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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.

Additional gene information for C15orf53 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 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
GH15H038669 1.4 Ensembl ENCODE dbSUPER 11.8 -25.1 -25143 4.6 HDGF PKNOX1 TBL1XR1 RB1 SIN3A ZNF143 ZNF207 ATF7 ETV6 RUNX3 RASGRP1 C15orf53 FAM98B LOC105370775
GH15H038453 1.1 ENCODE 10.9 -242.0 -241955 2.2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 C15orf53 RASGRP1 FAM98B LOC100422645
GH15H038650 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -44.4 -44364 4.1 KLF1 ZNF687 NR2F1 SIN3A ELF1 CEBPG ZNF592 TARDBP IKZF1 MLLT1 RASGRP1 FAM98B C15orf53 LOC105370775
GH15H038474 0.7 ENCODE 12.4 -222.2 -222244 0.2 CTCF PKNOX1 CEBPG RAD21 FOXK2 SMC3 ZNF143 RCOR1 ZNF654 HLF C15orf53 FAM98B LOC100422645 LOC105370774
GH15H038546 0.8 dbSUPER 10.3 -149.2 -149219 1.4 ATF1 ZNF766 CREM ZBTB11 USF2 ZNF592 ZNF589 SMARCA4 ZBTB33 FOXJ2 C15orf53 FAM98B GC15P038543 RASGRP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C15orf53 on UCSC Golden Path with GeneCards custom track

Genomic Locations for C15orf53 Gene

Genomic Locations for C15orf53 Gene
chr15:38,696,598-38,700,038
(GRCh38/hg38)
Size:
3,441 bases
Orientation:
Plus strand
chr15:38,988,799-38,992,239
(GRCh37/hg19)

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

Gene Families for C15orf53 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C15orf53 Gene

Function for C15orf53 Gene

Phenotypes From GWAS Catalog for C15orf53 Gene

Phenotypes for C15orf53 Gene

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

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 , Subcellular locations from the Human Protein Atlas (HPA) 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:

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

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 34
  • 98 (a)
OneToOne
C15H15orf53 33
  • 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
nsv525770 CNV gain 19592680
nsv1046994 CNV gain 25217958

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 MA … Wellcome Trust Case Control Consortium (Nature genetics 2008) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53. (PMID: 23089632) Wang JC … Goate AM (Molecular psychiatry 2013) 3 60
  4. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. (PMID: 20351715) Liu Y … Wellcome Trust Case-Control Consortium (Molecular psychiatry 2011) 3 60
  5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) Psychiatric GWAS Consortium Bipolar Disorder Working Group (Nature genetics 2011) 3 60

Products for C15orf53 Gene

Sources for C15orf53 Gene

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