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Aliases for C15orf53 Gene

Aliases for C15orf53 Gene

  • Chromosome 15 Open Reading Frame 53 2 3 5

External Ids for C15orf53 Gene

Previous GeneCards Identifiers for C15orf53 Gene

  • GC15P036777
  • GC15P038988
  • GC15P015833

Summaries for C15orf53 Gene

GeneCards Summary for C15orf53 Gene

C15orf53 (Chromosome 15 Open Reading Frame 53) is a Protein Coding gene. Diseases associated with C15orf53 include Spastic Paraplegia 11, Autosomal Recessive.

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 C15orf53 Gene

Genomics for C15orf53 Gene

Regulatory Elements for C15orf53 Gene

Enhancers for C15orf53 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
GH15G038669 1.4 Ensembl ENCODE dbSUPER 11.8 -25.1 -25143 4.6 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 ZNF143 ZNF207 RELB ETV6 IKZF2 RASGRP1 C15orf53 FAM98B LOC105370775
GH15G038453 1.1 ENCODE 10.9 -242.0 -241955 2.2 MLX CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 C15orf53 RASGRP1 LOC100422645 FAM98B
GH15G038575 1 ENCODE dbSUPER 10.2 -119.5 -119473 2.6 FOXA2 ESRRA JUN FOSL1 GATA3 CTBP1 GATA2 SCRT2 FOSL2 FOS RASGRP1 C15orf53 LOC105370775
GH15G038546 0.9 dbSUPER 10.3 -149.2 -149219 1.4 ATF1 ZNF766 CREM ZBTB11 USF2 KAT8 ZNF592 CREB3 RAD51 ZNF589 C15orf53 FAM98B GC15P038543 RASGRP1
GH15G038650 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -44.4 -44364 4.1 KLF1 MTA2 BHLHE40 NR2F1 CHD1 CEBPG TBX21 IKZF1 TARDBP TCF7 RASGRP1 FAM98B C15orf53 LOC105370775
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C15orf53 on UCSC Golden Path with GeneCards custom track

Genomic Location for C15orf53 Gene

Chromosome:
15
Start:
38,696,598 bp from pter
End:
38,700,038 bp from pter
Size:
3,441 bases
Orientation:
Plus strand

Genomic View for C15orf53 Gene

Genes around C15orf53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C15orf53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C15orf53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C15orf53 Gene

Proteins for C15orf53 Gene

  • Protein details for C15orf53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NAA6-CO053_HUMAN
    Recommended name:
    Uncharacterized protein C15orf53
    Protein Accession:
    Q8NAA6

    Protein attributes for C15orf53 Gene

    Size:
    179 amino acids
    Molecular mass:
    19737 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C15orf53 Gene

Post-translational modifications for C15orf53 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C15orf53 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C15orf53 Gene

Domains & Families for C15orf53 Gene

Protein Domains for C15orf53 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C15orf53: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C15orf53 Gene

Function for C15orf53 Gene

Phenotypes for C15orf53 Gene

genes like me logo Genes that share phenotypes with C15orf53: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C15orf53 Gene

Localization for C15orf53 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 C15orf53 gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C15orf53 Gene

Pathways & Interactions for C15orf53 Gene

SuperPathways for C15orf53 Gene

No Data Available

Interacting Proteins for C15orf53 Gene

Gene Ontology (GO) - Biological Process for C15orf53 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C15orf53 Gene

Drugs & Compounds for C15orf53 Gene

No Compound Related Data Available

Transcripts for C15orf53 Gene

mRNA/cDNA for C15orf53 Gene

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

Unigene Clusters for C15orf53 Gene

Chromosome 15 open reading frame 53:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C15orf53 Gene

No ASD Table

Relevant External Links for C15orf53 Gene

GeneLoc Exon Structure for
C15orf53
ECgene alternative splicing isoforms for
C15orf53

Expression for C15orf53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C15orf53 Gene

mRNA differential expression in normal tissues according to GTEx for C15orf53 Gene

This gene is overexpressed in Whole Blood (x9.8).

NURSA nuclear receptor signaling pathways regulating expression of C15orf53 Gene:

C15orf53

SOURCE GeneReport for Unigene cluster for C15orf53 Gene:

Hs.448785
genes like me logo Genes that share expression patterns with C15orf53: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C15orf53 Gene

Orthologs for C15orf53 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C15orf53 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C15orf53 35
  • 98 (a)
OneToOne
C15H15orf53 34
  • 97.95 (n)
Species where no ortholog for C15orf53 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 C15orf53 Gene

ENSEMBL:
Gene Tree for C15orf53 (if available)
TreeFam:
Gene Tree for C15orf53 (if available)

Paralogs for C15orf53 Gene

No data available for Paralogs for C15orf53 Gene

Variants for C15orf53 Gene

Sequence variations from dbSNP and Humsavar for C15orf53 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000212639 -- 38,699,071(+) CAGTT(A/T)CCCTA utr-variant-3-prime
rs1000429094 -- 38,698,894(+) TATTC(A/G)TGTGT utr-variant-3-prime
rs1001215470 -- 38,697,858(+) GTGAC(A/G)GGGAG intron-variant
rs1001435944 -- 38,697,678(+) GTGTG(C/T)GTTTT intron-variant
rs1001545384 -- 38,699,404(+) AAGAG(A/G)AGAAC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C15orf53 Gene

Variant ID Type Subtype PubMed ID
nsv1046994 CNV gain 25217958
nsv525770 CNV gain 19592680

Variation tolerance for C15orf53 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.49; 55.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C15orf53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C15orf53

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C15orf53 Gene

Disorders for C15orf53 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C15orf53 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic paraplegia 11, autosomal recessive
  • hereditary spastic paraplegia 11
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C15orf53

Genetic Association Database (GAD)
C15orf53
Human Genome Epidemiology (HuGE) Navigator
C15orf53
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C15orf53
genes like me logo Genes that share disorders with C15orf53: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C15orf53 Gene

Publications for C15orf53 Gene

  1. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PMID: 18711365) Ferreira M.A. … Craddock N. (Nat. Genet. 2008) 3 46 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53. (PMID: 23089632) Wang J.C. … Goate A.M. (Mol. Psychiatry 2013) 3 64
  4. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) (Nat. Genet. 2011) 3 64
  5. Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. (PMID: 21348951) Parsa A. … Liggett S.B. (Clin Transl Sci 2011) 46 64

Products for C15orf53 Gene

Sources for C15orf53 Gene

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