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Aliases for C19orf48 Gene

Aliases for C19orf48 Gene

  • Chromosome 19 Open Reading Frame 48 2 3
  • Multidrug Resistance-Related Protein 2 4

External Ids for C19orf48 Gene

Previous GeneCards Identifiers for C19orf48 Gene

  • GC19M055993
  • GC19M051300
  • GC19M047635

Summaries for C19orf48 Gene

GeneCards Summary for C19orf48 Gene

C19orf48 (Chromosome 19 Open Reading Frame 48) is a Protein Coding gene. Diseases associated with C19orf48 include intraocular lymphoma and eye lymphoma.

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 C19orf48 Gene

Genomics for C19orf48 Gene

Regulatory Elements for C19orf48 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C19orf48 Gene

Chromosome:
19
Start:
50,797,693 bp from pter
End:
50,804,929 bp from pter
Size:
7,237 bases
Orientation:
Minus strand

Genomic View for C19orf48 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C19orf48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf48 Gene

Proteins for C19orf48 Gene

  • Protein details for C19orf48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6RUI8-CS048_HUMAN
    Recommended name:
    Uncharacterized protein C19orf48
    Protein Accession:
    Q6RUI8

    Protein attributes for C19orf48 Gene

    Size:
    117 amino acids
    Molecular mass:
    13085 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C19orf48 Gene

Proteomics data for C19orf48 Gene at MOPED

Post-translational modifications for C19orf48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C19orf48 Gene

Domains & Families for C19orf48 Gene

Gene Families for C19orf48 Gene

Protein Domains for C19orf48 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C19orf48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C19orf48: view

No data available for UniProtKB/Swiss-Prot for C19orf48 Gene

Function for C19orf48 Gene

Phenotypes for C19orf48 Gene

genes like me logo Genes that share phenotypes with C19orf48: view

Animal Model Products

CRISPR Products

miRNA for C19orf48 Gene

miRTarBase miRNAs that target C19orf48

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C19orf48

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for C19orf48 Gene

Localization for C19orf48 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C19orf48 Gene COMPARTMENTS Subcellular localization image for C19orf48 gene
Compartment Confidence
golgi apparatus 1
nucleus 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C19orf48 Gene

Pathways & Interactions for C19orf48 Gene

SuperPathways for C19orf48 Gene

No Data Available

Interacting Proteins for C19orf48 Gene

Gene Ontology (GO) - Biological Process for C19orf48 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C19orf48 Gene

Drugs & Compounds for C19orf48 Gene

(7) Drugs for C19orf48 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Daunorubicin Approved Pharma 244
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1525
Probenecid Approved Pharma Activator 27
Verapamil Approved Pharma Inhibition, Inhibitor 112

(1) Additional Compounds for C19orf48 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
estrone sulfate
  • Conestoral
  • Estrogenic substances
  • Estrone
  • Estrone hydrogen sulfate
  • Estrone hydrogen sulphate
481-97-0
genes like me logo Genes that share compounds with C19orf48: view

Transcripts for C19orf48 Gene

Unigene Clusters for C19orf48 Gene

Chromosome 19 open reading frame 48:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C19orf48

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf48 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h · 8i · 8j · 8k
SP1: - - - - - -
SP2: - - - -
SP3: - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - -
SP9: - - - - -
SP10: - - -
SP11: - - -
SP12: - - - -

Relevant External Links for C19orf48 Gene

GeneLoc Exon Structure for
C19orf48
ECgene alternative splicing isoforms for
C19orf48

Expression for C19orf48 Gene

mRNA expression in normal human tissues for C19orf48 Gene

mRNA differential expression in normal tissues according to GTEx for C19orf48 Gene

This gene is overexpressed in Pancreas (x5.1) and Prostate (x4.4).

Protein differential expression in normal tissues from HIPED for C19orf48 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C19orf48 Gene



SOURCE GeneReport for Unigene cluster for C19orf48 Gene Hs.256301

genes like me logo Genes that share expression patterns with C19orf48: view

Protein tissue co-expression partners for C19orf48 Gene

- Elite partner

Primer Products

  • 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

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for C19orf48 Gene

Orthologs for C19orf48 Gene

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

Orthologs for C19orf48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf48 35
  • 98.29 (n)
  • 95.73 (a)
C19orf48 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2410002F23Rik 16
Species with no ortholog for C19orf48:
  • 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 C19orf48 Gene

ENSEMBL:
Gene Tree for C19orf48 (if available)
TreeFam:
Gene Tree for C19orf48 (if available)

Paralogs for C19orf48 Gene

No data available for Paralogs for C19orf48 Gene

Variants for C19orf48 Gene

Sequence variations from dbSNP and Humsavar for C19orf48 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs9991 -- 50,797,973(-) GGTAC(C/T)GGAAG utr-variant-3-prime
rs266119 -- 50,797,279(-) TTGCT(G/T)TGTGT downstream-variant-500B
rs788891 -- 50,806,607(-) cttgt(A/C)gtctt upstream-variant-2KB
rs2247216 -- 50,804,576(-) AAATG(A/C/T)TGGGG utr-variant-5-prime, upstream-variant-2KB
rs2247289 -- 50,804,835(-) GCAGG(G/T)GACAA utr-variant-5-prime, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C19orf48 Gene

Variant ID Type Subtype PubMed ID
dgv3977n71 CNV Loss 21882294
dgv203n21 CNV Loss 19592680

Variation tolerance for C19orf48 Gene

Residual Variation Intolerance Score: 87.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.47; 77.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C19orf48 Gene

HapMap Linkage Disequilibrium report
C19orf48
Human Gene Mutation Database (HGMD)
C19orf48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf48 Gene

Disorders for C19orf48 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C19orf48 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
intraocular lymphoma
  • primary intraocular lymphoma
eye lymphoma
  • lymphoma of eye
- elite association

Relevant External Links for C19orf48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C19orf48
genes like me logo Genes that share disorders with C19orf48: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C19orf48 Gene

Publications for C19orf48 Gene

  1. Research in practice: the second barrier of the human skin. (PMID: 19751223) Baron J.M. … Skazik C. (J Dtsch Dermatol Ges 2010) 23 67
  2. Effects of kaempferol on the mechanisms of drug resistance in the human glioblastoma cell line T98G. (PMID: 20503933) Nakatsuma A. … Hidaka S. (Pharmazie 2010) 23 67
  3. P-glycoprotein mediates efflux transport of darunavir in human intestinal Caco-2 and ABCB1 gene-transfected renal LLC-PK1 cell lines. (PMID: 19721237) Fujimoto H. … Saito H. (Biol. Pharm. Bull. 2009) 23 67
  4. P-glycoprotein-mediated transport of moxifloxacin in a Calu-3 lung epithelial cell model. (PMID: 19188390) Brillault J. … Couet W. (Antimicrob. Agents Chemother. 2009) 23 67
  5. Synthesis of 2-fluoro N(10)-substituted acridones and their cytotoxicity studies in sensitive and resistant cancer cell lines and their DNA intercalation studies. (PMID: 19856333) Mayur Y.C. … Prasad V.V. (Arch. Pharm. (Weinheim) 2009) 23 67

Products for C19orf48 Gene

Sources for C19orf48 Gene

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