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Aliases for C2orf48 Gene

Aliases for C2orf48 Gene

  • Chromosome 2 Open Reading Frame 48 2 3 5

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.

Additional gene information for C2orf48 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 C2orf48 Gene

Genomics for C2orf48 Gene

GeneHancer (GH) Regulatory Elements for C2orf48 Gene

Promoters and enhancers for C2orf48 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
GH02I010429 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +291.5 291478 5.8 HDGF PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A YBX1 FEZF1 ZBTB7B TAF1B LOC101929882 KLF11 NOL10 C2orf48 ENSG00000217258 YWHAQ ENSG00000239300 CYS1 ENSG00000233502
GH02I010118 Enhancer 0.8 FANTOM5 ENCODE 11.4 -23.1 -23062 0.2 ELF3 MEIS2 PKNOX1 POLR2A GABPB1 RUNX3 ENSG00000233502 CYS1 C2orf48 HPCAL1 RRM2 GC02M010090 ENSG00000212558
GH02I010116 Enhancer 0.6 Ensembl 11.4 -25.1 -25081 0.2 SAP130 HLF JUNB CEBPB BATF EP300 ATF2 NFIL3 CEBPA IKZF1 ENSG00000233502 CYS1 C2orf48 HPCAL1 RRM2 GC02M010090 ENSG00000212558
GH02I010117 Enhancer 0.4 ENCODE 11.4 -23.8 -23776 0.5 SREBF1 GATA3 DPF2 ENSG00000233502 CYS1 C2orf48 HPCAL1 RRM2 ENSG00000212558 GC02M010090
GH02I010361 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 1.6 +220.1 220103 0.3 ZFHX2 RCOR1 EGR2 HPCAL1 SNORA80B C2orf48 PIR41580
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2orf48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf48 gene promoter:

Genomic Locations for C2orf48 Gene

Genomic Locations for C2orf48 Gene
70,349 bases
Plus strand

Genomic View for C2orf48 Gene

Genes around C2orf48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf48 Gene

Proteins for C2orf48 Gene

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

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C2orf48
    Protein Accession:

    Protein attributes for C2orf48 Gene

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

neXtProt entry for C2orf48 Gene

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


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

Phenotypes From GWAS Catalog for C2orf48 Gene

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

miRNA for C2orf48 Gene

miRTarBase miRNAs that target C2orf48

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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 C2orf48 Gene

Localization for C2orf48 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 C2orf48 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) 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

Selected Interacting proteins: Q96LS8-CB048_HUMAN for C2orf48 Gene via IID

Gene Ontology (GO) - Biological Process for C2orf48 Gene


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

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2orf48 Gene

Chromosome 2 open reading frame 48:
Representative Sequences:

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

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

Relevant External Links for C2orf48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C2orf48 Gene

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

Protein tissue co-expression partners for C2orf48 Gene

NURSA nuclear receptor signaling pathways regulating expression of C2orf48 Gene:


SOURCE GeneReport for Unigene cluster for C2orf48 Gene:

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf48 Gene

Orthologs for C2orf48 Gene

Evolution for C2orf48 Gene

Gene Tree for C2orf48 (if available)
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 Variation AA Info Type
rs1000067893 -- 10,189,924(+) A/G intron_variant
rs1000096638 -- 10,192,944(+) G/A intron_variant
rs1000127073 -- 10,152,610(+) G/C intron_variant
rs1000191125 -- 10,167,720(+) C/T intron_variant
rs1000229118 -- 10,139,762(+) AGAGAG/AG/AGAG upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv146e55 CNV gain 17911159
esv2176584 CNV deletion 18987734
esv2719634 CNV deletion 23290073
esv2719635 CNV deletion 23290073
esv2719636 CNV deletion 23290073
esv2759024 CNV gain 17122850
esv3372133 CNV duplication 20981092
esv3589793 CNV gain 21293372
nsv1072921 CNV deletion 25765185
nsv1117229 CNV tandem duplication 24896259
nsv818977 CNV gain 17921354
nsv954759 CNV deletion 24416366

Variation tolerance for C2orf48 Gene

Residual Variation Intolerance Score: 50.6% 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)

Additional Variant Information for C2orf48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for C2orf48 Gene

Additional Disease Information for C2orf48

No disorders were found for C2orf48 Gene.

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

Publications for C2orf48 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for C2orf48 Gene

Sources for C2orf48 Gene

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