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Aliases for C12orf60 Gene

Aliases for C12orf60 Gene

  • Chromosome 12 Open Reading Frame 60 2 3 5
  • Uncharacterized Protein C12orf60 3

External Ids for C12orf60 Gene

Previous GeneCards Identifiers for C12orf60 Gene

  • GC12P014848
  • GC12P014956
  • GC12P014725

Summaries for C12orf60 Gene

GeneCards Summary for C12orf60 Gene

C12orf60 (Chromosome 12 Open Reading Frame 60) is a Protein Coding gene. Diseases associated with C12orf60 include Diarrhea 6 and Duodenal Atresia.

Additional gene information for C12orf60 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 C12orf60 Gene

Genomics for C12orf60 Gene

GeneHancer (GH) Regulatory Elements for C12orf60 Gene

Promoters and enhancers for C12orf60 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J014801 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 675.2 +18.0 17975 2.9 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 WBP11 C12orf60 ATF7IP ENSG00000261324 HIST4H4 H2AFJ SMCO3 PIR58925
GH12J014822 Promoter 0.5 EPDnew 674.6 +37.6 37600 0.1 C12orf60 GC12P014829 SMCO3
GH12J014768 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.2 -14.8 -14786 4.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 GC12M014770 HIST4H4 LOC105369669 C12orf60 ENSG00000261324 H2AFJ ERP27
GH12J014772 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 19.5 -10.5 -10458 3.8 PKNOX1 FOXA2 ARID4B SIN3A ZNF48 YY1 GLIS2 FOS RUNX3 ZNF202 H2AFJ GC12P014775 PIR36886 WBP11 C12orf60 ENSG00000261324 HIST4H4 ATF7IP ERP27
GH12J014945 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +170.1 170097 19.1 HDGF PKNOX1 ATF1 FOXA2 SMAD1 YBX1 IRF4 YY1 ZNF766 GATA2 ARHGDIB ERP27 PDE6H WBP11 ART4 H2AFJ HIST4H4 SMCO3 C12orf60 ENSG00000256339
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C12orf60 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C12orf60 gene promoter:

Genomic Locations for C12orf60 Gene

Genomic Locations for C12orf60 Gene
121,370 bases
Plus strand

Genomic View for C12orf60 Gene

Genes around C12orf60 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C12orf60 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C12orf60 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C12orf60 Gene

Proteins for C12orf60 Gene

  • Protein details for C12orf60 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C12orf60
    Protein Accession:
    Secondary Accessions:
    • A8K1M7
    • Q5XKK8
    • Q8IXY2

    Protein attributes for C12orf60 Gene

    245 amino acids
    Molecular mass:
    27626 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C12orf60 Gene

Post-translational modifications for C12orf60 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C12orf60 Gene

No data available for DME Specific Peptides for C12orf60 Gene

Domains & Families for C12orf60 Gene

Gene Families for C12orf60 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C12orf60 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C12orf60: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C12orf60 Gene

Function for C12orf60 Gene

Phenotypes From GWAS Catalog for C12orf60 Gene

Phenotypes for C12orf60 Gene

genes like me logo Genes that share phenotypes with C12orf60: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf60

Clone Products

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 C12orf60 Gene

Localization for C12orf60 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 C12orf60 gene
Compartment Confidence
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C12orf60 Gene

Pathways & Interactions for C12orf60 Gene

SuperPathways for C12orf60 Gene

No Data Available

Interacting Proteins for C12orf60 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000331691 Q5U649-CL060_HUMAN for C12orf60 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C12orf60 Gene


No data available for Pathways by source and SIGNOR curated interactions for C12orf60 Gene

Drugs & Compounds for C12orf60 Gene

No Compound Related Data Available

Transcripts for C12orf60 Gene

Unigene Clusters for C12orf60 Gene

Chromosome 12 open reading frame 60:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C12orf60

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C12orf60 Gene

No ASD Table

Relevant External Links for C12orf60 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C12orf60 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C12orf60 Gene

mRNA differential expression in normal tissues according to GTEx for C12orf60 Gene

This gene is overexpressed in Testis (x8.3).

Protein differential expression in normal tissues from HIPED for C12orf60 Gene

This gene is overexpressed in Pancreas (63.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C12orf60 Gene

Protein tissue co-expression partners for C12orf60 Gene

NURSA nuclear receptor signaling pathways regulating expression of C12orf60 Gene:


SOURCE GeneReport for Unigene cluster for C12orf60 Gene:

genes like me logo Genes that share expression patterns with C12orf60: view

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 C12orf60 Gene

Orthologs for C12orf60 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C12orf60 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C12H12orf60 33
  • 98.49 (n)
C12orf60 34
  • 96 (a)
(Bos Taurus)
Mammalia C5H12orf60 33
  • 80.39 (n)
C12orf60 34
  • 67 (a)
(Canis familiaris)
Mammalia C27H12orf60 33
  • 79.61 (n)
C12orf60 34
  • 65 (a)
(Mus musculus)
Mammalia BC049715 16 34 33
  • 69.27 (n)
(Rattus norvegicus)
Mammalia LOC500354 33
  • 69.14 (n)
(Ornithorhynchus anatinus)
Mammalia C12orf60 34
  • 18 (a)
(Anolis carolinensis)
Reptilia C12orf60 34
  • 27 (a)
Species where no ortholog for C12orf60 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • zebrafish (Danio rerio)

Evolution for C12orf60 Gene

Gene Tree for C12orf60 (if available)
Gene Tree for C12orf60 (if available)

Paralogs for C12orf60 Gene

No data available for Paralogs for C12orf60 Gene

Variants for C12orf60 Gene

Sequence variations from dbSNP and Humsavar for C12orf60 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1057519441 pathogenic, Abnormal biliary tract morphology, Asplenia, Duodenal atresia, Reduced number of intrahepatic bile ducts 14,683,243(+) A/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs587776871 pathogenic, Diarrhea 6 14,622,087(+) C/A genic_upstream_transcript_variant, intron_variant
rs587776905 pathogenic, Meconium ileus 14,672,883(+) T/C genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs587784572 pathogenic, Meconium ileus 14,641,142(+) C/T genic_upstream_transcript_variant, intron_variant
rs587784573 pathogenic, Meconium ileus 14,619,304(+) A/G genic_upstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C12orf60 Gene

Variant ID Type Subtype PubMed ID
esv2745588 CNV deletion 23290073

Variation tolerance for C12orf60 Gene

Residual Variation Intolerance Score: 90% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.36; 88.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C12orf60 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C12orf60 Gene

Disorders for C12orf60 Gene

MalaCards: The human disease database

(3) MalaCards diseases for C12orf60 Gene - From: GeneCards

Disorder Aliases PubMed IDs
diarrhea 6
  • diar6
duodenal atresia
  • duodenal stenosis
meconium ileus
  • intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C12orf60

genes like me logo Genes that share disorders with C12orf60: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C12orf60 Gene

Publications for C12orf60 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. 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
  3. 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
  4. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (PMID: 23449627) Cousminer DL … Early Growth Genetics (EGG) Consortium (Human molecular genetics 2013) 3 58

Products for C12orf60 Gene

Sources for C12orf60 Gene

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