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ELOVL4 Gene

protein-coding   GIFtS: 61
GCID: GC06M080624

ELOVL Fatty Acid Elongase 4

(Previous names: elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3,...)
(Previous symbols: STGD2, STGD3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ELOVL Fatty Acid Elongase 41 2 3     ELOVL FA Elongase 42 3
STGD21 2 5     ADMD2 5
STGD31 2 5     ISQMR2 5
Elongation Of Very Long Chain Fatty Acids (FEN1/Elo2, SUR4/Elo3,
Yeast)-Like 41 2
     CT1182
Cancer/Testis Antigen 1181 2     Elongation Of Very Long Chain Fatty Acids Protein 42
Very-Long-Chain 3-Oxoacyl-CoA Synthase 42 3     Stargardt Disease 3 (Autosomal Dominant)2
3-Keto Acyl-CoA Synthase ELOVL42 3     EC 2.3.1.1993

External Ids:    HGNC: 144151   Entrez Gene: 67852   Ensembl: ENSG000001184027   OMIM: 6055125   UniProtKB: Q9GZR53   

Export aliases for ELOVL4 gene to outside databases

Previous GC identifers: GC06M080567 GC06M080620 GC06M080681 GC06M077847


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ELOVL4 Gene:
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 deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3)
and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic
macular degeneration. (provided by RefSeq, Jul 2008)

GeneCards Summary for ELOVL4 Gene:
ELOVL4 (ELOVL fatty acid elongase 4) is a protein-coding gene. Diseases associated with ELOVL4 include benign concentric annular macular dystrophy, and macular dystrophy, autosomal dominant, chromosome 6-linked. GO annotations related to this gene include transferase activity and G-protein coupled photoreceptor activity. An important paralog of this gene is ELOVL7.

UniProtKB/Swiss-Prot: ELOV4_HUMAN, Q9GZR5
Function: Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs).
Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor-specific component of the fatty acid
elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA)
biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of
three elongation steps. May play a critical role in early brain and skin development

Gene Wiki entry for ELOVL4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ELOVL4 gene promoter:
         AhR   Pax-5   MAZR   AML1a   ATF-2   Arnt   AREB6   MZF-1   c-Myb   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidELOVL4 promoter sequence
   Search Chromatin IP Primers for ELOVL4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ELOVL4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q14   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14

ELOVL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ELOVL4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M080624:  view genomic region     (about GC identifiers)

Start:
80,624,529 bp from pter      End:
80,657,315 bp from pter
Size:
32,787 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ELOV4_HUMAN, Q9GZR5 (See protein sequence)
Recommended Name: Elongation of very long chain fatty acids protein 4  
Size: 314 amino acids; 36829 Da
Subunit: Oligomer
Secondary accessions: B2R6B5 Q5TCS2 Q86YJ1 Q9H139

Explore the universe of human proteins at neXtProt for ELOVL4: NX_Q9GZR5

Explore proteomics data for ELOVL4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn20
  • Modification sites at PhosphoSitePlus

  • See ELOVL4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073563.1  
    ENSEMBL proteins: 
     ENSP00000358831  
    Reactome Protein details: Q9GZR5

    ELOVL4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR002076 GNS1_SUR4

    Graphical View of Domain Structure for InterPro Entry Q9GZR5

    ProtoNet protein and cluster: Q9GZR5

    1 Blocks protein domain: IPB002076 GNS1/SUR4 membrane protein

    UniProtKB/Swiss-Prot: ELOV4_HUMAN, Q9GZR5
    Domain: The di-lysine motif may confer endoplasmic reticulum localization (By similarity)
    Similarity: Belongs to the ELO family


    ELOVL4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ELOV4_HUMAN, Q9GZR5
    Function: Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs).
    Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor-specific component of the fatty acid
    elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA)
    biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of
    three elongation steps. May play a critical role in early brain and skin development
    Catalytic activity: A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO(2)

         Enzyme Number (IUBMB): EC 2.3.1.1991

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008020G-protein coupled photoreceptor activity NAS11138005
    GO:0016740transferase activity IEA--
         
    ELOVL4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ELOVL4:
     Increased gamma-H2AX phosphory 

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Elovl4):
     behavior/neurological  growth/size/body  hematopoietic system  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  nervous system  pigmentation  reproductive system 
     vision/eye 

    ELOVL4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ELOVL4: Elovl4tm1Kzh Elovl4tm1Rayy

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ELOVL4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ELOVL4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ELOVL4

    miRNA
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    miRTarBase miRNAs that target ELOVL4:
    hsa-mir-21-5p (MIRT030702), hsa-mir-19b-3p (MIRT031100), hsa-mir-30c-5p (MIRT048019), hsa-mir-30b-5p (MIRT046167)

    Block miRNA regulation of human, mouse, rat ELOVL4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ELOVL4 (see all 49):
    hsa-miR-21* hsa-let-7d hsa-miR-29a hsa-miR-25 hsa-miR-128 hsa-let-7g hsa-miR-9 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidELOVL4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ELOVL4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELOVL4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ELOV4_HUMAN, Q9GZR5: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0016021integral component of membrane ----
    GO:0030176integral component of endoplasmic reticulum membrane IDA16036915

    ELOVL4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ELOVL4 About    
    See pathways by source

    SuperPathContained pathways About
    1Triglyceride Biosynthesis
    Triglyceride Biosynthesis
    Fatty Acyl-CoA Biosynthesis0.00
    Synthesis of very long-chain fatty acyl-CoAs0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    4Biosynthesis of unsaturated fatty acids
    Fatty acid elongation0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ELOVL4
        Synthesis of very long-chain fatty acyl-CoAs


    1 Kegg Pathway  (Kegg details for ELOVL4):
        Fatty acid elongation


    ELOVL4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ELOVL4
    Interactions:

        GeneGlobe Interaction Network for ELOVL4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ELOVL4 (ENSP000003588314) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5OENSP000002902994STRING: ENSP00000290299
    PCNAENSP000003684384STRING: ENSP00000368438
    PIGGENSP000004152034STRING: ENSP00000415203
    SIGMAR1ENSP000002770104STRING: ENSP00000277010
    MYO1FENSP000003448714STRING: ENSP00000344871
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process NAS11138005
    GO:0009584detection of visible light NAS11138005
    GO:0019367fatty acid elongation, saturated fatty acid IDA--
    GO:0019432triglyceride biosynthetic process TAS--
    GO:0035338long-chain fatty-acyl-CoA biosynthetic process TAS--

    ELOVL4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ELOVL4 (ELOV4)

    1 DrugBank Compound for ELOVL4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-Linolenic Acid(9Z,12Z,15Z)-Octadecatrienoic acid (see all 5)463-40-1target--17139284 17016423

    1 Novoseek inferred chemical compound relationship for ELOVL4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty acid 53.9 11 20238022 (3), 11581213 (2), 12806887 (1), 20096366 (1) (see all 7)



    ELOVL4 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ELOVL4 gene: 
    NM_022726.3  

    Unigene Cluster for ELOVL4:

    ELOVL fatty acid elongase 4
    Hs.101915  [show with all ESTs]
    Unigene Representative Sequence: NM_022726
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000369816(uc003pja.4 uc011dyt.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ELOVL4 (see all 49):
    hsa-miR-21* hsa-let-7d hsa-miR-29a hsa-miR-25 hsa-miR-128 hsa-let-7g hsa-miR-9 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidELOVL4 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat ELOVL4
      QuantiFast Probe-based Assays in human, mouse, rat ELOVL4

    Additional mRNA sequence: 

    AF277094.1 AJ420478.1 AK055277.1 AK310625.1 AK312511.1 AY037298.1 BC038506.1 

    3 DOTS entries:

    DT.210673  DT.121353899  DT.100713332 

    Selected AceView cDNA sequences (see all 52):

    BF511600 BX951964 BM702857 AA985121 BX092448 BQ640367 AK055277 BG742712 
    AL711913 AI698451 AA969385 BG697562 AY037298 NM_022726 AF277094 AU280073 
    AA082557 BE878648 BX956520 BC038506 BF196601 AA626533 D79897 BU729573 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ELOVL4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
    SP1:                                -               
    SP2:              -     -                           
    SP3:                                                


    ECgene alternative splicing isoforms for ELOVL4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ELOVL4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ELOVL4 Expression
    About this image


    ELOVL4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
     
     Epidermis (Integumentary System)
    ELOVL4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ELOVL4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.101915

    UniProtKB/Swiss-Prot: ELOV4_HUMAN, Q9GZR5
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELOVL4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ELOVL4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Elovl41 , 5 elongation of very long chain fatty acids (FEN1/Elo2, more1, 5 84.29(n)1
    92.31(a)1
      9 (45.60 cM)5
    836031  NM_148941.21  NP_683743.21 
     837786925 
    chicken
    (Gallus gallus)
    Aves ELOVL41 ELOVL fatty acid elongase 4 75.83(n)
    76.68(a)
      421850  NM_001197309.1  NP_001184238.1 
    lizard
    (Anolis carolinensis)
    Reptilia ELOVL46
    ELOVL fatty acid elongase 4
    73(a)
    1 ↔ 1
    1(199341929-199404717)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.128092 Transcribed sequence with moderate similarity to protein more 76.87(n)    BX716992.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC060897.12   -- 75.37(n)   335732  BC060897.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52781 , 3 CG52781 44(a)
    (best of 8)3
    49.69(n)1
    43.22(a)1
      94B43
    426581  NM_142806.21  NP_651063.11 


    ENSEMBL Gene Tree for ELOVL4 (if available)
    TreeFam Gene Tree for ELOVL4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ELOVL4 gene
    ELOVL72  ELOVL32  ELOVL12  ELOVL62  ELOVL22  ELOVL52  
    4 SIMAP similar genes for ELOVL4 using alignment to 1 protein entry:     ELOV4_HUMAN:
    ELOVL2    ELOVL5    ELOVL7    ELOVL1

    ELOVL4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ELOVL4 (see all 706)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048939461,2
    Cpathogenic180598200(-) ACATAC/GAAAGA 2 Y * stg10--------
    rs1503038031,2
    C--80595844(+) TTTATG/TCATCA 1 -- ds50010--------
    rs1834686161,2
    --80595999(+) CAAGAA/CCTTCC 1 -- ds50010--------
    rs1380089941,2
    --80596008(+) CCCCAA/TTTATG 1 -- ds50010--------
    rs3437051,2
    C,F,A,H--80596270(+) ATCATA/TTTTTT 1 -- ut3115Minor allele frequency- T:0.35EA NA NS WA 966
    rs1435662781,2
    --80596311(+) AATCAC/GGTAGC 1 -- ut310--------
    rs29911,2
    C,F,H--80596396(+) GCAACA/CAAACA 1 -- ut3131Minor allele frequency- C:0.19MN NA NS EA WA 3520
    rs558087881,2
    C,F--80596514(+) AAATAC/TGTTAT 1 -- ut311Minor allele frequency- T:0.50WA 2
    rs1448113131,2
    C--80596641(+) TCTTT-/CTCTAG 1 -- ut310--------
    rs1151008231,2
    --80596880(+) CAAGAA/GTATTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ELOVL4 (80624529 - 80657315 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ELOVL4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2480577CNV Deletion19546169
    nsv525646CNV Loss19592680

    Human Gene Mutation Database (HGMD): ELOVL4
    Locus Specific Mutation Databases (LSDB): ELOVL4

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ELOVL4
    DNA2.0 Custom Variant and Variant Library Synthesis for ELOVL4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605512   
    OMIM disorders: 600110  614457  
    UniProtKB/Swiss-Prot: ELOV4_HUMAN, Q9GZR5
  • Stargardt disease 3 (STGD3) [MIM:600110]: A common hereditary macular degeneration. It is characterized
    by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent
    presence of prominent flecks in the posterior pole of the retina. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM:614457]: A severe autosomal
    recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with
    essentially no development, spastic quadriplegia, and seizures. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for ELOVL4 (see all 22):    
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    benign concentric annular macular dystrophy    macular dystrophy, autosomal dominant, chromosome 6-linked    stargardt disease 3    ichthyosis, spastic quadriplegia, and mental retardation
    spastic quadriplegia    stargardt disease    quadriplegia    macular dystrophy
    age related macular degeneration    retinal disease    retinal degeneration    leber congenital amaurosis
    retinitis pigmentosa    spasticity    retinitis    bronchiolitis
    intellectual disability    mental retardation    multiple myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for ELOVL4:
    Retinal degeneration

    ELOVL4 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for ELOVL4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    stgd3 99 14 20096366 (3), 17356513 (2), 11726641 (1), 16476896 (1) (see all 9)
    stargardts disease 74.7 2 14691150 (1), 16145543 (1)
    retinal degeneration 66.2 2 12592226 (1), 17311087 (1)
    retinitis pigmentosa 46.8 3 12592226 (2), 11474659 (1)

    Genetic Association Database (GAD): ELOVL4
    Human Genome Epidemiology (HuGE) Navigator: ELOVL4 (8 documents)

    Export disorders for ELOVL4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ELOVL4 gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with ELOVL4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. (PubMed id 11138005)1, 2, 3 Zhang K.... Petrukhin K. (Nat. Genet. 2001)
    2. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. (PubMed id 12592226)1, 2, 9 Rivolta C.... Dryja T.P. (Mol. Vis. 2003)
    3. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. (PubMed id 11581213)1, 2, 9 Edwards A.O.... Ritter R. III (Invest. Ophthalmol. Vis. Sci. 2001)
    4. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. (PubMed id 22100072)1, 2 Aldahmesh M.A.... Alkuraya F.S. (Am. J. Hum. Genet. 2011)
    5. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    6. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. (PubMed id 20522523)1, 4 KasperaviciAte D....Sisodiya S.M. (Brain 2010)
    7. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PubMed id 20937905)1, 2 Ohno Y.... Kihara A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    8. [Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population]. (PubMed id 20388345)1, 4 Gu H....Liu N.P. (Zhonghua Yan Ke Za Zhi 2010)
    9. Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. (PubMed id 17210851)1, 4 DeAngelis M.M....Dryja T.P. (Arch. Ophthalmol. 2007)
    10. Analysis 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. (PubMed id 16885922)1, 4 Seitsonen S....JAorvelAo I. (Mol. Vis. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6785 HGNC: 14415 AceView: ELOVL4 Ensembl:ENSG00000118402 euGenes: HUgn6785
    ECgene: ELOVL4 Kegg: 6785 H-InvDB: ELOVL4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ELOVL4 Pharmacogenomics, SNPs, Pathways
    Mutations of the ELOVL4 genehttp://www.retina-international.org/files/sci-news/elovlmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ELOVL4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ELOVL4 gene:
    Search GeneIP for patents involving ELOVL4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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