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Aliases for C2orf54 Gene

Aliases for C2orf54 Gene

  • Chromosome 2 Open Reading Frame 54 2 3 5

External Ids for C2orf54 Gene

Previous GeneCards Identifiers for C2orf54 Gene

  • GC02M241474
  • GC02M241825
  • GC02M233586

Summaries for C2orf54 Gene

GeneCards Summary for C2orf54 Gene

C2orf54 (Chromosome 2 Open Reading Frame 54) is a Protein Coding gene. An important paralog of this gene is MAB21L3.

Additional gene information for C2orf54 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 C2orf54 Gene

Genomics for C2orf54 Gene

GeneHancer (GH) Regulatory Elements for C2orf54 Gene

Promoters and enhancers for C2orf54 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
GH02I240895 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 571.6 -0.5 -456 3.9 PKNOX1 ARID4B KLF17 ZNF48 RAD21 RARA ZEB1 GLIS2 FOS RXRA C2orf54 AGXT CROCC2
GH02I240892 Promoter/Enhancer 0.9 EPDnew dbSUPER 568.9 +4.8 4834 0.1 NFIC ZIC2 C2orf54 ENSG00000229996 AGXT
GH02I240912 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.2 -18.7 -18735 5.8 ARID4B KLF17 ZNF76 ZNF2 RAD21 GLIS2 ZNF143 FOS THAP11 ZNF654 C2orf54 AGXT ENSG00000223991 SNED1 GPC1 RNPEPL1 CROCC2 GC02M240925
GH02I240817 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 14.3 +77.1 77132 3.7 KLF17 SIN3A ZNF335 GLIS2 SCRT2 EGR2 ZNF398 GLIS1 ZNF341 WT1 KIF1A C2orf54 AGXT MTERF4 GC02P240756
GH02I240873 Enhancer 0.9 ENCODE 19 +21.5 21534 3.6 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 RXRA SP5 NFYC ZHX2 C2orf54 ING5 ATG4B ENSG00000235351 MTERF4 CAPN10-AS1 CAPN10 AGXT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2orf54 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf54 gene promoter:

Genomic Locations for C2orf54 Gene

Genomic Locations for C2orf54 Gene
10,842 bases
Minus strand

Genomic View for C2orf54 Gene

Genes around C2orf54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf54 Gene

Proteins for C2orf54 Gene

  • Protein details for C2orf54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C2orf54
    Protein Accession:
    Secondary Accessions:
    • B3KPP9
    • H7BXM3
    • Q08AI9
    • Q53QU5
    • Q9H622

    Protein attributes for C2orf54 Gene

    447 amino acids
    Molecular mass:
    49565 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C2orf54 Gene


neXtProt entry for C2orf54 Gene

Post-translational modifications for C2orf54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2orf54 Gene

No data available for DME Specific Peptides for C2orf54 Gene

Domains & Families for C2orf54 Gene

Gene Families for C2orf54 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C2orf54 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2orf54: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C2orf54 Gene

Function for C2orf54 Gene

Phenotypes From GWAS Catalog for C2orf54 Gene

Phenotypes for C2orf54 Gene

genes like me logo Genes that share phenotypes with C2orf54: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C2orf54 Gene

Localization for C2orf54 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 C2orf54 gene
Compartment Confidence
nucleus 2
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C2orf54 Gene

Pathways & Interactions for C2orf54 Gene

SuperPathways for C2orf54 Gene

No Data Available

Interacting Proteins for C2orf54 Gene

Selected Interacting proteins: Q08AI8-CB054_HUMAN for C2orf54 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for C2orf54 Gene


No data available for Pathways by source and SIGNOR curated interactions for C2orf54 Gene

Drugs & Compounds for C2orf54 Gene

No Compound Related Data Available

Transcripts for C2orf54 Gene

mRNA/cDNA for C2orf54 Gene

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

Unigene Clusters for C2orf54 Gene

Chromosome 2 open reading frame 54:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf54 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: - -
SP3: -
SP4: - - - - - -
SP5: - -
SP6: -

Relevant External Links for C2orf54 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C2orf54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf54 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C2orf54 Gene

This gene is overexpressed in Esophagus - Mucosa (x23.1), Vagina (x6.8), Skin - Not Sun Exposed (Suprapubic) (x5.1), Skin - Sun Exposed (Lower leg) (x4.9), and Minor Salivary Gland (x4.1).

Protein differential expression in normal tissues from HIPED for C2orf54 Gene

This gene is overexpressed in Cervix (58.6) and Saliva (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C2orf54 Gene

Protein tissue co-expression partners for C2orf54 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C2orf54 Gene:


SOURCE GeneReport for Unigene cluster for C2orf54 Gene:

genes like me logo Genes that share expression patterns with C2orf54: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf54 Gene

Orthologs for C2orf54 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2orf54 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C2BH2orf54 33
  • 99.4 (n)
C2orf54 34
  • 99 (a)
(Canis familiaris)
Mammalia C25H2orf54 33
  • 85.02 (n)
-- 34
  • 80 (a)
-- 34
  • 79 (a)
(Bos Taurus)
Mammalia C3H2orf54 33
  • 82.85 (n)
C2orf54 34
  • 75 (a)
(Mus musculus)
Mammalia 2310007B03Rik 33 16 34
  • 79.79 (n)
(Rattus norvegicus)
Mammalia RGD1563692 33
  • 78.82 (n)
(Ornithorhynchus anatinus)
Mammalia C2orf54 34
  • 65 (a)
(Monodelphis domestica)
Mammalia C2orf54 34
  • 63 (a)
(Gallus gallus)
Aves C2ORF54 33
  • 62.56 (n)
C2orf54 34
  • 47 (a)
(Anolis carolinensis)
Reptilia C2orf54 34
  • 48 (a)
Species where no ortholog for C2orf54 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 C2orf54 Gene

Gene Tree for C2orf54 (if available)
Gene Tree for C2orf54 (if available)

Paralogs for C2orf54 Gene

Paralogs for C2orf54 Gene

genes like me logo Genes that share paralogs with C2orf54: view

Variants for C2orf54 Gene

Sequence variations from dbSNP and Humsavar for C2orf54 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000048060 -- 240,888,003(-) G/T intron_variant
rs1000161998 -- 240,887,721(-) G/C intron_variant
rs1000189270 -- 240,885,755(-) T/G downstream_transcript_variant
rs1000197132 -- 240,892,415(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000277078 -- 240,886,095(-) G/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf54 Gene

Variant ID Type Subtype PubMed ID
dgv7376n54 CNV loss 21841781
esv2721955 CNV deletion 23290073
nsv460167 CNV gain 19166990
nsv460168 CNV loss 19166990
nsv470531 CNV loss 18288195
nsv519993 CNV loss 19592680
nsv584861 CNV gain 21841781
nsv584886 CNV loss 21841781
nsv955294 CNV deletion 24416366

Variation tolerance for C2orf54 Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.20; 69.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf54 Gene

Disorders for C2orf54 Gene

Additional Disease Information for C2orf54

No disorders were found for C2orf54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf54 Gene

Publications for C2orf54 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58
  4. 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) 4 58
  5. 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) 3 58

Products for C2orf54 Gene

Sources for C2orf54 Gene

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