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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.

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 C2orf54 Gene

Genomics for C2orf54 Gene

Regulatory Elements for C2orf54 Gene

Enhancers for C2orf54 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F240895 0.8 Ensembl ENCODE 21.6 -0.5 -456 3.9 PKNOX1 KLF17 ARID4B ZNF48 RAD21 ZEB1 RARA GLIS2 FOS SP5 C2orf54 AGXT CROCC2
GH02F240893 0.5 Ensembl 20.3 +3.1 3111 0.8 CTCF ESRRA PKNOX1 BACH1 CDC5L ZNF316 ZFHX2 NFE2 FOS MAFK C2orf54 AGXT
GH02F240873 0.9 ENCODE 19 +21.5 21535 3.6 ATF1 MLX ARID4B DMAP1 YBX1 ZNF48 YY1 SLC30A9 ZNF143 SP5 C2orf54 ENSG00000235351 CAPN10-AS1 AGXT
GH02F240912 1.2 FANTOM5 Ensembl ENCODE 16.2 -18.7 -18735 5.8 ZNF76 KLF17 ARID4B ZNF2 RAD21 GLIS2 ZNF143 FOS THAP11 ZNF654 C2orf54 AGXT ENSG00000223991 SNED1 GPC1 RNPEPL1 CROCC2 GC02M240925
GH02F240818 0.5 ENCODE 14.3 +77.6 77590 1.7 KLF1 PKNOX1 SUZ12 KLF17 ZNF316 GATA3 GLIS2 POLR2A KLF8 MAFK C2orf54 MTERF4 KIF1A GC02P240756
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C2orf54 on UCSC Golden Path with GeneCards custom track

Genomic Location for C2orf54 Gene

Chromosome:
2
Start:
240,886,048 bp from pter
End:
240,896,889 bp from pter
Size:
10,842 bases
Orientation:
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:
    Q08AI8-CB054_HUMAN
    Recommended name:
    Uncharacterized protein C2orf54
    Protein Accession:
    Q08AI8
    Secondary Accessions:
    • B3KPP9
    • H7BXM3
    • Q08AI9
    • Q53QU5
    • Q9H622

    Protein attributes for C2orf54 Gene

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

    Alternative splice isoforms for C2orf54 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for C2orf54 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for C2orf54 Gene

Phenotypes for C2orf54 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for C2orf54 Gene COMPARTMENTS Subcellular localization image for C2orf54 gene
Compartment Confidence
golgi apparatus 2
nucleus 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

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
RAD23B

Gene Ontology (GO) - Biological Process for C2orf54 Gene

None

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - -
SP2:
SP3: -
SP4: - - - - - -
SP5: - -
SP6: -

Relevant External Links for C2orf54 Gene

GeneLoc Exon Structure for
C2orf54
ECgene alternative splicing isoforms for
C2orf54

Expression for C2orf54 Gene

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

C2orf54

SOURCE GeneReport for Unigene cluster for C2orf54 Gene:

Hs.193745
genes like me logo Genes that share expression patterns with C2orf54: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia C2BH2orf54 34
  • 99.4 (n)
C2orf54 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C25H2orf54 34
  • 85.02 (n)
-- 35
  • 80 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C3H2orf54 34
  • 82.85 (n)
C2orf54 35
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2310007B03Rik 34 16 35
  • 79.79 (n)
rat
(Rattus norvegicus)
Mammalia RGD1563692 34
  • 78.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf54 35
  • 65 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2orf54 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2ORF54 34
  • 62.56 (n)
C2orf54 35
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf54 35
  • 48 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C2orf54 (if available)
TreeFam:
Gene Tree for C2orf54 (if available)

Paralogs for C2orf54 Gene

No data available for Paralogs for C2orf54 Gene

Variants for C2orf54 Gene

Sequence variations from dbSNP and Humsavar for C2orf54 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10164559 -- 240,889,840(+) GCCAC(A/G)GCCTC intron-variant
rs10169870 -- 240,896,369(+) TTGCC(A/G)CTGGA intron-variant, upstream-variant-2KB
rs10171053 -- 240,891,527(+) AGGAG(G/T)GTGCG intron-variant
rs10171067 -- 240,891,552(+) TGGGC(A/G)CTGGC reference, synonymous-codon
rs10173475 -- 240,895,289(+) AACAC(A/G)CTGTT intron-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)

Relevant External Links for C2orf54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2orf54

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

Disorders for C2orf54 Gene

Relevant External Links for C2orf54

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64
  3. 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) 4 64
  4. 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) 3 64

Products for C2orf54 Gene

Sources for C2orf54 Gene

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