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Aliases for LCA5 Gene

Aliases for LCA5 Gene

  • Leber Congenital Amaurosis 5 2 3 5
  • Leber Congenital Amaurosis 5 Protein 3 4
  • C6orf152 3 4
  • Chromosome 6 Open Reading Frame 152 2
  • Lebercilin 2

External Ids for LCA5 Gene

Previous HGNC Symbols for LCA5 Gene

  • C6orf152

Previous GeneCards Identifiers for LCA5 Gene

  • GC06U990222
  • GC06M080252
  • GC06M077415

Summaries for LCA5 Gene

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 leber congenital amaurosis 5 and leber congenital amaurosis. GO annotations related to this gene include protein complex binding. An important paralog of this gene is LCA5L.

UniProtKB/Swiss-Prot for LCA5 Gene

  • Might be involved in minus end-directed microtubule transport.

Gene Wiki entry for LCA5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LCA5 Gene

Genomics for LCA5 Gene

Regulatory Elements for LCA5 Gene

Promoters for LCA5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LCA5 on UCSC Golden Path with GeneCards custom track

Genomic Location for LCA5 Gene

Chromosome:
6
Start:
79,484,991 bp from pter
End:
79,537,458 bp from pter
Size:
52,468 bases
Orientation:
Minus strand

Genomic View for LCA5 Gene

Genes around LCA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LCA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LCA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LCA5 Gene

Proteins for LCA5 Gene

  • Protein details for LCA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VQ0-LCA5_HUMAN
    Recommended name:
    Lebercilin
    Protein Accession:
    Q86VQ0
    Secondary Accessions:
    • E1P542
    • Q9BWX7

    Protein attributes for LCA5 Gene

    Size:
    697 amino acids
    Molecular mass:
    80554 Da
    Quaternary structure:
    • Interacts with NINL. Interacts with OFD1. Interacts with FAM161A.

neXtProt entry for LCA5 Gene

Proteomics data for LCA5 Gene at MOPED

Post-translational modifications for LCA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LCA5 Gene

No data available for DME Specific Peptides for LCA5 Gene

Domains & Families for LCA5 Gene

Protein Domains for LCA5 Gene

Suggested Antigen Peptide Sequences for LCA5 Gene

Graphical View of Domain Structure for InterPro Entry

Q86VQ0

UniProtKB/Swiss-Prot:

LCA5_HUMAN :
  • Belongs to the LCA5 family.
Family:
  • Belongs to the LCA5 family.
genes like me logo Genes that share domains with LCA5: view

No data available for Gene Families for LCA5 Gene

Function for LCA5 Gene

Molecular function for LCA5 Gene

UniProtKB/Swiss-Prot Function:
Might be involved in minus end-directed microtubule transport.
genes like me logo Genes that share phenotypes with LCA5: view

Human Phenotype Ontology for LCA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for LCA5 Gene

Localization for LCA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LCA5 Gene

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
Jensen Localization Image for LCA5 Gene COMPARTMENTS Subcellular localization image for LCA5 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for LCA5 Gene

Pathways & Interactions for LCA5 Gene

SuperPathways for LCA5 Gene

No Data Available

Interacting Proteins for LCA5 Gene

Gene Ontology (GO) - Biological Process for LCA5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LCA5 Gene

Drugs & Compounds for LCA5 Gene

No Compound Related Data Available

Transcripts for LCA5 Gene

Unigene Clusters for LCA5 Gene

Leber congenital amaurosis 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LCA5 Gene

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

Relevant External Links for LCA5 Gene

GeneLoc Exon Structure for
LCA5
ECgene alternative splicing isoforms for
LCA5

Expression for LCA5 Gene

mRNA expression in normal human tissues for LCA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LCA5 Gene

This gene is overexpressed in Plasma (34.8), Adrenal (25.5), and Pancreatic juice (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LCA5 Gene



SOURCE GeneReport for Unigene cluster for LCA5 Gene Hs.21945

genes like me logo Genes that share expression patterns with LCA5: view

Protein tissue co-expression partners for LCA5 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LCA5 Gene

Orthologs for LCA5 Gene

This gene was present in the common ancestor of animals.

Orthologs for LCA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LCA5 35
  • 99.47 (n)
  • 99.14 (a)
LCA5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LCA5 36
  • 72 (a)
OneToOne
LCA5 35
  • 83.33 (n)
  • 72.73 (a)
dog
(Canis familiaris)
Mammalia LCA5 35
  • 88.71 (n)
  • 83.79 (a)
LCA5 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lca5 16
Lca5 35
  • 76.62 (n)
  • 70.13 (a)
Lca5 36
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LCA5 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LCA5 36
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lca5 35
  • 75.71 (n)
  • 69.84 (a)
chicken
(Gallus gallus)
Aves LCA5 35
  • 62.76 (n)
  • 51.29 (a)
LCA5 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LCA5 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497171 35
  • 59.69 (n)
  • 49.04 (a)
Str.17809 35
zebrafish
(Danio rerio)
Actinopterygii lca5 36
  • 29 (a)
OneToOne
lca5 35
  • 49.9 (n)
  • 42.63 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6652 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for LCA5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LCA5 Gene

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

Paralogs for LCA5 Gene

Paralogs for LCA5 Gene

(1) SIMAP similar genes for LCA5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LCA5: view

Variants for LCA5 Gene

Sequence variations from dbSNP and Humsavar for LCA5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2655655 - 79,518,824(-) TTACT(C/T)ATCTG reference, missense
rs34068461 - 79,518,818(-) ATCTG(A/C)TTTTG reference, missense
rs35338066 - 79,513,735(-) CCCTC(A/C/G)GAAAC reference, missense
VAR_038991 -
VAR_038992 -

Structural Variations from Database of Genomic Variants (DGV) for LCA5 Gene

Variant ID Type Subtype PubMed ID
dgv6930n71 CNV Gain 21882294
nsv830707 CNV Gain 17160897
nsv886303 CNV Gain 21882294
nsv463906 CNV Loss 19166990

Variation tolerance for LCA5 Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.68; 93.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LCA5 Gene

HapMap Linkage Disequilibrium report
LCA5
Human Gene Mutation Database (HGMD)
LCA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LCA5 Gene

Disorders for LCA5 Gene

MalaCards: The human disease database

(12) MalaCards diseases for LCA5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LCA5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LCA5_HUMAN
  • 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. {ECO:0000269 PubMed:17546029, ECO:0000269 PubMed:18000884, ECO:0000269 PubMed:18334959}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LCA5

Genetic Association Database (GAD)
LCA5
Human Genome Epidemiology (HuGE) Navigator
LCA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LCA5
genes like me logo Genes that share disorders with LCA5: view

No data available for Genatlas for LCA5 Gene

Publications for LCA5 Gene

  1. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. (PMID: 17546029) den Hollander A.I. … Roepman R. (Nat. Genet. 2007) 2 3 4 67
  2. A novel locus for Leber congenital amaurosis maps to chromosome 6q. (PMID: 10631161) Dharmaraj S. … Maumenee I.H. (Am. J. Hum. Genet. 2000) 2 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. (PMID: 25018096) Roosing S. … Cremers F.P. (Am. J. Hum. Genet. 2014) 3
  5. Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population. (PMID: 24144451) Corton M. … Ayuso C. (Ophthalmology 2014) 3

Products for LCA5 Gene

Sources for LCA5 Gene

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