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Aliases for C6orf48 Gene

Aliases for C6orf48 Gene

  • Chromosome 6 Open Reading Frame 48 2 3 5
  • G8 3 4
  • Protein G8 3
  • D6S57 3

External Ids for C6orf48 Gene

Previous GeneCards Identifiers for C6orf48 Gene

  • GC06U990225
  • GC06P031857
  • GC06P031573
  • GC06P031906
  • GC06P031910
  • GC06P031805
  • GC06P031806
  • GC06P031807
  • GC06P031808
  • GC06P031809
  • GC06P031810
  • GC06P031817
  • GC06P031825
  • GC06P031854

Summaries for C6orf48 Gene

GeneCards Summary for C6orf48 Gene

C6orf48 (Chromosome 6 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 C6orf48 Gene

Genomics for C6orf48 Gene

Regulatory Elements for C6orf48 Gene

Enhancers for C6orf48 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
GH06F031861 0.2 ENCODE 11.8 +29.5 29508 4.5 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF548 ZNF263 LY6G5B LSM2 MICA C4A SNORA38 ENSG00000233902 LOC102725019 DDX39B STK19B LY6G5C
GH06F031829 0.2 ENCODE 10.7 -0.5 -452 9.1 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 MEF2D GLIS1 ATF6B LSM2 LY6G5B DDX39B SKIV2L DXO GTF2H4 VARS LY6G6C CSNK2B
GH06F032369 0.9 ENCODE 5 +536.2 536182 2.6 JUN CEBPB RAD21 EP300 RFX5 JUND MAFF STAT3 RCOR1 FOS HLA-DRB1 HLA-DRB6 HLA-DQA2 RNF5 C4A HLA-DRB5 HLA-DQB2 LOC101929163 ATF6B TNXB
GH06F032271 0.5 Ensembl 5 +437.0 436994 0.8 MTA2 CBX5 TARDBP IKZF1 NBN TRIM22 IRF1 TBX21 SPI1 ATF6B TNXB RNF5 HLA-DRB1 SKIV2L C6orf48 GC06M032285 LOC101929163
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C6orf48 on UCSC Golden Path with GeneCards custom track

Promoters for C6orf48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000662344 992 3201 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 MEF2D NBN KDM1A

Genomic Location for C6orf48 Gene

Chromosome:
6
Start:
31,834,608 bp from pter
End:
31,839,766 bp from pter
Size:
5,159 bases
Orientation:
Plus strand

Genomic View for C6orf48 Gene

Genes around C6orf48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C6orf48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C6orf48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for C6orf48 Gene

  • Protein details for C6orf48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBA6-G8_HUMAN
    Recommended name:
    Protein G8
    Protein Accession:
    Q9UBA6
    Secondary Accessions:
    • Q9BW21
    • Q9UBA7
    • Q9UBA8

    Protein attributes for C6orf48 Gene

    Size:
    75 amino acids
    Molecular mass:
    8344 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAB56506.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=CAB56508.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};

neXtProt entry for C6orf48 Gene

Post-translational modifications for C6orf48 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C6orf48 Gene

Domains & Families for C6orf48 Gene

Protein Domains for C6orf48 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C6orf48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C6orf48: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C6orf48 Gene

Function for C6orf48 Gene

genes like me logo Genes that share phenotypes with C6orf48: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C6orf48 Gene

Localization for C6orf48 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C6orf48 Gene COMPARTMENTS Subcellular localization image for C6orf48 gene
Compartment Confidence
extracellular 2
cytosol 1
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C6orf48 Gene

Pathways & Interactions for C6orf48 Gene

SuperPathways for C6orf48 Gene

No Data Available

Interacting Proteins for C6orf48 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000364784%0d%0a9606.ENSP00000220592%0d%0a
Selected Interacting proteins: Q9UBA6-G8_HUMAN ENSP00000364784 for C6orf48 Gene via IID STRING

Gene Ontology (GO) - Biological Process for C6orf48 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C6orf48 Gene

Transcripts for C6orf48 Gene

Unigene Clusters for C6orf48 Gene

Chromosome 6 open reading frame 48:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C6orf48 Gene

No ASD Table

Relevant External Links for C6orf48 Gene

GeneLoc Exon Structure for
C6orf48
ECgene alternative splicing isoforms for
C6orf48

Expression for C6orf48 Gene

mRNA expression in normal human tissues for C6orf48 Gene

NURSA nuclear receptor signaling pathways regulating expression of C6orf48 Gene:

C6orf48

SOURCE GeneReport for Unigene cluster for C6orf48 Gene:

Hs.640836
genes like me logo Genes that share expression patterns with C6orf48: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C6orf48 Gene

Orthologs for C6orf48 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C6orf48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6H6orf48 34
  • 99.11 (n)
Species where no ortholog for C6orf48 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 C6orf48 Gene

ENSEMBL:
Gene Tree for C6orf48 (if available)
TreeFam:
Gene Tree for C6orf48 (if available)

Paralogs for C6orf48 Gene

No data available for Paralogs for C6orf48 Gene

Variants for C6orf48 Gene

Sequence variations from dbSNP and Humsavar for C6orf48 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10456397 -- 31,836,237(+) CTATA(A/T)TCCAT intron-variant, upstream-variant-2KB
rs111432088 -- 31,835,161(+) GAACT(C/T)GGCTA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs111527029 -- 31,834,531(+) GGGTA(A/G)CTGGA upstream-variant-2KB
rs112576236 -- 31,835,409(+) CCGTT(A/C)GGAGT intron-variant, downstream-variant-500B, upstream-variant-2KB, splice-acceptor-variant
rs113198480 -- 31,837,337(+) GAGAG(A/C)AGCTT downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for C6orf48 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10461n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
esv3608569 CNV loss 21293372
esv3608570 CNV loss 21293372
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259

Variation tolerance for C6orf48 Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C6orf48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C6orf48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C6orf48 Gene

Disorders for C6orf48 Gene

Relevant External Links for C6orf48

Genetic Association Database (GAD)
C6orf48
Human Genome Epidemiology (HuGE) Navigator
C6orf48
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C6orf48

No disorders were found for C6orf48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C6orf48 Gene

Publications for C6orf48 Gene

  1. HLA-linked heat-shock protein 70 (HSP70-2) gene polymorphism and celiac disease. (PMID: 8096093) Partanen J. … Koskimies S. (Tissue Antigens 1993) 2 3 4 64
  2. Common genetic variation and the control of HIV-1 in humans. (PMID: 20041166) Fellay J. … Goldstein D.B. (PLoS Genet. 2009) 3 46 64
  3. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3 64
  4. Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population. (PMID: 23079975) Pan Q. … Wang J.X. (Genet. Mol. Res. 2012) 3 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 64

Products for C6orf48 Gene

Sources for C6orf48 Gene

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