ELOVL4 (ELOVL fatty acid elongase 4)

2014-11-01  

Identity

HGNC
ELOVL4
LOCATION
6q14.1
LOCUSID
6785
ALIAS
ADMD,CT118,ISQMR,SCA34,STGD2,STGD3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6785
MIM: 605512
HGNC: 14415
Ensembl: ENSG00000118402

Variants:

dbSNP: 6785
ClinVar: 6785
TCGA: ENSG00000118402
COSMIC: ELOVL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118402ENST00000369816Q9GZR5

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Fatty acid elongationKEGGhsa00062
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGhsa_M00415
Fatty acid biosynthesis, elongation, endoplasmic reticulumKEGGM00415
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Synthesis of very long-chain fatty acyl-CoAsREACTOMER-HSA-75876

References

Pubmed IDYearTitleCitations
159300142005Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy.57
170007052006CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.52
173565132007Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.50
160369152005Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.47
221000722011Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.47
172108512007Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration.44
205225232010Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.43
150282842004Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.31
168859222006Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.21
168859222006Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.21

Citation

Dessen P

ELOVL4 (ELOVL fatty acid elongase 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62804/elovl4-(elovl-fatty-acid-elongase-4)