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Aliases for C12orf56 Gene

Aliases for C12orf56 Gene

  • Chromosome 12 Open Reading Frame 56 2 3 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.

Additional gene information for C12orf56 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 C12orf56 Gene

Genomics for C12orf56 Gene

Regulatory Elements for C12orf56 Gene

Enhancers for C12orf56 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
GH12H064318 0.9 Ensembl ENCODE 21.7 +72.5 72481 0 CTCF TBL1XR1 HLF JUNB EBF1 RAD21 RELA IKZF1 SMC3 RUNX3 C12orf56 ATP6V1E1P3 ENSG00000256192
GH12H064218 1.4 Ensembl ENCODE 6.2 +170.6 170595 4 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143 LEMD3 LOC100420899 TBK1 C12orf56 RPS11P6 RNU6-1009P
GH12H064403 1.2 ENCODE 5.5 -13.6 -13593 3 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 TBK1 LEMD3 SRGAP1 ENSG00000250280 PABPC1P4 C12orf56 XPOT LOC100420899
GH12H064252 0.8 Ensembl ENCODE 5.7 +138.3 138282 1 ZSCAN4 ZNF133 CEBPB CEBPG RPS11P6 RNU6-1009P XPOT ENSG00000255629 C12orf56 ENSG00000256192 C12orf66
GH12H064323 0.2 ENCODE 22.7 +67.0 66967 0 C12orf56 ATP6V1E1P3 ENSG00000256192
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C12orf56 on UCSC Golden Path with GeneCards custom track

Promoters for C12orf56 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000053166 492 601 CTCF POLR2A MGA

Genomic Location for C12orf56 Gene

Chromosome:
12
Start:
64,264,762 bp from pter
End:
64,391,192 bp from pter
Size:
126,431 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:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf56 Gene

Function for C12orf56 Gene

Phenotypes From GWAS Catalog for C12orf56 Gene

Phenotypes for C12orf56 Gene

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

Animal Model Products

CRISPR Products

miRNA for C12orf56 Gene

miRTarBase miRNAs that target C12orf56

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C12orf56
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
cytosol 2
peroxisome 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

SuperPathways for C12orf56 Gene

No Data Available

Interacting Proteins for C12orf56 Gene

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

Unigene Clusters for C12orf56 Gene

Chromosome 12 open reading frame 56:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C12orf56
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for C12orf56 Gene

GeneLoc Exon Structure for
C12orf56
ECgene alternative splicing isoforms for
C12orf56

Expression for C12orf56 Gene

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

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, PaxDb, and MOPED for C12orf56 Gene



Protein tissue co-expression partners for C12orf56 Gene

NURSA nuclear receptor signaling pathways regulating expression of C12orf56 Gene:

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33
  • 99.21 (n)
C12orf56 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C5H12orf56 33
  • 87.58 (n)
C12orf56 34
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C10H12orf56 33
  • 86.23 (n)
C12orf56 34
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia D930020B18Rik 33 16 34
  • 79.67 (n)
rat
(Rattus norvegicus)
Mammalia RGD1561648 33
  • 79.01 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-258f14.2 33
  • 49.43 (n)
C4H12orf56 34
  • 26 (a)
OneToOne
Species where no ortholog for C12orf56 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)
  • 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 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)

Evolution for C12orf56 Gene

ENSEMBL:
Gene Tree for C12orf56 (if available)
TreeFam:
Gene Tree for C12orf56 (if available)

Paralogs for C12orf56 Gene

No data available for Paralogs for C12orf56 Gene

Variants for C12orf56 Gene

Sequence variations from dbSNP and Humsavar for C12orf56 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000012059 -- 64,378,779(+) GGCAT(A/G)GTGGC intron-variant
rs1000016324 -- 64,391,957(+) AGCAA(C/T)TTCAA upstream-variant-2KB
rs1000019138 -- 64,279,603(+) TAGAA(G/T)CATTT intron-variant
rs1000029027 -- 64,381,981(+) ACTCA(G/T)CAGGG intron-variant
rs1000071283 -- 64,279,967(+) CAAAG(C/G)AAAGA intron-variant

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)

Relevant External Links for C12orf56 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C12orf56

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf56 Gene

Disorders for C12orf56 Gene

Relevant External Links for C12orf56

Human Genome Epidemiology (HuGE) Navigator
C12orf56
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C12orf56

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 60
  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 60
  3. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. (PMID: 19490893) Luo J … Elledge SJ (Cell 2009) 3 60
  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 60
  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 60

Products for C12orf56 Gene

Sources for C12orf56 Gene

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