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Aliases for C9orf57 Gene

Aliases for C9orf57 Gene

  • Chromosome 9 Open Reading Frame 57 2 3 5

External Ids for C9orf57 Gene

Previous GeneCards Identifiers for C9orf57 Gene

  • GC09M070123
  • GC09M070113
  • GC09M071895
  • GC09M073856
  • GC09M074666
  • GC09M044488

Summaries for C9orf57 Gene

GeneCards Summary for C9orf57 Gene

C9orf57 (Chromosome 9 Open Reading Frame 57) is a Protein Coding 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 C9orf57 Gene

Genomics for C9orf57 Gene

Regulatory Elements for C9orf57 Gene


Genomic Location for C9orf57 Gene

Chromosome:
9
Start:
72,051,376 bp from pter
End:
72,072,721 bp from pter
Size:
21,346 bases
Orientation:
Minus strand

Genomic View for C9orf57 Gene

Genes around C9orf57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf57 Gene

Proteins for C9orf57 Gene

  • Protein details for C9orf57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5W0N0-CI057_HUMAN
    Recommended name:
    Uncharacterized protein C9orf57
    Protein Accession:
    Q5W0N0
    Secondary Accessions:
    • A1L456

    Protein attributes for C9orf57 Gene

    Size:
    161 amino acids
    Molecular mass:
    18115 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C9orf57 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf57 Gene

Post-translational modifications for C9orf57 Gene

No Post-translational modifications

Other Protein References for C9orf57 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C9orf57 Gene

Domains & Families for C9orf57 Gene

Protein Domains for C9orf57 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf57: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf57 Gene

Function for C9orf57 Gene

Phenotypes for C9orf57 Gene

genes like me logo Genes that share phenotypes with C9orf57: view

Animal Model Products

CRISPR 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 C9orf57 Gene

Localization for C9orf57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf57 Gene

Membrane; Single-pass membrane protein.

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 C9orf57 gene
Compartment Confidence
plasma membrane 3
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C9orf57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C9orf57: view

Pathways & Interactions for C9orf57 Gene

SuperPathways for C9orf57 Gene

No Data Available

Interacting Proteins for C9orf57 Gene

Gene Ontology (GO) - Biological Process for C9orf57 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf57 Gene

Transcripts for C9orf57 Gene

mRNA/cDNA for C9orf57 Gene

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

Unigene Clusters for C9orf57 Gene

Chromosome 9 open reading frame 57:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf57 Gene

No ASD Table

Relevant External Links for C9orf57 Gene

GeneLoc Exon Structure for
C9orf57
ECgene alternative splicing isoforms for
C9orf57

Expression for C9orf57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf57 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf57 Gene

This gene is overexpressed in Testis (x51.1).

NURSA nuclear receptor signaling pathways regulating expression of C9orf57 Gene:

C9orf57

SOURCE GeneReport for Unigene cluster for C9orf57 Gene:

Hs.371235
genes like me logo Genes that share expression patterns with C9orf57: 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 C9orf57 Gene

Orthologs for C9orf57 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C9orf57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9orf57 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9orf57 35
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm3443 35
  • 59 (a)
OneToOne
Species where no ortholog for C9orf57 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)
  • 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)
  • 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 C9orf57 Gene

ENSEMBL:
Gene Tree for C9orf57 (if available)
TreeFam:
Gene Tree for C9orf57 (if available)

Paralogs for C9orf57 Gene

No data available for Paralogs for C9orf57 Gene

Variants for C9orf57 Gene

Sequence variations from dbSNP and Humsavar for C9orf57 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000108941 -- 72,053,397(+) ACTGT(A/T)GTCAT intron-variant
rs1000292371 -- 72,053,703(+) CCTTG(C/T)GACGT intron-variant
rs1000555407 -- 72,057,868(+) ATATT(A/G)TTCAT intron-variant
rs1000652553 -- 72,059,482(+) ATAAG(C/T)TTATT intron-variant, upstream-variant-2KB
rs1000897764 -- 72,052,071(+) AGAGG(A/G)GAGAA intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C9orf57 Gene

Variant ID Type Subtype PubMed ID
esv22526 CNV gain 19812545
esv2667732 CNV deletion 23128226
nsv831618 CNV loss 17160897

Variation tolerance for C9orf57 Gene

Gene Damage Index Score: 2.52; 43.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf57 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf57 Gene

Disorders for C9orf57 Gene

Relevant External Links for C9orf57

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9orf57

No disorders were found for C9orf57 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf57 Gene

Publications for C9orf57 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (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
  3. 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

Products for C9orf57 Gene

Sources for C9orf57 Gene

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