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Aliases for C6orf48 Gene

Aliases for C6orf48 Gene

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

External Ids for C6orf48 Gene

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

Genomic Location for C6orf48 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C6orf48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for C6orf48 Gene

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

Proteomics data for C6orf48 Gene at MOPED

Post-translational modifications for C6orf48 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C6orf48 Gene

Domains for C6orf48 Gene

Protein Domains for C6orf48 Gene

ProtoNet:
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

Phenotypes for C6orf48 Gene

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting 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 Gene Ontology (GO) - Cellular Components for C6orf48 Gene

Pathways 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: ENSP00000364784 Q9UBA6-G8_HUMAN for C6orf48 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for C6orf48 Gene

None

No data available for Pathways by source for C6orf48 Gene

Transcripts for C6orf48 Gene

Unigene Clusters for C6orf48 Gene

Chromosome 6 open reading frame 48:
Representative Sequences:

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

SOURCE GeneReport for Unigene cluster for C6orf48 Gene Hs.640836

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

Orthologs for C6orf48 Gene

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

Orthologs for C6orf48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6H6orf48 36
  • 99.11 (n)
  • 97.33 (a)
mouse
(Mus musculus)
Mammalia 1110038B12Rik 16
Species with no ortholog for C6orf48:
  • 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)
  • 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 MAF
rs628357 -- 31,838,821(-) gttgg(C/T)caggc intron-variant
rs733539 -- 31,839,712(-) TACTT(A/G)TATAT utr-variant-3-prime
rs2471980 -- 31,833,091(-) CATTA(C/G)GGTGG upstream-variant-2KB
rs3130478 -- 31,838,136(+) agtcc(C/T)ggcta intron-variant
rs3130679 -- 31,839,763(+) TAAAG(A/G)AGACG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv6583n71 CNV Loss 21882294
dgv6590n71 CNV Loss 21882294
dgv6592n71 CNV Loss 21882294
dgv6593n71 CNV Loss 21882294

Relevant External Links for C6orf48 Gene

HapMap Linkage Disequilibrium report
C6orf48

Disorders for C6orf48 Gene

Relevant External Links for C6orf48

Genetic Association Database (GAD)
C6orf48
Human Genome Epidemiology (HuGE) Navigator
C6orf48
genes like me logo Genes that share disorders with C6orf48: view

No data available for UniProtKB/Swiss-Prot 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
  2. Common genetic variation and the control of HIV-1 in humans. (PMID: 20041166) Fellay J. … Goldstein D.B. (PLoS Genet. 2009) 3 49
  3. 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
  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
  5. 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

Products for C6orf48 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate C6orf48
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for C6orf48
    • Block miRNA regulation of C6orf48 using miScript Target Protectors

    Sources for C6orf48 Gene

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