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Aliases for C2orf48 Gene

Aliases for C2orf48 Gene

  • Chromosome 2 Open Reading Frame 48 2 3

External Ids for C2orf48 Gene

Previous GeneCards Identifiers for C2orf48 Gene

  • GC02P010281

Summaries for C2orf48 Gene

GeneCards Summary for C2orf48 Gene

C2orf48 (Chromosome 2 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 C2orf48 Gene

Genomics for C2orf48 Gene

Regulatory Elements for C2orf48 Gene

Genomic Location for C2orf48 Gene

Chromosome:
2
Start:
10,141,382 bp from pter
End:
10,211,730 bp from pter
Size:
70,349 bases
Orientation:
Plus strand

Genomic View for C2orf48 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for C2orf48 Gene

Proteins for C2orf48 Gene

  • Protein details for C2orf48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LS8-CB048_HUMAN
    Recommended name:
    Uncharacterized protein C2orf48
    Protein Accession:
    Q96LS8

    Protein attributes for C2orf48 Gene

    Size:
    159 amino acids
    Molecular mass:
    17367 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2orf48 Gene

Proteomics data for C2orf48 Gene at MOPED

Post-translational modifications for C2orf48 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf48 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for C2orf48 Gene

Domains & Families for C2orf48 Gene

Protein Domains for C2orf48 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf48: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf48 Gene

Function for C2orf48 Gene

genes like me logo Genes that share phenotypes with C2orf48: view

Animal Model Products

CRISPR Products

miRNA for C2orf48 Gene

miRTarBase miRNAs that target C2orf48

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C2orf48

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 C2orf48 Gene

Localization for C2orf48 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for C2orf48 Gene

Pathways & Interactions for C2orf48 Gene

SuperPathways for C2orf48 Gene

No Data Available

Interacting Proteins for C2orf48 Gene

Gene Ontology (GO) - Biological Process for C2orf48 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C2orf48 Gene

Drugs & Compounds for C2orf48 Gene

No Compound Related Data Available

Transcripts for C2orf48 Gene

mRNA/cDNA for C2orf48 Gene

Unigene Clusters for C2orf48 Gene

Chromosome 2 open reading frame 48:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C2orf48

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf48 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for C2orf48 Gene

GeneLoc Exon Structure for
C2orf48
ECgene alternative splicing isoforms for
C2orf48

Expression for C2orf48 Gene

mRNA expression in normal human tissues for C2orf48 Gene

mRNA differential expression in normal tissues according to GTEx for C2orf48 Gene

This gene is overexpressed in Whole Blood (x5.8).

Protein differential expression in normal tissues from HIPED for C2orf48 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C2orf48 Gene



SOURCE GeneReport for Unigene cluster for C2orf48 Gene Hs.454981

genes like me logo Genes that share expression patterns with C2orf48: view

Protein tissue co-expression partners for C2orf48 Gene

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 in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for C2orf48 Gene

Orthologs for C2orf48 Gene

Evolution for C2orf48 Gene

ENSEMBL:
Gene Tree for C2orf48 (if available)
TreeFam:
Gene Tree for C2orf48 (if available)

No data available for Orthologs for C2orf48 Gene

Paralogs for C2orf48 Gene

No data available for Paralogs for C2orf48 Gene

Variants for C2orf48 Gene

Sequence variations from dbSNP and Humsavar for C2orf48 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs729917 -- 10,144,188(+) CCCCA(A/G)CTCTG intron-variant
rs741263 -- 10,188,203(-) ACCAC(C/T)GGGCT intron-variant
rs759342 -- 10,144,665(+) CCTTT(C/T)GAACG intron-variant
rs759348 -- 10,204,133(+) CTACC(A/G)TCATT intron-variant
rs878170 -- 10,208,222(-) CAGTC(A/T)CCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf48 Gene

Variant ID Type Subtype PubMed ID
dgv4049n71 CNV Loss 21882294
nsv873636 CNV Loss 21882294
esv2719634 CNV Deletion 23290073
nsv818977 CNV Gain 17921354
esv2719635 CNV Deletion 23290073
esv2176584 CNV Deletion 18987734
esv2719636 CNV Deletion 23290073
dgv146e55 CNV Gain 17911159
dgv1147e1 CNV Complex 17122850
dgv4050n71 CNV Loss 21882294

Variation tolerance for C2orf48 Gene

Residual Variation Intolerance Score: 50.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.37; 42.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C2orf48 Gene

HapMap Linkage Disequilibrium report
C2orf48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf48 Gene

Disorders for C2orf48 Gene

Relevant External Links for C2orf48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2orf48
genes like me logo Genes that share disorders with C2orf48: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf48 Gene

Publications for C2orf48 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles R.A. … Easton D.F. (Nat. Genet. 2013) 67
  4. 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) 67
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 67

Products for C2orf48 Gene

Sources for C2orf48 Gene

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