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Aliases for C12orf54 Gene

Aliases for C12orf54 Gene

  • Chromosome 12 Open Reading Frame 54 2 3 5
  • Uncharacterized Protein C12orf54 3
  • HSD-29 3
  • HSD-30 3

External Ids for C12orf54 Gene

Previous GeneCards Identifiers for C12orf54 Gene

  • GC12P047164
  • GC12P048877
  • GC12P045910
  • GC12P048482

Summaries for C12orf54 Gene

GeneCards Summary for C12orf54 Gene

C12orf54 (Chromosome 12 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 C12orf54 Gene

Genomics for C12orf54 Gene

Regulatory Elements for C12orf54 Gene

Enhancers for C12orf54 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
GH12F048488 0.9 ENCODE 26.5 +33.6 33649 1.7 HDGF TBP SIN3A BMI1 RAD21 ZNF48 YY1 RARA ZNF335 CBX5 C12orf54 RPL37P19 RPS10P20 ENSG00000258121
GH12F048307 0.6 FANTOM5 31.8 -148.1 -148080 0.1 TFDP1 IRF2 PKNOX1 PBX2 H1FNT C12orf54 PFKM SENP1 LOC105369753 ENSG00000275228
GH12F048714 1.2 ENCODE 10.8 +260.9 260876 3.0 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 KANSL2 CCNT1 DDX23 SENP1 LOC390314 CACNB3 CCDC184 PRPF40B OR11M1P LALBA
GH12F049347 1.2 ENCODE 10.7 +892.6 892572 1.7 HDGF PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CCNT1 KANSL2 DDX23 LOC390314 RPL35AP28 LALBA OR11M1P OR5BS1P LIMA1 ENSG00000257253
GH12F048409 0.8 ENCODE 12.2 -45.6 -45554 0.8 HDAC1 KLF1 LEF1 PKNOX1 ATF1 ETV1 ZNF121 FOXK2 NCOR1 TRIM24 C12orf54 ANP32D OR8S21P OR5BJ1P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C12orf54 on UCSC Golden Path with GeneCards custom track

Genomic Location for C12orf54 Gene

48,455,581 bp from pter
48,496,514 bp from pter
40,934 bases
Plus strand

Genomic View for C12orf54 Gene

Genes around C12orf54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf54 Gene

Proteins for C12orf54 Gene

  • Protein details for C12orf54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C12orf54
    Protein Accession:
    Secondary Accessions:
    • Q6X4S9
    • Q8N5S2

    Protein attributes for C12orf54 Gene

    127 amino acids
    Molecular mass:
    14485 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C12orf54 Gene


neXtProt entry for C12orf54 Gene

Post-translational modifications for C12orf54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf54 Gene

No data available for DME Specific Peptides for C12orf54 Gene

Domains & Families for C12orf54 Gene

Protein Domains for C12orf54 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C12orf54: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf54 Gene

Function for C12orf54 Gene

genes like me logo Genes that share phenotypes with C12orf54: 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 C12orf54 Gene

Localization for C12orf54 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 C12orf54 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf54 Gene

Pathways & Interactions for C12orf54 Gene

SuperPathways for C12orf54 Gene

No Data Available

Interacting Proteins for C12orf54 Gene

Gene Ontology (GO) - Biological Process for C12orf54 Gene


No data available for Pathways by source and SIGNOR curated interactions for C12orf54 Gene

Transcripts for C12orf54 Gene

Unigene Clusters for C12orf54 Gene

Chromosome 12 open reading frame 54:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf54 Gene

No ASD Table

Relevant External Links for C12orf54 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C12orf54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf54 Gene

mRNA differential expression in normal tissues according to GTEx for C12orf54 Gene

This gene is overexpressed in Testis (x36.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf54 Gene

NURSA nuclear receptor signaling pathways regulating expression of C12orf54 Gene:


SOURCE GeneReport for Unigene cluster for C12orf54 Gene:

genes like me logo Genes that share expression patterns with C12orf54: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C12orf54 Gene

Orthologs for C12orf54 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C12orf54 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia C27H12orf54 34
  • 80.19 (n)
C12orf54 35
  • 67 (a)
(Bos Taurus)
Mammalia C5H12orf54 34 35
  • 77.42 (n)
Species where no ortholog for C12orf54 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 C12orf54 Gene

Gene Tree for C12orf54 (if available)
Gene Tree for C12orf54 (if available)

Paralogs for C12orf54 Gene

No data available for Paralogs for C12orf54 Gene

Variants for C12orf54 Gene

Sequence variations from dbSNP and Humsavar for C12orf54 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10459230 -- 48,457,213(+) CCAGG(A/C)CCGAA intron-variant
rs10535607 -- 48,493,646(+) AAAAA(-/A)GGGAT intron-variant
rs10585262 -- 48,468,590(+) TAACT(-/ACA)ACAAC intron-variant
rs10715068 -- 48,433,456(+) TTTTT(-/G)GGGGG intron-variant
rs10747547 -- 48,443,817(+) CTACA(C/G)CATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C12orf54 Gene

Variant ID Type Subtype PubMed ID
nsv510295 OTHER sequence alteration 20534489
nsv975484 CNV duplication 23825009

Variation tolerance for C12orf54 Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.01; 74.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C12orf54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf54 Gene

Disorders for C12orf54 Gene

Relevant External Links for C12orf54

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for C12orf54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf54 Gene

Publications for C12orf54 Gene

  1. 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) 3 4 64
  2. 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 3 64

Products for C12orf54 Gene

Sources for C12orf54 Gene

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