
MIRT1984832	hsa-miR-212	CLIP-seq
MIRT1984833	hsa-miR-27a	CLIP-seq
MIRT1984834	hsa-miR-27b	CLIP-seq
MIRT1984835	hsa-miR-3120-5p	CLIP-seq
MIRT1984836	hsa-miR-3125	CLIP-seq
MIRT1984837	hsa-miR-3126-3p	CLIP-seq
MIRT1984838	hsa-miR-3140-5p	CLIP-seq
MIRT1984839	hsa-miR-3162-5p	CLIP-seq
MIRT1984840	hsa-miR-3174	CLIP-seq
MIRT1984841	hsa-miR-324-3p	CLIP-seq
MIRT1984842	hsa-miR-361-3p	CLIP-seq
MIRT1984843	hsa-miR-3662	CLIP-seq
MIRT1984844	hsa-miR-3684	CLIP-seq
MIRT1984845	hsa-miR-377	CLIP-seq
MIRT1984846	hsa-miR-378	CLIP-seq
MIRT1984847	hsa-miR-378b	CLIP-seq
MIRT1984848	hsa-miR-378c	CLIP-seq
MIRT1984849	hsa-miR-378d	CLIP-seq
MIRT1984850	hsa-miR-378e	CLIP-seq
MIRT1984851	hsa-miR-378f	CLIP-seq
MIRT1984852	hsa-miR-378h	CLIP-seq
MIRT1984853	hsa-miR-378i	CLIP-seq
MIRT1984854	hsa-miR-3916	CLIP-seq
MIRT1984855	hsa-miR-3920	CLIP-seq
MIRT1984856	hsa-miR-3928	CLIP-seq
MIRT1984857	hsa-miR-3943	CLIP-seq
MIRT961202	hsa-miR-3978	CLIP-seq
MIRT1984858	hsa-miR-422a	CLIP-seq
MIRT1984859	hsa-miR-4261	CLIP-seq
MIRT1984860	hsa-miR-4263	CLIP-seq
MIRT1984861	hsa-miR-4419a	CLIP-seq
MIRT1984862	hsa-miR-4481	CLIP-seq
MIRT1984863	hsa-miR-4510	CLIP-seq
MIRT1984864	hsa-miR-4638-3p	CLIP-seq
MIRT1984865	hsa-miR-4641	CLIP-seq
MIRT961215	hsa-miR-4643	CLIP-seq
MIRT961217	hsa-miR-4649-3p	CLIP-seq
MIRT961219	hsa-miR-466	CLIP-seq
MIRT1984866	hsa-miR-4680-3p	CLIP-seq
MIRT1984867	hsa-miR-4687-3p	CLIP-seq
MIRT1984868	hsa-miR-4694-3p	CLIP-seq
MIRT1984869	hsa-miR-4727-5p	CLIP-seq
MIRT1984870	hsa-miR-4729	CLIP-seq
MIRT1984871	hsa-miR-4745-5p	CLIP-seq
MIRT1984872	hsa-miR-4758-5p	CLIP-seq
MIRT1984873	hsa-miR-4762-3p	CLIP-seq
MIRT961226	hsa-miR-4789-3p	CLIP-seq
MIRT1984874	hsa-miR-4789-5p	CLIP-seq
MIRT1984875	hsa-miR-4792	CLIP-seq
MIRT1984876	hsa-miR-521	CLIP-seq
MIRT961236	hsa-miR-622	CLIP-seq
MIRT1984877	hsa-miR-642b	CLIP-seq
MIRT1984878	hsa-miR-802	CLIP-seq
MIRT1984879	hsa-miR-875-3p	CLIP-seq
MIRT1984880	hsa-miR-9	CLIP-seq
MIRT1984881	hsa-miR-921	CLIP-seq
MIRT2219712	hsa-miR-103a	CLIP-seq
MIRT2219713	hsa-miR-107	CLIP-seq
MIRT1984825	hsa-miR-1245b-3p	CLIP-seq
MIRT1984829	hsa-miR-132	CLIP-seq
MIRT2219714	hsa-miR-15a	CLIP-seq
MIRT2219715	hsa-miR-15b	CLIP-seq
MIRT2219716	hsa-miR-16	CLIP-seq
MIRT2219717	hsa-miR-195	CLIP-seq
MIRT1984832	hsa-miR-212	CLIP-seq
MIRT1984839	hsa-miR-3162-5p	CLIP-seq
MIRT2219718	hsa-miR-338-3p	CLIP-seq
MIRT961200	hsa-miR-3919	CLIP-seq
MIRT2219719	hsa-miR-3929	CLIP-seq
MIRT2219720	hsa-miR-424	CLIP-seq
MIRT1984859	hsa-miR-4261	CLIP-seq
MIRT2219721	hsa-miR-4329	CLIP-seq
MIRT1984861	hsa-miR-4419a	CLIP-seq
MIRT2219722	hsa-miR-4419b	CLIP-seq
MIRT2219723	hsa-miR-4478	CLIP-seq
MIRT1984863	hsa-miR-4510	CLIP-seq
MIRT2219724	hsa-miR-4530	CLIP-seq
MIRT961221	hsa-miR-4756-3p	CLIP-seq
MIRT2219725	hsa-miR-4786-5p	CLIP-seq
MIRT1984874	hsa-miR-4789-5p	CLIP-seq
MIRT2219726	hsa-miR-497	CLIP-seq
MIRT2219727	hsa-miR-501-3p	CLIP-seq
MIRT2219728	hsa-miR-502-3p	CLIP-seq
MIRT961228	hsa-miR-5096	CLIP-seq
MIRT2219729	hsa-miR-570	CLIP-seq
MIRT2219730	hsa-miR-607	CLIP-seq
MIRT2219731	hsa-miR-645	CLIP-seq
MIRT2219732	hsa-miR-769-5p	CLIP-seq

Show/Hide all (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
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0009922	Function	Fatty acid elongase activity	EXP	10970790
GO:0009922	Function	Fatty acid elongase activity	IBA
GO:0009922	Function	Fatty acid elongase activity	IDA	12371743
GO:0009922	Function	Fatty acid elongase activity	IEA
GO:0009922	Function	Fatty acid elongase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IBA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IBA
GO:0030497	Process	Fatty acid elongation	IEA
GO:0034625	Process	Fatty acid elongation, monounsaturated fatty acid	IBA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IBA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IDA	12371743, 20937905
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	IEA
GO:0035338	Process	Long-chain fatty-acyl-CoA biosynthetic process	TAS
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IBA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IDA	12371743, 20937905
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IEA
GO:0043651	Process	Linoleic acid metabolic process	IEA
GO:0043651	Process	Linoleic acid metabolic process	TAS
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
611814	14416	ENSG00000197977

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

MEHLKAFDDEINAFLDNMFGPRDSRVRGWFMLDSYLPTFFLTVMYLLSIWLGNKYMKNRP
ALSLRGILTLYNLGITLLSAYMLAELILSTWEGGYNLQCQDLTSAGEADIRVAKVLWWYY
FSKSVEFLDTIFFVLRKKTSQITFLHVYHHASMFNIWWCVLNWIPCGQSFFGPTLNSFIH
ILMYSYYGLSVFPSMHKYLWWKKYLTQAQLVQFVLTITHTMSAVVKPCGFPFGCLIFQSS
YMLTLVILFLNFYVQTYRKKPMKKDMQEPPAGKEVKNGFSKAYFTAANGVMNKKAQ

Sequence length

296

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
INFERTILITY, MALE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	23555103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32233750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	35853630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	33015181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30180836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30180836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30180836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27788154, 32420379, 33727952, 35441059, 37908128, 39201283, 39456830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23317196	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34841437	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASCAT_DG	29545352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21917437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35607770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31201181, 31481405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35331339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31201181, 31481405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31481405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34573317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29545352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	34841437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23317196		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30734280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30734280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	30734280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	35445910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22293571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29030588, 31255630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19265796, 26213922, 32584610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31698312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35441059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ELOVL2 (ELOVL fatty acid elongase 2)