Aliases for C8orf48 Gene

Aliases for C8orf48 Gene

  • Chromosome 8 Open Reading Frame 48 2 3 5
  • Uncharacterized Protein C8orf48 3 4
  • FLJ25402 2
  • C8orf48 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.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C8orf48 Gene

Genomics for C8orf48 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C8orf48 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J013566 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 250.7 -0.3 -268 1.6 ZNF10 YY1 SIN3A ELF1 RXRA SP2 GABPB1 ZNF189 POLR2A HNF4A C8orf48 HSALNG0063550 DLC1 lnc-DLC1-1 TRMT9B
GH08J013535 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 12.2 -29.9 -29893 2.6 BHLHE40 MNT CEBPB MF281437-047 RNA5SP255 DLC1 C8orf48 HSALNG0063550 HSALNG0063547 TRMT9B
GH08J013626 Enhancer 0.5 Ensembl ENCODE 11.3 +60.3 60288 0.9 HNF4A SP1 LOC102725080 C8orf48 HSALNG0063552 DLC1
GH08J013529 Enhancer 0.3 ENCODE dbSUPER 11.7 -36.2 -36183 1.9 C8orf48 MF281437-047 RNA5SP255 RF00017-6303 HSALNG0063547 DLC1 TRMT9B
GH08J013548 Enhancer 0.5 Ensembl ENCODE dbSUPER 5.7 -17.4 -17410 1.6 C8orf48 HSALNG0063550 MF281437-047 RNA5SP255 DLC1 TRMT9B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C8orf48 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C8orf48

Top Transcription factor binding sites by QIAGEN in the C8orf48 gene promoter:
  • AML1a
  • AREB6
  • C/EBPbeta
  • Cdc5
  • Chx10
  • RORalpha2
  • Sox9
  • Tal-1
  • USF-1
  • USF1

Genomic Locations for C8orf48 Gene

Latest Assembly
chr8:13,566,869-13,568,288
(GRCh38/hg38)
Size:
1,420 bases
Orientation:
Plus strand

Previous Assembly
chr8:13,424,378-13,425,797
(GRCh37/hg19 by Entrez Gene)
Size:
1,420 bases
Orientation:
Plus strand

chr8:13,424,352-13,425,796
(GRCh37/hg19 by Ensembl)
Size:
1,445 bases
Orientation:
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:
    Q96LL4-CH048_HUMAN
    Recommended name:
    Uncharacterized protein C8orf48
    Protein Accession:
    Q96LL4
    Secondary Accessions:
    • Q96LJ9

    Protein attributes for C8orf48 Gene

    Size:
    319 amino acids
    Molecular mass:
    36790 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71692.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C8orf48 Gene

Function for C8orf48 Gene

Phenotypes From GWAS Catalog 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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8orf48

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

Localization for C8orf48 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 C8orf48 gene
Compartment Confidence
nucleus 4
cytosol 2
cytoskeleton 1

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

PathCards logo

SuperPathways for C8orf48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C8orf48 Gene

None

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 :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8orf48

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

No ASD Table

Relevant External Links for C8orf48 Gene

GeneLoc Exon Structure for
C8orf48

Expression for C8orf48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C8orf48

SOURCE GeneReport for Unigene cluster for C8orf48 Gene:

Hs.104941
genes like me logo Genes that share expression patterns with C8orf48: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia C8H8orf48 29
  • 99.48 (n)
C8orf48 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C27H8orf48 29 30
  • 78.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C16H8orf48 29
  • 76.14 (n)
C8orf48 30
  • 47 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia AI429214 29 16 30
  • 72.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC688765 29
  • 70.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 41 (a)
OneToMany
-- 30
  • 24 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia C8orf48 30
  • 26 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC771752 29
  • 61.08 (n)
Lizard
(Anolis carolinensis)
Reptilia C8orf48 30
  • 45 (a)
OneToOne
Species where no ortholog for C8orf48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for C8orf48 (if available)
TreeFam:
Gene Tree for C8orf48 (if available)
Alliance of Genome Resources:
Additional Orthologs for C8orf48

Paralogs for C8orf48 Gene

No data available for Paralogs for C8orf48 Gene

Variants for C8orf48 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C8orf48 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs11203497 -- p.Leu285Met
rs13273355 -- p.Ser28Phe

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C8orf48 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
C8orf48
Leiden Open Variation Database (LOVD)
C8orf48

SNP Genotyping and Copy Number Assays for research

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
  2. C8orf48 inhibits the tumorigenesis of colorectal cancer by regulating the MAPK signaling pathway. (PMID: 33309715) Lei L … Yan B (Life sciences 2021) 3
  3. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for C8orf48 Gene

Sources for C8orf48 Gene