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Aliases for C2orf54 Gene

Aliases for C2orf54 Gene

  • Chromosome 2 Open Reading Frame 54 2 3

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

Genomic Location for C2orf54 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for C2orf54 Gene at MOPED

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 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

MGI mutant phenotypes for C2orf54:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with C2orf54: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting 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
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
plasma membrane 1

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

Pathways 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 I2D

Symbol External ID(s) Details
RAD23B

Gene Ontology (GO) - Biological Process for C2orf54 Gene

None

No data available for Pathways by source 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:

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 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 (23.1), Vagina (6.8), Skin - Not Sun Exposed (Suprapubic) (5.1), Skin - Sun Exposed (Lower leg) (4.9), and Minor Salivary Gland (4.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for C2orf54 Gene

SOURCE GeneReport for Unigene cluster for C2orf54 Gene Hs.193745

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

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 35
  • 99.4 (n)
  • 99.55 (a)
C2orf54 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C2orf54 36
  • 75 (a)
OneToOne
C3H2orf54 35
  • 82.85 (n)
  • 76.85 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 80 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
C25H2orf54 35
  • 85.02 (n)
  • 80.96 (a)
mouse
(Mus musculus)
Mammalia 2310007B03Rik 35
  • 79.79 (n)
  • 76.73 (a)
2310007B03Rik 16
2310007B03Rik 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C2orf54 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf54 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1563692 35
  • 78.82 (n)
  • 74.72 (a)
chicken
(Gallus gallus)
Aves C2ORF54 35
  • 62.56 (n)
  • 50.95 (a)
C2orf54 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2orf54 36
  • 48 (a)
OneToOne
Species with no ortholog for C2orf54:
  • 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 MAF
rs1138103 -- 240,886,988(-) ATGTT(A/T)GGAAG utr-variant-3-prime
rs3935105 -- 240,892,808(+) CACCC(A/G)GGACC intron-variant, upstream-variant-2KB
rs3936203 -- 240,895,237(+) CAGGC(A/G)TTTGG intron-variant
rs3936204 -- 240,895,413(+) acact(G/T)gcaca intron-variant
rs3936205 -- 240,895,458(+) GATAC(A/G)CGTGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv876116 CNV Loss 21882294
nsv470531 CNV Loss 18288195
dgv4482n71 CNV Loss 21882294
nsv460167 CNV Gain 19166990
dgv4485n71 CNV Loss 21882294
dgv4486n71 CNV Loss 21882294
dgv4487n71 CNV Loss 21882294
nsv876204 CNV Loss 21882294
dgv4488n71 CNV Loss 21882294
nsv876208 CNV Loss 21882294
nsv876210 CNV Loss 21882294
nsv876211 CNV Loss 21882294
nsv460168 CNV Loss 19166990
dgv4489n71 CNV Loss 21882294
esv2721955 CNV Deletion 23290073
nsv519993 CNV Loss 19592680

Relevant External Links for C2orf54 Gene

HapMap Linkage Disequilibrium report
C2orf54

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

Disorders for C2orf54 Gene

No disorders were found for C2orf54 Gene.

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4
  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

Products for C2orf54 Gene

Sources for C2orf54 Gene

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