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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6785
Gene name	ELOVL fatty acid elongase 4
Gene symbol	ELOVL4
Synonyms (NCBI Gene)	ADMDCT118ISQMRSCA34STGD2STGD3
Chromosome	6
Chromosome location	6q14.1
Summary	This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893946	G>C	Pathogenic	Coding sequence variant, stop gained
rs199860277	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906916	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs587776613	AGTTA>GTT	Pathogenic	Frameshift variant, coding sequence variant
rs587777598	C>G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs746047636	G>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs1057524307	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131690770	TTAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131690772	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131692036	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1554162178	C>T	Likely-pathogenic	Splice donor variant
rs1554162301	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554162524	T>C	Likely-pathogenic	Splice acceptor variant
rs1561982219	C>T	Pathogenic	Splice acceptor variant
rs1582043186	->A	Likely-pathogenic	Stop gained, coding sequence variant

122

Show/Hide all (122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030702	hsa-miR-21-5p	Microarray	18591254
MIRT031100	hsa-miR-19b-3p	Sequencing	20371350
MIRT048019	hsa-miR-30c-5p	CLASH	23622248
MIRT046167	hsa-miR-30b-5p	CLASH	23622248
MIRT658717	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT658716	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT658715	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT658714	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT658713	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT658712	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT658711	hsa-miR-7702	HITS-CLIP	23824327
MIRT658717	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT658716	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT658715	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT658714	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT658713	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT658712	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT658711	hsa-miR-7702	HITS-CLIP	23824327
MIRT961244	hsa-miR-128	CLIP-seq
MIRT961245	hsa-miR-191	CLIP-seq
MIRT961246	hsa-miR-199a-3p	CLIP-seq
MIRT961247	hsa-miR-199b-3p	CLIP-seq
MIRT961248	hsa-miR-2116	CLIP-seq
MIRT961249	hsa-miR-218	CLIP-seq
MIRT961250	hsa-miR-2355-5p	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT961252	hsa-miR-3129-5p	CLIP-seq
MIRT961253	hsa-miR-323-3p	CLIP-seq
MIRT961254	hsa-miR-3679-3p	CLIP-seq
MIRT961255	hsa-miR-3935	CLIP-seq
MIRT961256	hsa-miR-4282	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT961258	hsa-miR-4432	CLIP-seq
MIRT961259	hsa-miR-4457	CLIP-seq
MIRT961260	hsa-miR-4662a-3p	CLIP-seq
MIRT961261	hsa-miR-4677-5p	CLIP-seq
MIRT961262	hsa-miR-4704-3p	CLIP-seq
MIRT961263	hsa-miR-4775	CLIP-seq
MIRT961264	hsa-miR-513b	CLIP-seq
MIRT961265	hsa-miR-577	CLIP-seq
MIRT961266	hsa-miR-590-3p	CLIP-seq
MIRT961267	hsa-miR-891b	CLIP-seq
MIRT961268	hsa-miR-936	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT1984883	hsa-miR-3591-3p	CLIP-seq
MIRT2219734	hsa-miR-1208	CLIP-seq
MIRT2219735	hsa-miR-1238	CLIP-seq
MIRT2219736	hsa-miR-1301	CLIP-seq
MIRT2219737	hsa-miR-194	CLIP-seq
MIRT1984883	hsa-miR-3591-3p	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT2219738	hsa-miR-4520a-3p	CLIP-seq
MIRT2219739	hsa-miR-4520b-3p	CLIP-seq
MIRT2219740	hsa-miR-4529-3p	CLIP-seq
MIRT2219741	hsa-miR-4643	CLIP-seq
MIRT2219742	hsa-miR-466	CLIP-seq
MIRT2219743	hsa-miR-4660	CLIP-seq
MIRT2219744	hsa-miR-4713-5p	CLIP-seq
MIRT2219745	hsa-miR-4789-3p	CLIP-seq
MIRT2219746	hsa-miR-5047	CLIP-seq
MIRT2219747	hsa-miR-505	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2219749	hsa-miR-873	CLIP-seq
MIRT2448798	hsa-miR-1243	CLIP-seq
MIRT2448799	hsa-miR-3175	CLIP-seq
MIRT2448800	hsa-miR-4716-3p	CLIP-seq
MIRT2448801	hsa-miR-4723-5p	CLIP-seq
MIRT2448802	hsa-miR-4764-5p	CLIP-seq
MIRT2523263	hsa-miR-105	CLIP-seq
MIRT2523264	hsa-miR-1251	CLIP-seq
MIRT961244	hsa-miR-128	CLIP-seq
MIRT2523265	hsa-miR-129-5p	CLIP-seq
MIRT2523266	hsa-miR-133a	CLIP-seq
MIRT2523267	hsa-miR-133b	CLIP-seq
MIRT2523268	hsa-miR-145	CLIP-seq
MIRT961250	hsa-miR-2355-5p	CLIP-seq
MIRT2523269	hsa-miR-23a	CLIP-seq
MIRT2523270	hsa-miR-23b	CLIP-seq
MIRT2523271	hsa-miR-23c	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT2523272	hsa-miR-3140-3p	CLIP-seq
MIRT2523273	hsa-miR-3180-5p	CLIP-seq
MIRT2523274	hsa-miR-325	CLIP-seq
MIRT2523275	hsa-miR-3613-3p	CLIP-seq
MIRT2523276	hsa-miR-3653	CLIP-seq
MIRT2523277	hsa-miR-3658	CLIP-seq
MIRT2523278	hsa-miR-3671	CLIP-seq
MIRT961254	hsa-miR-3679-3p	CLIP-seq
MIRT2523279	hsa-miR-3685	CLIP-seq
MIRT2523280	hsa-miR-384	CLIP-seq
MIRT2523281	hsa-miR-4272	CLIP-seq
MIRT961257	hsa-miR-4286	CLIP-seq
MIRT2523282	hsa-miR-4433	CLIP-seq
MIRT2523283	hsa-miR-4684-5p	CLIP-seq
MIRT2523284	hsa-miR-4719	CLIP-seq
MIRT2523285	hsa-miR-4768-5p	CLIP-seq
MIRT2523286	hsa-miR-496	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2523287	hsa-miR-607	CLIP-seq
MIRT2523288	hsa-miR-628-3p	CLIP-seq
MIRT2523289	hsa-miR-653	CLIP-seq
MIRT2523290	hsa-miR-664	CLIP-seq
MIRT2523265	hsa-miR-129-5p	CLIP-seq
MIRT2523266	hsa-miR-133a	CLIP-seq
MIRT2523267	hsa-miR-133b	CLIP-seq
MIRT2523268	hsa-miR-145	CLIP-seq
MIRT2523269	hsa-miR-23a	CLIP-seq
MIRT2523270	hsa-miR-23b	CLIP-seq
MIRT2523271	hsa-miR-23c	CLIP-seq
MIRT961251	hsa-miR-3124-3p	CLIP-seq
MIRT2523272	hsa-miR-3140-3p	CLIP-seq
MIRT2523273	hsa-miR-3180-5p	CLIP-seq
MIRT2523276	hsa-miR-3653	CLIP-seq
MIRT2523277	hsa-miR-3658	CLIP-seq
MIRT2523279	hsa-miR-3685	CLIP-seq
MIRT2523280	hsa-miR-384	CLIP-seq
MIRT2679954	hsa-miR-4666-5p	CLIP-seq
MIRT2523285	hsa-miR-4768-5p	CLIP-seq
MIRT2219748	hsa-miR-511	CLIP-seq
MIRT2523289	hsa-miR-653	CLIP-seq
MIRT2679955	hsa-miR-656	CLIP-seq
MIRT2523290	hsa-miR-664	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20937905, 32296183
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	IDA	16036915
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	NAS	11138005
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0008020	Function	G protein-coupled photoreceptor activity	NAS	11138005
GO:0009584	Process	Detection of visible light	IEA
GO:0009922	Function	Fatty acid elongase activity	IBA
GO:0009922	Function	Fatty acid elongase activity	IEA
GO:0009922	Function	Fatty acid elongase activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IBA
GO:0019367	Process	Fatty acid elongation, saturated fatty acid	IDA	20937905
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	IEA
GO:0034626	Process	Fatty acid elongation, polyunsaturated fatty acid	ISS
GO:0035338	Process	Long-chain fatty-acyl-CoA 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	20937905
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	IEA
GO:0042761	Process	Very long-chain fatty acid biosynthetic process	ISS

MIM	HGNC	e!Ensembl
605512	14415	ENSG00000118402

Q9GZR5

Protein name

Very long chain fatty acid elongase 4 (EC 2.3.1.199) (3-keto acyl-CoA synthase ELOVL4) (ELOVL fatty acid elongase 4) (ELOVL FA elongase 4) (Elongation of very long chain fatty acids protein 4) (Very long chain 3-ketoacyl-CoA synthase 4) (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	41 → 278	GNS1/SUR4 family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates. {ECO:000026

Sequence

MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFV
WLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVH
EVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQ
AFFGAQLNSFIHVIMYSYYGLTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTD
CPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI
ENGKKQKNGKAKGD

Sequence length

314

Interactions

View interactions

	KEGG
	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism

129

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Pathogenic; Likely pathogenic	rs587777598, rs387906916, rs1131690772, rs1554162524, rs1554162301, rs1561982219, rs746047636	RCV002483274 RCV000023451 RCV000023452 RCV000497810 RCV005034041 RCV000679978 RCV000679977
ELOVL4-related ataxia	Likely pathogenic	rs2532974649	RCV003329562
ELOVL4-related disorder	Pathogenic; Likely pathogenic	rs587777598, rs1554162524	RCV003479020 RCV002307524
Retinal dystrophy	Pathogenic	rs1131690770	RCV001074586
Spastic ataxia	Likely pathogenic	rs2127698054	RCV001647218
Spinocerebellar ataxia type 34	Pathogenic; Likely pathogenic	rs587777598, rs1131692036, rs1554162301	RCV000132563 RCV000494690 RCV000504460
Stargardt disease 3	Pathogenic; Likely pathogenic	rs587777598, rs1131690770, rs587776613, rs104893946, rs1554162301	RCV002483274 RCV000005226 RCV000005227 RCV000005228 RCV005034041

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Stargardt disease	Uncertain significance	rs1488892121	RCV005863460
Stargardt Disease, Dominant	Uncertain significance; Benign; Likely benign	rs886061797, rs140197858, rs550447949, rs886061808, rs538376275, rs778819767, rs343705, rs559131282	RCV000311984 RCV000267283 RCV000396904 RCV000368902 RCV000274320 RCV000334157 RCV000298970 RCV000300064

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Stimulate	39794751
Agenesis of Corpus Callosum	Associate	37592902
Arteriolosclerosis	Associate	35156446
Atrophy	Associate	37568198, 37592902
Chanarin Dorfman Syndrome	Associate	22100072, 24571530, 37568198
Choroidal Neovascularization	Associate	34073554
Colorectal Neoplasms	Associate	24393480, 30446877
Cone Rod Dystrophies	Associate	25082885
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	37592902
Demyelinating Diseases	Associate	37592902
Developmental Disabilities	Associate	37592902
Diffuse Neurofibrillary Tangles with Calcification	Associate	34689836
Dysarthria	Associate	37568198
Epilepsy	Associate	37592902
Erythema	Associate	33652762
Erythrokeratodermia Variabilis	Associate	36464075, 37568198
Facial Dysmorphism with Multiple Malformations	Associate	33652762
Failure to Thrive	Associate	33652762
Frontotemporal Dementia	Associate	34725421
Gait Ataxia	Associate	37568198
Glomerulonephritis Membranous	Associate	33652762
Head and Neck Neoplasms	Associate	33652762
Hyperkeratosis Epidermolytic	Associate	33652762
Ichthyosis	Associate	22100072, 24571530, 33652762, 37592902
Intellectual Disability	Associate	22100072, 24571530, 33652762, 37592902
Keratoderma Palmoplantar	Associate	33652762
Lamellar ichthyosis type 3	Associate	37592902
Lymphoma Large B Cell Diffuse	Inhibit	37976136
Macular Degeneration	Associate	15930014, 16885922, 37568198
Macular Dystrophy Retinal 2	Associate	33988224
Multiple Pterygium Syndrome Autosomal Dominant	Associate	37592902
Muscle Hypertonia	Associate	33652762, 37592902
Muscle Hypotonia	Associate	33652762
Muscle Spasticity	Associate	22100072
Neoplasms	Associate	18535405
Nerve Degeneration	Associate	34689836
Neurodegenerative Diseases	Associate	34725421
Pancreatic Neoplasms	Associate	18535405
Protein Losing Enteropathies	Associate	15930014
Quadriplegia	Associate	22100072, 24571530, 33652762, 37592902
Respiratory Aspiration	Associate	33652762
Retinal Diseases	Associate	22100072, 37568198
Seizures	Associate	22100072, 37568198
Sjogren Larsson Syndrome	Associate	22100072
Skin Diseases	Associate	37568198
Spinocerebellar Ataxias	Associate	33652762, 34689836, 36464075, 37568198, 37592902
Spinocerebellar Degenerations	Associate	37568198
Stargardt Disease	Associate	10486215, 27813578, 28050124, 33988224, 34073554
Stargardt disease 3	Associate	16364203, 29377748, 33652762, 36464075, 37568198, 37592902
Urinary Bladder Neoplasms	Associate	39368544
Vacuolar myopathy	Associate	34689836

ELOVL4 (ELOVL fatty acid elongase 4)