Aliases for C19orf48 Gene

Aliases for C19orf48 Gene

  • Chromosome 19 Open Reading Frame 48 2 5
  • Multidrug Resistance-Related Protein 2 3 4
  • Uncharacterized Protein C19orf48 3 4
  • CA916798 3
  • C19orf48 5
  • MGC13170 2
  • BC006151 2

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 Pseudogene. Diseases associated with C19orf48 include Intraocular Lymphoma and Parathyroid Adenoma.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C19orf48 Gene

Genomics for C19orf48 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C19orf48 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C19orf48 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C19orf48

Top Transcription factor binding sites by QIAGEN in the C19orf48 gene promoter:
  • MZF-1
  • NF-1
  • NF-kappaB
  • NF-kappaB1
  • Olf-1

Genomic Locations for C19orf48 Gene

Latest Assembly
chr19:50,797,704-50,804,929
(GRCh38/hg38)
Size:
7,226 bases
Orientation:
Minus strand

Previous Assembly
chr19:51,300,950-51,308,110
(GRCh37/hg19 by Entrez Gene)
Size:
7,161 bases
Orientation:
Minus strand

chr19:51,300,961-51,308,186
(GRCh37/hg19 by Ensembl)
Size:
7,226 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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C19orf48 Gene

GenScript: Design optimal peptide antigens:
  • Multidrug resistance-related protein (CS048_HUMAN)
genes like me logo Genes that share domains with C19orf48: view

No data available for Graphical View of Domain Structure and 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

miRNA for C19orf48 Gene

miRTarBase miRNAs that target C19orf48

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C19orf48

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 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 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

PathCards logo

SuperPathways for C19orf48 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C19orf48 Gene

None

No data available for Pathways by source , Interacting Proteins 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

mRNA/cDNA for C19orf48 Gene

10 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C19orf48

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

Expression for C19orf48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C19orf48 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C19orf48

SOURCE GeneReport for Unigene cluster for C19orf48 Gene:

Hs.256301

Evidence on tissue expression from TISSUES for C19orf48 Gene

  • Nervous system(3.6)
  • Intestine(2.6)
  • Lung(2.6)
  • Skin(2.5)
  • Eye(2.4)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with C19orf48: view

Primer products for research

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia C19H19orf48 30
  • 98.29 (n)
C19orf48 31
  • 96 (a)
OneToOne
Species where no ortholog for C19orf48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C19orf48 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs4801853 - p.Gly104Glu
rs4802741 - p.Arg84Cys
rs7251816 - p.Val7Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C19orf48 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)
C19orf48
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C19orf48

SNP Genotyping and Copy Number Assays for research

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: COP and GCD

Disorder Aliases PubMed IDs
intraocular lymphoma
  • primary intraocular lymphoma
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
  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
  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
  4. CA916798 affects growth and metastasis of androgen-dependent prostate cancer cells. (PMID: 30058677) He J … Zhou XD (European review for medical and pharmacological sciences 2018) 3
  5. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. (PMID: 28625976) Hou P … Huang J (Cancer research 2017) 3

Products for C19orf48 Gene

  • Biorbyt antibodies for C19orf48

Sources for C19orf48 Gene