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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.

Additional gene information for C19orf48 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for C19orf48 Gene

Promoters and enhancers for C19orf48 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I050802 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 559.4 +0.6 646 4.2 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 C19orf48 GC19M050829 GC19M050838 SNORD88C POLD1 PTOV1-AS2 NUP62 PNKP ZNF175 CTU1
GH19I050720 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 12.2 +81.6 81573 5.7 HDGF SIN3A ZNF2 ZBTB7B POLR2B CBX5 E2F8 FOS KLF13 SP3 CLEC11A C19orf48 GPR32 AKT1S1 SNORD88A SNORD88B SNORD88C LINC01869 NUP62 KLK1
GH19I049926 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 +876.0 875972 4.8 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NUP62 ATF5 IL4I1 POLD1 IRF3 SNORD35A SNORD35B ALDH16A1 PNKP PTOV1-AS2
GH19I049849 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 +953.8 953774 3.7 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 GC19M049851 PIR43463 PIR35655 PTOV1 PTOV1-AS1 PRR12 IRF3 SNRNP70 PIH1D1 SNORD35A
GH19I050797 Enhancer 1.1 Ensembl ENCODE 20.5 +10.3 10328 0.4 HNRNPUL1 PKNOX1 RB1 INSM2 GLI4 RAD21 IRF4 ZNF121 POLR2B GLIS2 ENSG00000261341 ENSG00000268375 LOC105372439 C19orf48 POLD1 ZNF175 CTU1 PTOV1-AS2 NUP62 NR1H2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C19orf48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C19orf48 gene promoter:

Genomic Locations for C19orf48 Gene

Genomic Locations for C19orf48 Gene
7,237 bases
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:
    Recommended name:
    Uncharacterized protein C19orf48
    Protein Accession:

    Protein attributes for C19orf48 Gene

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

neXtProt entry for C19orf48 Gene

Post-translational modifications for C19orf48 Gene

No Post-translational modifications

No data available for DME Specific Peptides for C19orf48 Gene

Domains & Families for C19orf48 Gene

Gene Families for C19orf48 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C19orf48 Gene


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 From GWAS Catalog 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

Inhibitory RNA Products

Clone 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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

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

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000301419 for C19orf48 Gene via STRING

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for C19orf48 Gene


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:

CRISPR Products

Inhibitory RNA Products

Clone 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
ECgene alternative splicing isoforms for

Expression for C19orf48 Gene

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


SOURCE GeneReport for Unigene cluster for C19orf48 Gene:


Evidence on tissue expression from TISSUES for C19orf48 Gene

  • Nervous system(3.2)
  • Lung(2.8)
  • Eye(2.4)
  • Intestine(2.4)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia C19H19orf48 33
  • 98.29 (n)
C19orf48 34
  • 96 (a)
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

Gene Tree for C19orf48 (if available)
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 Variation AA Info Type
rs1000202670 -- 50,803,817(-) C/T 5_prime_UTR_variant, intron_variant
rs1000507527 -- 50,800,465(-) G/A intron_variant
rs1000823791 -- 50,800,676(-) A/C intron_variant
rs1001069952 -- 50,804,600(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1001834226 -- 50,801,528(-) T/A intron_variant

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)

Additional Variant Information for C19orf48 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for C19orf48 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C19orf48 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
intraocular lymphoma
  • primary intraocular lymphoma
eye lymphoma
  • lymphoma of eye
parathyroid adenoma
  • adenoma of parathyroid
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 SS … Warren EH (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 2 3 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. [Cloning and sequence analysis of a new, full-length cDNA fragment of drug resistance-related gene in human lung adenocarcinoma]. (PMID: 12452007) Zhou XD … Chen J (Ai zheng = Aizheng = Chinese journal of cancer 2002) 2 3 58
  4. Translation of 5' leaders is pervasive in genes resistant to eIF2 repression. (PMID: 25621764) Andreev DE … Baranov PV (eLife 2015) 3 58
  5. The human lung cancer drug resistance-related gene BC006151 regulates chemosensitivity in H446/CDDP cells. (PMID: 20686220) Li S … Qian G (Biological & pharmaceutical bulletin 2010) 3 58

Products for C19orf48 Gene

Sources for C19orf48 Gene

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