Aliases for C12orf56 Gene

Aliases for C12orf56 Gene

  • Chromosome 12 Open Reading Frame 56 2 3 5
  • Uncharacterized Protein C12orf56 3 4
  • C12orf56 5

External Ids for C12orf56 Gene

Previous GeneCards Identifiers for C12orf56 Gene

  • GC12M062948
  • GC12M064661
  • GC12M061713

Summaries for C12orf56 Gene

GeneCards Summary for C12orf56 Gene

C12orf56 (Chromosome 12 Open Reading Frame 56) is a Protein Coding 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 C12orf56 Gene

Genomics for C12orf56 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C12orf56 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C12orf56 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C12orf56

Top Transcription factor binding sites by QIAGEN in the C12orf56 gene promoter:
  • ATF6
  • C/EBPbeta
  • CUTL1
  • E47
  • Hlf
  • MyoD
  • N-Myc
  • Pax-2
  • Pax-2a
  • Pbx1a

Genomic Locations for C12orf56 Gene

Latest Assembly
chr12:64,264,762-64,390,758
(GRCh38/hg38)
Size:
125,997 bases
Orientation:
Minus strand

Previous Assembly
chr12:64,658,542-64,784,538
(GRCh37/hg19 by Entrez Gene)
Size:
125,997 bases
Orientation:
Minus strand

chr12:64,660,217-64,784,972
(GRCh37/hg19 by Ensembl)
Size:
124,756 bases
Orientation:
Minus strand

Genomic View for C12orf56 Gene

Genes around C12orf56 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf56 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf56 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf56 Gene

Proteins for C12orf56 Gene

  • Protein details for C12orf56 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXR9-CL056_HUMAN
    Recommended name:
    Uncharacterized protein C12orf56
    Protein Accession:
    Q8IXR9

    Protein attributes for C12orf56 Gene

    Size:
    622 amino acids
    Molecular mass:
    71046 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C12orf56 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C12orf56 Gene

Post-translational modifications for C12orf56 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf56 Gene

No data available for DME Specific Peptides for C12orf56 Gene

Domains & Families for C12orf56 Gene

Gene Families for C12orf56 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C12orf56 Gene

InterPro:
genes like me logo Genes that share domains with C12orf56: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C12orf56 Gene

Function for C12orf56 Gene

Phenotypes From GWAS Catalog for C12orf56 Gene

genes like me logo Genes that share phenotypes with C12orf56: view

Animal Models for C12orf56 Gene

MGI Knock Outs for C12orf56:

miRNA for C12orf56 Gene

miRTarBase miRNAs that target C12orf56

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf56

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C12orf56 Gene

Localization for C12orf56 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 C12orf56 gene
Compartment Confidence
mitochondrion 2
peroxisome 1
cytosol 1

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 C12orf56 Gene

Pathways & Interactions for C12orf56 Gene

PathCards logo

SuperPathways for C12orf56 Gene

No Data Available

Interacting Proteins for C12orf56 Gene

STRING Interaction Network Preview (showing top 4 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000446101 for C12orf56 Gene via STRING

Gene Ontology (GO) - Biological Process for C12orf56 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C12orf56 Gene

Drugs & Compounds for C12orf56 Gene

No Compound Related Data Available

Transcripts for C12orf56 Gene

mRNA/cDNA for C12orf56 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf56

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf56 Gene

No ASD Table

Relevant External Links for C12orf56 Gene

GeneLoc Exon Structure for
C12orf56

Expression for C12orf56 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C12orf56 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 C12orf56 Gene

This gene is overexpressed in Testis (x14.0), Nerve - Tibial (x6.1), Vagina (x5.8), and Esophagus - Mucosa (x5.8).

Protein differential expression in normal tissues from HIPED for C12orf56 Gene

This gene is overexpressed in Pancreatic juice (63.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf56 Gene



Protein tissue co-expression partners for C12orf56 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C12orf56

SOURCE GeneReport for Unigene cluster for C12orf56 Gene:

Hs.535190
genes like me logo Genes that share expression patterns with C12orf56: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C12orf56 Gene

Orthologs for C12orf56 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf56 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C12H12orf56 29
  • 99.21 (n)
C12orf56 30
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C5H12orf56 29
  • 87.58 (n)
C12orf56 30
  • 63 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C10H12orf56 29
  • 86.23 (n)
C12orf56 30
  • 60 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia D930020B18Rik 29 16 30
  • 79.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1561648 29
  • 79.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-258f14.2 29
  • 49.43 (n)
C4H12orf56 30
  • 26 (a)
OneToOne
Species where no ortholog for C12orf56 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)

Evolution for C12orf56 Gene

ENSEMBL:
Gene Tree for C12orf56 (if available)
TreeFam:
Gene Tree for C12orf56 (if available)
Alliance of Genome Resources:
Additional Orthologs for C12orf56

Paralogs for C12orf56 Gene

No data available for Paralogs for C12orf56 Gene

Variants for C12orf56 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C12orf56 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C12orf56 Gene

Variant ID Type Subtype PubMed ID
esv1457683 CNV deletion 17803354
esv2745987 CNV deletion 23290073
esv3580293 CNV loss 25503493
esv3629770 CNV loss 21293372
esv3629771 CNV loss 21293372
esv3629772 CNV loss 21293372
nsv1113489 CNV deletion 24896259
nsv1128667 CNV duplication 24896259
nsv1148950 CNV duplication 26484159
nsv469456 CNV loss 19166990
nsv517246 CNV loss 19592680
nsv559202 CNV loss 21841781
nsv958682 CNV deletion 24416366

Variation tolerance for C12orf56 Gene

Residual Variation Intolerance Score: 80.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.35; 96.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf56 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf56
Leiden Open Variation Database (LOVD)
C12orf56

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C12orf56 Gene

Disorders for C12orf56 Gene

Additional Disease Information for C12orf56

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for C12orf56 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C12orf56 Gene

Publications for C12orf56 Gene

  1. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. (PMID: 24324551) Deng X … REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology Donor Study-II Component International (PloS one 2013) 3
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3
  3. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. (PMID: 19490893) Luo J … Elledge SJ (Cell 2009) 3
  4. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 4
  5. 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) 4

Products for C12orf56 Gene

Sources for C12orf56 Gene