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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 Joubert Syndrome 1.

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

Regulatory Elements for C5orf52 Gene

Enhancers for C5orf52 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G157610 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -58.9 -58941 3.9 ARNT FEZF1 TCF12 GATA2 CBX5 ZMIZ1 JUNB NCOA1 REST TBX21 ADAM19 NIPAL4 THG1L C5orf52 FNDC9 ENSG00000254336 GC05P157624
GH05G157669 0.9 ENCODE 10.2 -0.2 -218 2.7 HDGF ZNF493 BMI1 ZNF138 ZNF366 ZNF354C RELB IKZF2 ZNF202 ZNF680 THG1L C5orf52 SOX30 ADAM19 PIR61662
GH05G157569 1.6 FANTOM5 ENCODE dbSUPER 5.3 -97.3 -97337 8.9 HDGF FOXA2 ATF1 CREB3L1 WRNIP1 SIN3A TCF12 GLIS2 GATA2 KLF7 ADAM19 FNDC9 NIPAL4 LOC102724404 C5orf52 THG1L HAVCR2 ENSG00000253519
GH05G157594 1.5 FANTOM5 ENCODE dbSUPER 5.6 -74.2 -74220 6.0 TBP PKNOX1 TBL1XR1 NFIB RAD21 YY1 EGR1 SCRT2 FOS RELB ADAM19 NIPAL4 C5orf52 HAVCR2 THG1L ENSG00000254336 RNU6-390P
GH05G157591 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.3 -78.4 -78397 1.9 DPF2 GABPA ZNF7 ARID3A ELK1 GATA2 EED ETV6 ZNF24 FOS ADAM19 NIPAL4 ENSG00000253519 C5orf52 HAVCR2 ENSG00000254336 RNU6-390P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C5orf52 on UCSC Golden Path with GeneCards custom track

Promoters for C5orf52 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000189597 63 1000 ZSCAN5A ZNF777 BMI1 ZNF324 ZNF366 PATZ1 RELB IKZF2 MAFK ZBTB20

Genomic Location for C5orf52 Gene

Chromosome:
5
Start:
157,671,237 bp from pter
End:
157,680,176 bp from pter
Size:
8,940 bases
Orientation:
Plus strand

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

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 Gene Families , 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

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 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

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

Clone Products

Flow Cytometry 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

Primer Products

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 34
  • 99.37 (n)
C5orf52 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100687383 34
  • 76.89 (n)
C5orf52 35
  • 43 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C17H5orf52 34
  • 74.94 (n)
C5orf52 35
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1308775 34
  • 70.37 (n)
mouse
(Mus musculus)
Mammalia 4921536K21Rik 34 16 35
  • 68.52 (n)
oppossum
(Monodelphis domestica)
Mammalia C5orf52 35
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C5orf52 35
  • 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 Sequence Context AA Info Type
rs1000146346 -- 157,673,952(+) TGAAC(A/G)ATTAT intron-variant, upstream-variant-2KB
rs1000272919 -- 157,672,241(+) TCAGC(C/T)TCTCT intron-variant, upstream-variant-2KB
rs1000397292 -- 157,677,595(+) GTTGC(A/G)ATGAG intron-variant
rs1000874291 -- 157,673,452(+) AATAT(A/G)TATAT intron-variant, upstream-variant-2KB
rs1001005869 -- 157,679,009(+) GGCGC(A/C)TGTAG 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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C5orf52

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 E.M. (Nature 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for C5orf52 Gene

Sources for C5orf52 Gene

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