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Aliases for C5orf52 Gene

Aliases for C5orf52 Gene

  • Chromosome 5 Open Reading Frame 52 2 3 5

External Ids for C5orf52 Gene

Previous GeneCards Identifiers for C5orf52 Gene

  • GC05U901052
  • GC05P157032
  • GC05P157098
  • GC05P152187

Summaries for C5orf52 Gene

GeneCards Summary for C5orf52 Gene

C5orf52 (Chromosome 5 Open Reading Frame 52) is a Protein Coding gene. Diseases associated with C5orf52 include Coloboma Of Macula and Joubert Syndrome 1.

Additional gene information for C5orf52 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C5orf52 Gene

Genomics for C5orf52 Gene

GeneHancer (GH) Regulatory Elements for C5orf52 Gene

Promoters and enhancers for C5orf52 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I157669 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 560.3 -0.2 -218 2.7 HDGF ZNF493 ZNF529 BMI1 ZNF335 ZNF213 ZNF354C ZNF138 ZNF366 IKZF2 C5orf52 SOX30 THG1L MED7 ADAM19 PIR61662
GH05I157569 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.3 -97.3 -97336 8.9 HDGF ATF1 SIN3A TCF12 GLIS2 ZNF143 KLF7 ATF7 RUNX3 SP3 ADAM19 FNDC9 NIPAL4 LOC102724404 C5orf52 THG1L HAVCR2 ENSG00000253519
GH05I157610 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -58.9 -58941 3.9 ARNT FEZF1 IRF4 NCOA2 TCF12 GATA2 ATF7 RUNX3 JUNB NCOA1 ADAM19 NIPAL4 THG1L C5orf52 FNDC9 ENSG00000254336 GC05P157624
GH05I157594 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 5.6 -74.2 -74219 6 BATF KLF5 IRF4 ETV6 BCLAF1 IKZF2 RUNX3 CBFB JUNB SP1 ADAM19 NIPAL4 C5orf52 HAVCR2 THG1L ENSG00000254336 RNU6-390P
GH05I157591 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 5.3 -78.4 -78396 1.9 ZNF217 ZNF687 ETV6 ELF1 ZNF24 DPF2 IKZF2 SPI1 ZNF558 ADAM19 NIPAL4 ENSG00000253519 C5orf52 HAVCR2 RNU6-390P ENSG00000254336
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C5orf52 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C5orf52 gene promoter:

Genomic Locations for C5orf52 Gene

Genomic Locations for C5orf52 Gene
chr5:157,671,237-157,680,176
(GRCh38/hg38)
Size:
8,940 bases
Orientation:
Plus strand
chr5:157,098,561-157,107,162
(GRCh37/hg19)

Genomic View for C5orf52 Gene

Genes around C5orf52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C5orf52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C5orf52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C5orf52 Gene

Proteins for C5orf52 Gene

  • Protein details for C5orf52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NGY3-CE052_HUMAN
    Recommended name:
    Uncharacterized protein C5orf52
    Protein Accession:
    A6NGY3

    Protein attributes for C5orf52 Gene

    Size:
    159 amino acids
    Molecular mass:
    17908 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C5orf52 Gene

Post-translational modifications for C5orf52 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C5orf52 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C5orf52 Gene

Domains & Families for C5orf52 Gene

Gene Families for C5orf52 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C5orf52 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C5orf52: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C5orf52 Gene

Function for C5orf52 Gene

Phenotypes for C5orf52 Gene

MGI mutant phenotypes for C5orf52:
inferred from 1 alleles
GenomeRNAi human phenotypes for C5orf52:
genes like me logo Genes that share phenotypes with C5orf52: view

Animal Models for C5orf52 Gene

MGI Knock Outs for C5orf52:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C5orf52 Gene

Localization for C5orf52 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C5orf52 gene
Compartment Confidence
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C5orf52 Gene

Pathways & Interactions for C5orf52 Gene

SuperPathways for C5orf52 Gene

No Data Available

Interacting Proteins for C5orf52 Gene

Gene Ontology (GO) - Biological Process for C5orf52 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C5orf52 Gene

Drugs & Compounds for C5orf52 Gene

No Compound Related Data Available

Transcripts for C5orf52 Gene

mRNA/cDNA for C5orf52 Gene

(3) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C5orf52 Gene

Chromosome 5 open reading frame 52:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C5orf52 Gene

No ASD Table

Relevant External Links for C5orf52 Gene

GeneLoc Exon Structure for
C5orf52
ECgene alternative splicing isoforms for
C5orf52

Expression for C5orf52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C5orf52 Gene

mRNA differential expression in normal tissues according to GTEx for C5orf52 Gene

This gene is overexpressed in Testis (x48.6).

NURSA nuclear receptor signaling pathways regulating expression of C5orf52 Gene:

C5orf52

SOURCE GeneReport for Unigene cluster for C5orf52 Gene:

Hs.720862

Evidence on tissue expression from TISSUES for C5orf52 Gene

  • Spleen(3.3)
  • Intestine(2.8)
  • Lung(2.7)
  • Stomach(2.5)
genes like me logo Genes that share expression patterns with C5orf52: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C5orf52 Gene

Orthologs for C5orf52 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C5orf52 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C5H5orf52 33
  • 99.37 (n)
C5orf52 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100687383 33
  • 76.89 (n)
C5orf52 34
  • 43 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C17H5orf52 33
  • 74.94 (n)
C5orf52 34
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1308775 33
  • 70.37 (n)
mouse
(Mus musculus)
Mammalia 4921536K21Rik 33 16 34
  • 68.52 (n)
oppossum
(Monodelphis domestica)
Mammalia C5orf52 34
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C5orf52 34
  • 35 (a)
OneToOne
Species where no ortholog for C5orf52 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C5orf52 Gene

ENSEMBL:
Gene Tree for C5orf52 (if available)
TreeFam:
Gene Tree for C5orf52 (if available)

Paralogs for C5orf52 Gene

No data available for Paralogs for C5orf52 Gene

Variants for C5orf52 Gene

Sequence variations from dbSNP and Humsavar for C5orf52 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000146346 -- 157,673,952(+) A/G intron_variant
rs1000272919 -- 157,672,241(+) C/T intron_variant
rs1000397292 -- 157,677,595(+) G/A intron_variant
rs1000874291 -- 157,673,452(+) A/G intron_variant
rs1001005869 -- 157,679,009(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C5orf52 Gene

Variant ID Type Subtype PubMed ID
esv2730960 CNV deletion 23290073
esv2759389 CNV loss 17122850
esv3607319 CNV loss 21293372
esv3607320 CNV loss 21293372
nsv1124001 CNV deletion 24896259
nsv600134 CNV gain 21841781

Variation tolerance for C5orf52 Gene

Gene Damage Index Score: 8.31; 85.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C5orf52 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C5orf52

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C5orf52 Gene

Disorders for C5orf52 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C5orf52 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coloboma of macula
  • agenesis of macula
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C5orf52

genes like me logo Genes that share disorders with C5orf52: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C5orf52 Gene

Publications for C5orf52 Gene

  1. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for C5orf52 Gene

Sources for C5orf52 Gene

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