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LCA5 Gene

protein-coding   GIFtS: 53
GCID: GC06M080252

Leber Congenital Amaurosis 5

(Previous name: chromosome 6 open reading frame 152)
(Previous symbol: C6orf152)
  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
Leber Congenital Amaurosis 51 2
C6orf1521 2 3 5
Leber Congenital Amaurosis 5 Protein2 3
Chromosome 6 Open Reading Frame 1521
lebercilin1
Lebercilin2

External Ids:    HGNC: 319231   Entrez Gene: 1676912   Ensembl: ENSG000001353387   OMIM: 6114085   UniProtKB: Q86VQ03   

Export aliases for LCA5 gene to outside databases

Previous GC identifers: GC06U990222 GC06M077415


(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 LCA5 Gene:
This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this
gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. (provided
by RefSeq, Oct 2009)

GeneCards Summary for LCA5 Gene:
LCA5 (Leber congenital amaurosis 5) is a protein-coding gene. Diseases associated with LCA5 include lca5-related leber congenital amaurosis, and leber congenital amaurosis 5. GO annotations related to this gene include protein complex binding. An important paralog of this gene is LCA5L.

UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0
Function: Might be involved in minus end-directed microtubule transport

Gene Wiki entry for LCA5 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  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LCA5 gene promoter:
         MEF-2A   CBF-B   CBF-A   CP1C   aMEF-2   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLCA5 promoter sequence
   Search Chromatin IP Primers for LCA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LCA5


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

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

LCA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LCA5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M080252:  view genomic region     (about GC identifiers)

Start:
80,194,708 bp from pter      End:
80,247,175 bp from pter
Size:
52,468 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0 (See protein sequence)
Recommended Name: Lebercilin  
Size: 697 amino acids; 80554 Da
Subunit: Interacts with NINL. Interacts with OFD1. Interacts with FAM161A
Secondary accessions: E1P542 Q9BWX7

Explore the universe of human proteins at neXtProt for LCA5: NX_Q86VQ0

Explore proteomics data for LCA5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See LCA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001116241.1  NP_859065.2  

    ENSEMBL proteins: 
     ENSP00000358861   ENSP00000376686   ENSP00000474463  

    LCA5 Human Recombinant Protein Products:

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    Novus Biologicals LCA5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LCA5

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    Abcam antibodies for LCA5
    Cloud-Clone Corp. Antibodies for LCA5
    Search ThermoFisher Antibodies for LCA5
    LSBio Antibodies in human, mouse, rat for LCA5

    LCA5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LCA5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LCA5
    Cloud-Clone Corp. CLIAs for LCA5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR026188 Lebercilin-like
     IPR026684 Lebercilin

    Graphical View of Domain Structure for InterPro Entry Q86VQ0

    ProtoNet protein and cluster: Q86VQ0

    UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0
    Similarity: Belongs to the LCA5 family


    LCA5 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: LCA5_HUMAN, Q86VQ0
    Function: Might be involved in minus end-directed microtubule transport

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19800048
    GO:0032403protein complex binding IDA--
         
    LCA5 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for LCA5:
     Decreased viability of wild-ty  Downregulation of NF-kappaB pa  Increased cell number in G1, a 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lca5):
     nervous system  pigmentation  vision/eye 

    LCA5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LCA5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LCA5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LCA5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LCA5

    miRNA
    Products:
        
    miRTarBase miRNAs that target LCA5:
    hsa-mir-10a-5p (MIRT025623), hsa-mir-335-5p (MIRT019013), hsa-mir-132-3p (MIRT021827), hsa-mir-122-5p (MIRT023341), hsa-mir-148b-3p (MIRT019478)

    Block miRNA regulation of human, mouse, rat LCA5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LCA5 (see all 26):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-miR-374a hsa-miR-138-2* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidLCA5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LCA5
    Predesigned siRNA for gene silencing in human, mouse, rat LCA5

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for LCA5 (see all 12)
    OriGene ORF clones in mouse, rat for LCA5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LCA5 (NM_152505)
    Sino Biological Human cDNA Clone for LCA5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LCA5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LCA5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for LCA5 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCA5


    (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
    LCA5_HUMAN, Q86VQ0: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton,
    cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=In non- ciliated
    cells, localizes to the centrosome and its associated microtubule array
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus3
    cytosol2
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0005929cilium IDA--

    LCA5 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LCA5
    Interactions:

        Search GeneGlobe Interaction Network for LCA5

    1 Interacting protein for LCA5 (Q86VQ03) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRIN2BQ132243I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0042073intraciliary transport IEA--
    GO:0045494photoreceptor cell maintenance IEA--

    LCA5 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 LCA5



    (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,
    Conferences by KenesGroup, 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 LCA5 gene (2 alternative transcripts): 
    NM_001122769.2  NM_181714.3  

    Unigene Cluster for LCA5:

    Leber congenital amaurosis 5
    Hs.21945  [show with all ESTs]
    Unigene Representative Sequence: BC050327
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369846 ENST00000392959(uc003piy.3 uc003pix.3 uc011dyr.2)
    ENST00000467898
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LCA5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LCA5 (see all 26):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-miR-374a hsa-miR-138-2* hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidLCA5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for LCA5
    Predesigned siRNA for gene silencing in human, mouse, rat LCA5
    Clone
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    OriGene clones in human, mouse for LCA5 (see all 12)
    OriGene ORF clones in mouse, rat for LCA5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LCA5 (NM_152505)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LCA5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LCA5
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for LCA5
    OriGene qSTAR qPCR primer pairs in human, mouse for LCA5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LCA5
      QuantiTect SYBR Green Assays in human, mouse, rat LCA5
      QuantiFast Probe-based Assays in human, mouse, rat LCA5

    Additional mRNA sequence: 

    AK299314.1 AL832214.1 BC050327.1 BX648161.1 

    2 DOTS entries:

    DT.40247242  DT.100751233 

    Selected AceView cDNA sequences (see all 56):

    AI742190 BX097952 BQ226190 CD671730 AI922939 AI287818 CK824735 AW166971 
    BM053085 F01653 BQ025475 BM263977 Z44254 BC050327 BG720047 BM264279 
    BU102073 BQ022524 NM_181714 AA490709 BG942664 AI913663 AI379143 AA864885 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for LCA5    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                                              
    SP2:                    -     -                                                   
    SP3:                    -                                                         


    ECgene alternative splicing isoforms for LCA5

    (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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    LCA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTATTTGTC
    LCA5 Expression
    About this image


    LCA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Thyroid (Endocrine System)
    LCA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LCA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.21945
        Custom PCR Arrays for LCA5
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    QuantiFast Probe-based Assays in human, mouse, rat LCA5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LCA5

    (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 LCA5 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lca51 , 5 Leber congenital amaurosis 5 (human)1, 5 76.62(n)1
    70.13(a)1
      9 (45.42 cM)5
    757821  NM_027448.21  NP_081724.11 
     833913645 
    chicken
    (Gallus gallus)
    Aves LCA51 Leber congenital amaurosis 5 62.76(n)
    51.29(a)
      421852  XM_419870.4  XP_419870.1 
    lizard
    (Anolis carolinensis)
    Reptilia LCA56
    Leber congenital amaurosis 5
    44(a)
    1 ↔ 1
    1(199545100-199575379)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.178092 Transcribed sequence with weak similarity to protein more 73.77(n)    AL775741.2 
    zebrafish
    (Danio rerio)
    Actinopterygii lca51 Leber congenital amaurosis 5 49.9(n)
    42.63(a)
      100151323  XM_001919876.2  XP_001919911.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG66526
    --
    17(a)
    1 → many
    3L(17013448-17015956)


    ENSEMBL Gene Tree for LCA5 (if available)
    TreeFam Gene Tree for LCA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LCA5 gene
    LCA5L2  
    1 SIMAP similar gene for LCA5 using alignment to 3 protein entries:     LCA5_HUMAN (see all proteins):
    LCA5L

    LCA5 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 LCA5 (see all 1024)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219181651,2
    C,Fpathogenic177423965(-) AGGTAC/TAGCGA 4 Q * stg12Minor allele frequency- T:0.00NA EU 5851
    rs1890574591,2
    --77414827(+) TGCAAA/TTTATG 2 -- ds50010--------
    rs26556701,2
    C,F,O,A,H--77414954(+) AAGCCG/AAGTAT 2 -- ds500130Minor allele frequency- A:0.38NA NS EA CSA WA 3326
    rs15043641,2
    C,F,O,A--77415161(+) CTAGCG/ATACTG 2 -- ds50019Minor allele frequency- A:0.39NA CSA WA EA 502
    rs1135608691,2
    C--77415540(+) AGAGAC/TTATCA 2 -- ut311Minor allele frequency- T:0.50CSA 2
    rs587175131,2
    --77415554(+) AGAAAA/TAAAGC 2 -- ut310--------
    rs13942811,2
    C,F,H--77415579(+) AATGAA/C/TGTGAA 4 -- ut31 ese36NS EA NA 704
    rs1112432881,2
    F--77415653(+) GCAGAG/AAAATT 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1152500031,2
    F--77415720(+) ATAATA/GTTGTT 2 -- ut311Minor allele frequency- G:0.03WA 118
    rs1841008781,2
    --77415754(+) AACATA/CTTATA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for LCA5 (80194708 - 80247175 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for LCA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv463906CNV Loss19166990
    dgv6930n71CNV Gain21882294
    nsv886303CNV Gain21882294
    nsv830707CNV Gain17160897

    Human Gene Mutation Database (HGMD): LCA5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LCA5
    DNA2.0 Custom Variant and Variant Library Synthesis for LCA5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611408   
    OMIM disorders: 604537  
    UniProtKB/Swiss-Prot: LCA5_HUMAN, Q86VQ0
  • Leber congenital amaurosis 5 (LCA5) [MIM:604537]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 17 diseases for LCA5:    
    About MalaCards
    lca5-related leber congenital amaurosis    leber congenital amaurosis 5    severe early-childhood-onset retinal dystrophy    leber congenital amaurosis 17
    joubert syndrome    fundus dystrophy    usher syndrome    coloboma
    cone-rod dystrophy    leber congenital amaurosis    retinitis pigmentosa    retinal degeneration
    cataract    retinitis    blindness    multiple myeloma
    myeloma

    3 diseases from the University of Copenhagen DISEASES database for LCA5:
    Leber congenital amaurosis     Fundus dystrophy     Blindness

    LCA5 for disorders           About GeneDecksing

    GeneTests: LCA5
    GeneReviews: LCA5
    Genetic Association Database (GAD): LCA5
    Human Genome Epidemiology (HuGE) Navigator: LCA5 (2 documents)

    Export disorders for LCA5 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 LCA5 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with LCA5)
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    1. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. (PubMed id 17546029)1, 2, 3 den Hollander A.I.... Roepman R. (Nat. Genet. 2007)
    2. Genome-wide association study of hoarding traits. (PubMed id 21302353)1, 4 Perroud N....Mataix-Cols D. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2011)
    3. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5- encoded lebercilin. (PubMed id 19800048)1, 2 Coene K.L.... de Brouwer A.P. (Am. J. Hum. Genet. 2009)
    4. LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. (PubMed id 19172513)1, 4 Seong M.W....Park S.S. (Ophthalmic Genet. 2009)
    5. Identification of a novel splice-site mutation in the lebercilin (LCA5) gene causing Leber congenital amaurosis. (PubMed id 18334959)1, 2 Ramprasad V.L....Kumaramanickavel G. (Mol. Vis. 2008)
    6. Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. (PubMed id 18000884)1, 2 Gerber S....Rozet J.-M. (Hum. Mutat. 2007)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    9. A novel locus for Leber congenital amaurosis maps to chromosome 6q. (PubMed id 10631161)1, 3 Dharmaraj S....Maumenee I.H. (Am. J. Hum. Genet. 2000)
    10. Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population. (PubMed id 24144451)1 Corton M....Ayuso C. (Ophthalmology 2014)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 167691 HGNC: 31923 AceView: C6orf152 Ensembl:ENSG00000135338 euGenes: HUgn167691
    ECgene: LCA5 H-InvDB: LCA5

    (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 LCA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LCA5 gene:
    Search GeneIP for patents involving LCA5

    GeneCards and IP:
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