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Elovl4 Gene Detail
Summary
  • Symbol
    Elovl4
  • Name
    ELOVL fatty acid elongase 4
  • Synonyms
    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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:83660745-83688330 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 45.60 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    898 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1933331
 protein coding gene Chr9:83660745-83688358 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035088
 protein coding gene Chr9:84464123-84498252 (-)
A/J MGP_AJ_G0035069
 protein coding gene Chr9:81540664-81568654 (-)
AKR/J MGP_AKRJ_G0034997
 protein coding gene Chr9:83451385-83479934 (-)
BALB/cJ MGP_BALBcJ_G0035057
 protein coding gene Chr9:81202704-81229957 (-)
C3H/HeJ MGP_C3HHeJ_G0034769
 protein coding gene Chr9:83980475-84007810 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035580
 protein coding gene Chr9:86784253-86813738 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032488
 protein coding gene Chr9:80452944-80481064 (-)
CAST/EiJ MGP_CASTEiJ_G0034087
 protein coding gene Chr9:84383394-84412932 (-)
CBA/J MGP_CBAJ_G0034742
 protein coding gene Chr9:89892870-89923420 (-)
DBA/2J MGP_DBA2J_G0034900
 protein coding gene Chr9:81127477-81158203 (-)
FVB/NJ MGP_FVBNJ_G0034843
 protein coding gene Chr9:80259207-80286645 (-)
LP/J MGP_LPJ_G0034981
 protein coding gene Chr9:84675829-84707012 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034885
 protein coding gene Chr9:91306246-91336600 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035601
 protein coding gene Chr9:83628450-83658592 (-)
PWK/PhJ MGP_PWKPhJ_G0033791
 protein coding gene Chr9:81288101-81317747 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033627
 protein coding gene Chr9:83775130-83803825 (-)
WSB/EiJ MGP_WSBEiJ_G0034204
 protein coding gene Chr9:83617950-83647204 (-)



Homology
more
  • Human Ortholog
    ELOVL4, ELOVL fatty acid elongase 4
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ELOVL4, ELOVL fatty acid elongase 4
  • Synonyms
    ADMD, CT118, ISQMR, SCA34, STGD2, STGD3
  • Links
    NCBI Gene ID: 6785
    neXtProt AC: NX_Q9GZR5
    UniProt: Q9GZR5

  • Chr Location
    6q14.1; chr6:79914814-79947553 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Elovl4 mouse models; 2 with human ELOVL4 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    43 phenotypes from 6 alleles in 8 genetic backgrounds
    18 phenotypes from multigenic genotypes
    29 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.
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
less
  • All GO Annotations
    21
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    832
  • Tissues
    39
  • cDNA Data
    29
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032262 Ensembl Gene Model | MGI Sequence Detail 27586 C57BL/6J ±  kb
    transcript ENSMUST00000034796 Ensembl | MGI Sequence Detail 3001 Not Applicable  
    polypeptide ENSMUSP00000034796 Ensembl | MGI Sequence Detail 312 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      cDNA 32
      Primer pair 6

      Microarray probesets 4
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 12
      Diseases 4
      Gene Ontology 6
      Phenotypes 29
    • 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:346053 Zhang J, et al., Regulation of meiotic telomere dynamics through membrane fluidity promoted by AdipoR2-ELOVL2. Nat Commun. 2024 Mar 14;15(1):2315
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory