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Elovl4 Gene Detail
Summary
  • Symbol
    Elovl4
  • Name
    elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1933331
    NCBI Gene: 83603
  • Gene Overview
    MyGene.info: ELOVL4
Location & Maps
more
  • Sequence Map
    Chr9:83778692-83806277 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27586 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 45.60 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ELOVL4, ELOVL fatty acid elongase 4
  • Vertebrate Orthologs
    12
  • Human Ortholog
    ELOVL4, ELOVL fatty acid elongase 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADMD, CT118, ISQMR, SCA34, STGD2, STGD3
  • Links
    NCBI Gene ID: 6785
    neXtProt AC: NX_Q9GZR5

  • Chr Location
    6q14.1; chr6:79914812-79947598 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 41488
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;3 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ELOVL4
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Elovl4 mouse models

Human Disease Mouse Models
       Stargardt Disease 3; STGD3   OMIM: 600110 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 6 alleles in 8 genetic backgrounds
    18 phenotypes from multigenic genotypes
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    16
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    9
  • Transgenic
    5
  • Genomic Mutations
    1 involving Elovl4
  • Incidental Mutations
Mice homozygous for a null allele die before or around birth. Mice heterozygous for a null allele breed poorly and display mild retinal abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044946 VEGA Gene Model | MGI Sequence Detail 27586 C57BL/6J ±  kb
transcript OTTMUST00000118122 VEGA | MGI Sequence Detail 3001 Not Applicable  
polypeptide OTTMUSP00000065959 VEGA | MGI Sequence Detail 312 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    326 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 26
    cDNA 26

    Microarray probesets 4
References
more
  • Summaries
    All 48
    Developmental Gene Expression 6
    Diseases 7
    Gene Ontology 6
    Phenotypes 28
  • Earliest
    J:66736 Zhang K, et al., A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet. 2001 Jan;27(1):89-93
  • Latest
    J:229874 Bennett LD, et al., Effect of reduced retinal VLC-PUFA on rod and cone photoreceptors. Invest Ophthalmol Vis Sci. 2014 May;55(5):3150-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory