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Aliases for C6orf52 Gene

Aliases for C6orf52 Gene

  • Chromosome 6 Open Reading Frame 52 2 3 5

External Ids for C6orf52 Gene

Previous GeneCards Identifiers for C6orf52 Gene

  • GC06M010734
  • GC06M010779
  • GC06M010547

Summaries for C6orf52 Gene

GeneCards Summary for C6orf52 Gene

C6orf52 (Chromosome 6 Open Reading Frame 52) is a Protein Coding gene. An important paralog of this gene is TRNAU1AP.

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 C6orf52 Gene

Genomics for C6orf52 Gene

Regulatory Elements for C6orf52 Gene

Enhancers for C6orf52 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
GH06G010517 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +173.5 173509 7.1 HDGF FOXA2 PKNOX1 ARNT ARID4B DMAP1 FEZF1 ZNF2 ZNF766 CBX5 GCNT2 PAK1IP1 C6orf52 TMEM14B RNA5SP203 SYCP2L LOC101928146 GC06M010576
GH06G010693 1.2 ENCODE 15.7 0.0 -5 2.7 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 TBX21 MEF2D SSRP1 C6orf52 PAK1IP1 TMEM14C
GH06G010595 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +97.4 97397 4.0 HLF CEBPB ZMYM3 FOXA1 ZNF121 JUND CTBP1 GATA3 GATA2 SMARCA4 GCNT6 PAK1IP1 C6orf52 GCNT2 ELOVL2 RPL21P63 PIR63050
GH06G010510 1.4 Ensembl ENCODE dbSUPER 11.3 +184.0 183996 0.8 ELF3 HDAC1 ATF1 RB1 ARNT WRNIP1 ARID4B DNMT3B ZNF2 THRB C6orf52 PAK1IP1 LOC100422564 GC06M010472
GH06G010527 1.3 ENCODE dbSUPER 11.7 +162.5 162499 9.7 FOXA2 MLX WRNIP1 SIN3A ARID4B DMAP1 ZNF48 YY1 ZNF143 SP5 GCNT2 PAK1IP1 C6orf52 LOC101928146 GC06M010576
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C6orf52 on UCSC Golden Path with GeneCards custom track

Promoters for C6orf52 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000193030 -3 2401 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 TBX21 MEF2D SSRP1

Genomic Location for C6orf52 Gene

Chromosome:
6
Start:
10,671,418 bp from pter
End:
10,694,797 bp from pter
Size:
23,380 bases
Orientation:
Minus strand

Genomic View for C6orf52 Gene

Genes around C6orf52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C6orf52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C6orf52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C6orf52 Gene

Proteins for C6orf52 Gene

  • Protein details for C6orf52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T4I8-CF052_HUMAN
    Recommended name:
    Putative uncharacterized protein C6orf52
    Protein Accession:
    Q5T4I8
    Secondary Accessions:
    • Q5T4I7
    • Q96AS6

    Protein attributes for C6orf52 Gene

    Size:
    152 amino acids
    Molecular mass:
    17383 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16820.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI14001.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for C6orf52 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C6orf52 Gene

Post-translational modifications for C6orf52 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C6orf52 Gene

Domains & Families for C6orf52 Gene

Protein Domains for C6orf52 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C6orf52: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C6orf52 Gene

Function for C6orf52 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C6orf52 Gene

Localization for C6orf52 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 C6orf52 gene
Compartment Confidence
nucleus 3
extracellular 2
cytoskeleton 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C6orf52 Gene

Pathways & Interactions for C6orf52 Gene

SuperPathways for C6orf52 Gene

No Data Available

Interacting Proteins for C6orf52 Gene

Gene Ontology (GO) - Biological Process for C6orf52 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C6orf52 Gene

Drugs & Compounds for C6orf52 Gene

No Compound Related Data Available

Transcripts for C6orf52 Gene

Unigene Clusters for C6orf52 Gene

Chromosome 6 open reading frame 52:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C6orf52 Gene

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

Relevant External Links for C6orf52 Gene

GeneLoc Exon Structure for
C6orf52
ECgene alternative splicing isoforms for
C6orf52

Expression for C6orf52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C6orf52 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C6orf52 Gene

This gene is overexpressed in Testis (x8.5).

NURSA nuclear receptor signaling pathways regulating expression of C6orf52 Gene:

C6orf52

SOURCE GeneReport for Unigene cluster for C6orf52 Gene:

Hs.61389
genes like me logo Genes that share expression patterns with C6orf52: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C6orf52 Gene

Orthologs for C6orf52 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for C6orf52 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6H6orf52 34
  • 99.34 (n)
C6orf52 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C35H6orf52 34
  • 79.2 (n)
C6orf52 35
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562963 34
  • 69.27 (n)
oppossum
(Monodelphis domestica)
Mammalia C6orf52 35
  • 30 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C6orf52 35
  • 27 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 15 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia C6orf52 35
  • 13 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C19H6orf52 35
  • 11 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15440 35
  • 3 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T07F10.3 35
  • 1 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NGR1 35
  • 3 (a)
ManyToMany
NAM8 35
  • 2 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 2 (a)
OneToMany
Species where no ortholog for C6orf52 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • mouse (Mus musculus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for C6orf52 Gene

ENSEMBL:
Gene Tree for C6orf52 (if available)
TreeFam:
Gene Tree for C6orf52 (if available)

Paralogs for C6orf52 Gene

Paralogs for C6orf52 Gene

genes like me logo Genes that share paralogs with C6orf52: view

Variants for C6orf52 Gene

Sequence variations from dbSNP and Humsavar for C6orf52 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000038898 -- 10,694,167(+) AGGCA(-/G)GAGAA intron-variant, upstream-variant-2KB
rs1000236696 -- 10,684,017(+) CAAAG(-/A)TCTAC intron-variant, upstream-variant-2KB
rs1000252202 -- 10,676,941(+) AGCGT(A/G)CAAAT intron-variant
rs1000403623 -- 10,675,516(+) ACATA(C/T)TGATT intron-variant
rs1000459014 -- 10,688,858(+) CCAGG(A/C)TGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C6orf52 Gene

Variant ID Type Subtype PubMed ID
esv3335761 CNV insertion 20981092
esv3451704 CNV insertion 20981092
esv3570770 CNV loss 25503493
nsv462631 CNV gain 19166990
nsv470800 CNV gain 18288195
nsv520853 CNV loss 19592680
nsv600979 CNV gain 21841781
nsv966670 CNV duplication 23825009

Variation tolerance for C6orf52 Gene

Gene Damage Index Score: 10.02; 90.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C6orf52 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C6orf52

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C6orf52 Gene

Disorders for C6orf52 Gene

Relevant External Links for C6orf52

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C6orf52

No disorders were found for C6orf52 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C6orf52 Gene

Publications for C6orf52 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 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) 4 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 4 64

Products for C6orf52 Gene

Sources for C6orf52 Gene

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