Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C8orf48 Gene

Aliases for C8orf48 Gene

  • Chromosome 8 Open Reading Frame 48 2 3 5

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.

Additional gene information for C8orf48 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 C8orf48 Gene

Genomics for C8orf48 Gene

GeneHancer (GH) Regulatory Elements for C8orf48 Gene

Promoters and enhancers for C8orf48 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I013566 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 -0.1 -107 1.3 MXI1 MAX SIN3A BMI1 RAD21 YY1 ZNF335 E2F1 POLR2A PRDM10 C8orf48 RNA5SP255 GC08P013528 DLC1
GH08I013535 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 12.2 -29.9 -29867 2.6 MNT RNA5SP255 DLC1 C8orf48 GC08P013528
GH08I013529 Enhancer 0.4 ENCODE dbSUPER 11.7 -36.2 -36157 1.9 C8orf48 GC08P013528 RNA5SP255 DLC1
GH08I013626 Enhancer 0.3 ENCODE 11.3 +60.3 60314 0.9 HNF4A C8orf48 LOC102725080 DLC1
GH08I013548 Enhancer 0.4 ENCODE dbSUPER 5.7 -17.3 -17318 1.5 C8orf48 RNA5SP255 GC08P013528 DLC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C8orf48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C8orf48 gene promoter:

Genomic Locations for C8orf48 Gene

Genomic Locations for C8orf48 Gene
1,446 bases
Plus strand

Genomic View for C8orf48 Gene

Genes around C8orf48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C8orf48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

Gene Families for C8orf48 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C8orf48 Gene

Localization for C8orf48 Gene

Subcellular locations from

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 C8orf48 gene
Compartment Confidence
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for C8orf48 Gene

NURSA nuclear receptor signaling pathways regulating expression of C8orf48 Gene:


SOURCE GeneReport for Unigene cluster for C8orf48 Gene:

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

No data available for 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 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
(Pan troglodytes)
Mammalia C8H8orf48 33
  • 99.48 (n)
C8orf48 34
  • 98 (a)
(Bos Taurus)
Mammalia C27H8orf48 33 34
  • 78.81 (n)
(Canis familiaris)
Mammalia C16H8orf48 33
  • 76.14 (n)
C8orf48 34
  • 47 (a)
(Mus musculus)
Mammalia AI429214 33 16 34
  • 72.65 (n)
(Rattus norvegicus)
Mammalia LOC688765 33
  • 70.96 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 41 (a)
-- 34
  • 24 (a)
(Ornithorhynchus anatinus)
Mammalia C8orf48 34
  • 26 (a)
(Gallus gallus)
Aves LOC771752 33
  • 61.08 (n)
(Anolis carolinensis)
Reptilia C8orf48 34
  • 45 (a)
Species where no ortholog for C8orf48 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)
  • 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 Variation AA Info Type
rs1000382255 -- 13,565,935(+) A/C upstream_transcript_variant
rs1000845574 -- 13,568,086(+) T/G 3_prime_UTR_variant
rs1001397310 -- 13,564,899(+) C/A upstream_transcript_variant
rs1002396317 -- 13,567,663(+) A/G/T coding_sequence_variant, synonymous_variant
rs1003067780 -- 13,565,738(+) G/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3616315 CNV loss 21293372
esv3616316 CNV gain 21293372
nsv1022834 CNV gain 25217958
nsv1032823 CNV gain 25217958
nsv1034745 CNV gain 25217958
nsv470185 CNV loss 18288195
nsv517019 CNV gain+loss 19592680
nsv610411 CNV loss 21841781
nsv610412 CNV gain 21841781
nsv610420 CNV gain 21841781
nsv8290 CNV gain 18304495

Variation tolerance for C8orf48 Gene

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

Additional Variant Information for C8orf48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for C8orf48 Gene

Additional Disease Information for C8orf48

No disorders were found for C8orf48 Gene.

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 RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M … Stelzl U (Nature methods 2013) 3 58
  4. An empirical framework for binary interactome mapping. (PMID: 19060904) Venkatesan K … Vidal M (Nature methods 2009) 3 58
  5. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PMID: 17903303) O'Donnell CJ … Demissie S (BMC medical genetics 2007) 44 58

Products for C8orf48 Gene

Sources for C8orf48 Gene

Loading form....