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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.

Additional gene information for C12orf54 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 C12orf54 Gene

Genomics for C12orf54 Gene

GeneHancer (GH) Regulatory Elements for C12orf54 Gene

Promoters and enhancers for C12orf54 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I048482 Promoter 0.5 EPDnew 550.3 +26.9 26898 0.1 C12orf54 ANP32D RPS10P20 GC12M048339
GH12I048104 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.5 -349.3 -349291 4.1 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SENP1 PFKM DDX23 KMT2D CCNT1 LOC390314 KANSL2 RPL37P19 OR5BK1P HDAC7
GH12I048865 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.5 +410.6 410649 2.2 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 RND1 DDX23 KMT2D KANSL2 LOC390314 CCNT1 LMBR1L SENP1 BCDIN3D PRPF40B
GH12I048488 Enhancer 0.7 ENCODE 26.5 +33.6 33649 1.7 HDGF EBF1 BMI1 BATF IRF4 RELA ATF7 BCLAF1 IKZF2 RUNX3 RPS10P20 C12orf54 RPL37P19 ENSG00000258121 GC12M048339
GH12I048307 Enhancer 0.5 FANTOM5 31.8 -148.1 -148080 0.1 IRF2 PKNOX1 GABPB1 LOC105369753 H1FNT C12orf54 PFKM SENP1 ENSG00000275228
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C12orf54 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf54 gene promoter:

Genomic Locations for C12orf54 Gene

Genomic Locations for C12orf54 Gene
chr12:48,455,581-48,496,514
(GRCh38/hg38)
Size:
40,934 bases
Orientation:
Plus strand
chr12:48,876,286-48,890,297
(GRCh37/hg19)

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:
    Q6X4T0-CL054_HUMAN
    Recommended name:
    Uncharacterized protein C12orf54
    Protein Accession:
    Q6X4T0
    Secondary Accessions:
    • Q6X4S9
    • Q8N5S2

    Protein attributes for C12orf54 Gene

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

    Alternative splice isoforms for C12orf54 Gene

    UniProtKB/Swiss-Prot:

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

Gene Families for C12orf54 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C12orf54 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for C12orf54 Gene

Phenotypes From GWAS Catalog for C12orf54 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA 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

COMPARTMENTS
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 , Subcellular locations from the Human Protein Atlas (HPA) 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

None

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

Drugs & Compounds for C12orf54 Gene

No Compound Related Data Available

Transcripts for C12orf54 Gene

Unigene Clusters for C12orf54 Gene

Chromosome 12 open reading frame 54:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for C12orf54 Gene

GeneLoc Exon Structure for
C12orf54
ECgene alternative splicing isoforms for
C12orf54

Expression for C12orf54 Gene

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

C12orf54

SOURCE GeneReport for Unigene cluster for C12orf54 Gene:

Hs.98202
genes like me logo Genes that share expression patterns with C12orf54: view

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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
dog
(Canis familiaris)
Mammalia C27H12orf54 33
  • 80.19 (n)
C12orf54 34
  • 67 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf54 33 34
  • 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

ENSEMBL:
Gene Tree for C12orf54 (if available)
TreeFam:
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 Variation AA Info Type
rs1000005821 -- 48,439,869(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000069556 -- 48,460,015(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000079048 -- 48,460,274(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000110506 -- 48,445,367(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000153605 -- 48,482,458(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)

Additional Variant Information for C12orf54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf54

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

Disorders for C12orf54 Gene

Additional Disease Information for C12orf54

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 DS … MGC Project Team (Genome research 2004) 3 4 58
  2. 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

Products for C12orf54 Gene

Sources for C12orf54 Gene

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