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Aliases for C8orf48 Gene

Aliases for C8orf48 Gene

  • Chromosome 8 Open Reading Frame 48 2 3

External Ids for C8orf48 Gene

Previous GeneCards Identifiers for C8orf48 Gene

  • GC08P013469
  • GC08P011966

Summaries for C8orf48 Gene

GeneCards Summary for C8orf48 Gene

C8orf48 (Chromosome 8 Open Reading Frame 48) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C8orf48 Gene

Genomics for C8orf48 Gene

Regulatory Elements for C8orf48 Gene

Genomic Location for C8orf48 Gene

13,566,843 bp from pter
13,568,288 bp from pter
1,446 bases
Plus strand

Genomic View for C8orf48 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C8orf48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8orf48 Gene

Proteins for C8orf48 Gene

  • Protein details for C8orf48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C8orf48
    Protein Accession:
    Secondary Accessions:
    • Q96LJ9

    Protein attributes for C8orf48 Gene

    319 amino acids
    Molecular mass:
    36790 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB71692.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for C8orf48 Gene

Proteomics data for C8orf48 Gene at MOPED

Post-translational modifications for C8orf48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C8orf48 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C8orf48 Gene

Domains & Families for C8orf48 Gene

Protein Domains for C8orf48 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C8orf48: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C8orf48 Gene

Function for C8orf48 Gene

Gene Ontology (GO) - Molecular Function for C8orf48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with C8orf48: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C8orf48

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for C8orf48 Gene

Localization for C8orf48 Gene

Subcellular locations from

Jensen Localization Image for C8orf48 Gene COMPARTMENTS Subcellular localization image for C8orf48 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C8orf48 Gene

Pathways & Interactions for C8orf48 Gene

SuperPathways for C8orf48 Gene

No Data Available

Interacting Proteins for C8orf48 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q96LL4-CH048_HUMAN ENSP00000297324 for C8orf48 Gene via I2D MINT UniProtKB STRING

Gene Ontology (GO) - Biological Process for C8orf48 Gene


No data available for Pathways by source and SIGNOR curated interactions for C8orf48 Gene

Drugs & Compounds for C8orf48 Gene

No Compound Related Data Available

Transcripts for C8orf48 Gene

mRNA/cDNA for C8orf48 Gene

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

Unigene Clusters for C8orf48 Gene

Chromosome 8 open reading frame 48:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C8orf48

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C8orf48 Gene

No ASD Table

Relevant External Links for C8orf48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C8orf48 Gene

mRNA expression in normal human tissues for C8orf48 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C8orf48 Gene

This gene is overexpressed in Testis (x6.7).

Protein differential expression in normal tissues from HIPED for C8orf48 Gene

This gene is overexpressed in Colon muscle (60.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C8orf48 Gene

SOURCE GeneReport for Unigene cluster for C8orf48 Gene Hs.104941

genes like me logo Genes that share expression patterns with C8orf48: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for C8orf48 Gene

Orthologs for C8orf48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8orf48 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia C27H8orf48 35
  • 78.81 (n)
  • 65.43 (a)
C27H8orf48 36
  • 64 (a)
(Canis familiaris)
Mammalia C16H8orf48 35
  • 76.14 (n)
  • 58.33 (a)
C8orf48 36
  • 47 (a)
(Mus musculus)
Mammalia AI429214 35
  • 72.65 (n)
  • 60.26 (a)
AI429214 16
AI429214 36
  • 54 (a)
(Pan troglodytes)
Mammalia C8H8orf48 35
  • 99.48 (n)
  • 99.06 (a)
C8orf48 36
  • 98 (a)
(Rattus norvegicus)
Mammalia LOC688765 35
  • 70.96 (n)
  • 58.71 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 41 (a)
-- 36
  • 24 (a)
(Ornithorhynchus anatinus)
Mammalia C8orf48 36
  • 26 (a)
(Gallus gallus)
Aves LOC771752 35
  • 61.08 (n)
  • 41.38 (a)
(Anolis carolinensis)
Reptilia C8orf48 36
  • 45 (a)
Species with no ortholog for C8orf48:
  • 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)
  • 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)
  • 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 C8orf48 Gene

Gene Tree for C8orf48 (if available)
Gene Tree for C8orf48 (if available)

Paralogs for C8orf48 Gene

No data available for Paralogs for C8orf48 Gene

Variants for C8orf48 Gene

Sequence variations from dbSNP and Humsavar for C8orf48 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs6984011 -- 13,565,247(+) GACAC(G/T)ATTAT upstream-variant-2KB
rs6989489 -- 13,565,670(+) TAATA(A/C)CCCCC upstream-variant-2KB
rs10095899 -- 13,566,876(+) GACGA(A/C)CTCCG utr-variant-5-prime
rs10096353 -- 13,567,258(+) ATCAA(C/G)TACCT reference, missense
rs11203497 - 13,567,844(+) AGAAG(A/T)TGCAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for C8orf48 Gene

Variant ID Type Subtype PubMed ID
nsv8290 CNV Gain 18304495
nsv890394 CNV Gain 21882294
nsv890395 CNV Gain 21882294
nsv517019 CNV Gain+Loss 19592680
nsv470185 CNV Loss 18288195
nsv890396 CNV Gain 21882294

Variation tolerance for C8orf48 Gene

Gene Damage Index Score: 2.49; 43.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C8orf48 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C8orf48 Gene

Disorders for C8orf48 Gene

Relevant External Links for C8orf48

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C8orf48: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C8orf48 Gene

Publications for C8orf48 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 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 67
  4. An empirical framework for binary interactome mapping. (PMID: 19060904) Venkatesan K. … Vidal M. (Nat. Methods 2009) 67
  5. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PMID: 17903303) O'Donnell C.J. … Demissie S. (BMC Med. Genet. 2007) 67

Products for C8orf48 Gene

Sources for C8orf48 Gene

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