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Aliases for C19orf48 Gene

Aliases for C19orf48 Gene

  • Chromosome 19 Open Reading Frame 48 2 3 5
  • 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

Enhancers for C19orf48 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
GH19F050794 1.2 Ensembl ENCODE 20.4 +10.2 10229 1.0 PKNOX1 SREBF2 INSM2 GLI4 RAD21 ZNF121 GLIS2 ELK1 ZNF366 DEK C19orf48 NUP62 NR1H2 AKT1S1 POLD1 LINC01869 ENSG00000268375 GC19M050822
GH19F050835 1.7 FANTOM5 Ensembl ENCODE 11.8 -31.3 -31318 1.7 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 YY1 ZNF766 ZNF143 ENSG00000268375 GPR32 SIGLEC21P LOC100133225 ENSG00000269021 ENSG00000268595 LINC01872 ENSG00000268889 NUP62 PTOV1-AS2
GH19F050720 1.5 FANTOM5 ENCODE 12.2 +81.6 81573 5.7 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF766 FOS KLF13 ZNF263 CLEC11A C19orf48 GPR32 SNORD88A SNORD88B SNORD88C LINC01869 KLK1 KLK15 SPACA6P-AS
GH19F050357 1.5 FANTOM5 ENCODE 10.3 +446.4 446378 2.9 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B ZNF2 YY1 ZNF143 ZNF207 NAPSB POLD1 AKT1S1 PRR12 PIH1D1 KCNC3 NUP62 NR1H2 CTU1 FLT3LG
GH19F050555 1.5 FANTOM5 Ensembl ENCODE 10 +248.4 248388 2.0 HDGF ATF1 SIN3A ZNF48 ZNF2 ZNF121 GLIS2 ZNF143 ZNF207 SP3 ASPDH JOSD2 LINC01869 C19orf48 SNORD88C KLK4 C19orf81 SYT3 ACPT LRRC4B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C19orf48 on UCSC Golden Path with GeneCards custom track

Promoters for C19orf48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000348441 429 2600 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

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

Genes around C19orf48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C19orf48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

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

Animal Model Products

miRNA for C19orf48 Gene

miRTarBase miRNAs that target C19orf48

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 C19orf48 Gene

Localization for C19orf48 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 C19orf48 gene
Compartment Confidence
extracellular 3
plasma membrane 1
nucleus 1
cytosol 1
golgi apparatus 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

(8) Drugs for C19orf48 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for C19orf48 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C19orf48 Gene:

C19orf48

SOURCE GeneReport for Unigene cluster for C19orf48 Gene:

Hs.256301
genes like me logo Genes that share expression patterns with C19orf48: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for C19orf48 Gene

Orthologs for C19orf48 Gene

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

Orthologs for C19orf48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf48 34
  • 98.29 (n)
C19orf48 35
  • 96 (a)
OneToOne
Species where no ortholog for C19orf48 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 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
rs10401588 -- 50,802,030(+) ACCTC(A/G)GCCTC intron-variant, downstream-variant-500B
rs10405938 -- 50,798,950(+) TGTCT(C/G)GAGGG intron-variant, downstream-variant-500B, utr-variant-5-prime
rs1043315 -- 50,798,897(-) GAAAG(C/T)GCTGC downstream-variant-500B, utr-variant-5-prime
rs10853825 -- 50,803,691(+) ACTTG(C/T)GACAT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs111316717 -- 50,800,916(+) GCCAC(A/G)GTTCC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1140251 OTHER inversion 24896259
dgv203n21 CNV loss 19592680

Variation tolerance for C19orf48 Gene

Residual Variation Intolerance Score: 87.7% 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

Human Gene Mutation Database (HGMD)
C19orf48
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 - COSMIC cancer census association via MalaCards

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. C19orf48 encodes a minor histocompatibility antigen recognized by CD8+ cytotoxic T cells from renal cell carcinoma patients. (PMID: 18698046) Tykodi S.S. … Warren E.H. (Clin. Cancer Res. 2008) 2 3 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. [Cloning and sequence analysis of a new, full-length cDNA fragment of drug resistance-related gene in human lung adenocarcinoma]. (PMID: 12452007) Zhou X.D. … Chen J. (Ai Zheng 2002) 2 3 64
  4. Translation of 5' leaders is pervasive in genes resistant to eIF2 repression. (PMID: 25621764) Andreev D.E. … Baranov P.V. (Elife 2015) 3 64
  5. The human lung cancer drug resistance-related gene BC006151 regulates chemosensitivity in H446/CDDP cells. (PMID: 20686220) Li S. … Qian G. (Biol. Pharm. Bull. 2010) 3 64

Products for C19orf48 Gene

Sources for C19orf48 Gene

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