Aliases for C12orf54 Gene

Aliases for C12orf54 Gene

  • Chromosome 12 Open Reading Frame 54 2 3 5
  • Uncharacterized Protein C12orf54 3 4
  • C12orf54 5
  • MGC35033 2
  • 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. Diseases associated with C12orf54 include Fanconi Anemia, Complementation Group A.

Additional gene information for C12orf54 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C12orf54 Gene

Genomics for C12orf54 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH12J048413 Enhancer 0.7 Ensembl ENCODE 611.1 +1.3 1276 1.1 IKZF1 SP1 NR2F2 RAD21 MAX REST CBFA2T3 C12orf54 OR8S21P ANP32D ENSG00000257735 MG828730-015
GH12J048482 Promoter 0.3 EPDnew 600.2 +69.3 69325 0.1 C12orf54 ANP32D RPS10P20 piR-33605-113 OR8S1 MG828730-015
GH12J048488 Enhancer 0.7 ENCODE 26.4 +76.1 76076 1.7 RELA TCF12 IKZF2 ARID3A DPF2 RELB RUNX3 BCLAF1 BCL11A NBN RPS10P20 lnc-ANP32D-2 C12orf54 ENSG00000240399 ENSG00000258121 piR-46662-122 ANP32D OR8S1 MG828730-015
GH12J048307 Enhancer 0.5 FANTOM5 31.8 -105.7 -105653 0.1 PKNOX1 IRF2 TFDP1 GABPB1 LOC105369753 H1-7 C12orf54 PFKM SENP1 piR-45932-026 OR10AD1
GH12J048409 Enhancer 0.9 Ensembl ENCODE 12.6 -3.2 -3154 1.2 LEF1 PKNOX1 HDAC1 SOX6 FOXJ2 MGA MTA3 CTBP1 FOXK2 CTCF piR-58308-080 C12orf54 ANP32D ENSG00000257735 ZNF641 MG828730-015
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf54 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf54

Top Transcription factor binding sites by QIAGEN in the C12orf54 gene promoter:
  • Arnt
  • CUTL1
  • FAC1
  • GATA-2
  • HNF-1
  • HNF-1A
  • IRF-7A
  • Nkx2-5
  • Pax-3
  • ZID

Genomic Locations for C12orf54 Gene

Genomic Locations for C12orf54 Gene
chr12:48,413,154-48,496,524
(GRCh38/hg38)
Size:
83,371 bases
Orientation:
Plus strand
chr12:48,876,286-48,890,297
(GRCh37/hg19)
Size:
14,012 bases
Orientation:
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:
    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
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf54

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

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

Pathways & Interactions for C12orf54 Gene

PathCards logo

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

mRNA/cDNA for C12orf54 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf54

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

No ASD Table

Relevant External Links for C12orf54 Gene

GeneLoc Exon Structure for
C12orf54

Expression for C12orf54 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf54

SOURCE GeneReport for Unigene cluster for C12orf54 Gene:

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

Primer Products

No data available for 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 30
  • 80.19 (n)
C12orf54 31
  • 67 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C5H12orf54 30 31
  • 77.42 (n)
OneToOne
Species where no ortholog for C12orf54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf54 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11458 - p.Pro86Ser

Additional dbSNP identifiers (rs#s) for C12orf54 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for C12orf54 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with C12orf54: view

No data available for 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
  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

Products for C12orf54 Gene

Sources for C12orf54 Gene