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Aliases for CCDC112 Gene

Aliases for CCDC112 Gene

  • Coiled-Coil Domain Containing 112 2 3 5
  • Mutated In Bladder Cancer Protein 1 3 4
  • MBC1 3 4
  • Coiled-Coil Domain-Containing Protein 112 3
  • Mutated In Bladder Cancer 1 3

External Ids for CCDC112 Gene

Previous GeneCards Identifiers for CCDC112 Gene

  • GC05M114630
  • GC05M114602
  • GC05M109785

Summaries for CCDC112 Gene

GeneCards Summary for CCDC112 Gene

CCDC112 (Coiled-Coil Domain Containing 112) is a Protein Coding gene.

Additional gene information for CCDC112 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 CCDC112 Gene

Genomics for CCDC112 Gene

GeneHancer (GH) Regulatory Elements for CCDC112 Gene

Promoters and enhancers for CCDC112 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
GH05I115295 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.4 414 1.6 ATF1 SIN3A FEZF1 DMAP1 ZNF48 YY1 POLR2B GLIS2 ATF7 RUNX3 CCDC112 LOC105379129 PGGT1B HMGN1P15
GH05I115261 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 4.9 +34.2 34209 2.2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF766 PGGT1B ENSG00000271797 ATG12 CCDC112
GH05I115549 Enhancer 0.7 ENCODE 11.7 -252.5 -252508 0.2 ELF3 CTCF PKNOX1 SIN3A RAD21 ZNF664 ZNF143 IKZF2 RUNX3 SRF CCDC112 LOC101927100 TICAM2 TMED7-TICAM2 TMED7 AP3S1 ATG12 FEM1C GC05P115575
GH05I115551 Enhancer 0.6 ENCODE 11.7 -254.6 -254643 0.9 KLF1 JUN CEBPB CBFA2T3 EP300 FOSL1 CTBP1 JUND GLIS1 HMBOX1 CCDC112 LOC101927100 TICAM2 TMED7-TICAM2 TMED7 AP3S1 ATG12 FEM1C GC05P115575
GH05I115574 Enhancer 0.6 ENCODE 11.6 -277.9 -277938 0.1 CTCF ZNF654 ZNF362 NR2F1 ZNF384 REST ZNF2 RAD21 IKZF1 SMC3 GC05P115575 LOC101927100 FEM1C TICAM2 CCDC112 TMED7-TICAM2 TMED7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC112 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC112 gene promoter:

Genomic Locations for CCDC112 Gene

Genomic Locations for CCDC112 Gene
29,644 bases
Minus strand

Genomic View for CCDC112 Gene

Genes around CCDC112 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC112 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC112 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC112 Gene

Proteins for CCDC112 Gene

  • Protein details for CCDC112 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Coiled-coil domain-containing protein 112
    Protein Accession:
    Secondary Accessions:
    • Q6A334

    Protein attributes for CCDC112 Gene

    446 amino acids
    Molecular mass:
    53565 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC112 Gene


neXtProt entry for CCDC112 Gene

Post-translational modifications for CCDC112 Gene

  • Glycosylation at Thr409
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC112 Gene

No data available for DME Specific Peptides for CCDC112 Gene

Domains & Families for CCDC112 Gene

Gene Families for CCDC112 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CCDC112 Gene


Suggested Antigen Peptide Sequences for CCDC112 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC112: view

No data available for UniProtKB/Swiss-Prot for CCDC112 Gene

Function for CCDC112 Gene

Gene Ontology (GO) - Molecular Function for CCDC112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC112: view
genes like me logo Genes that share phenotypes with CCDC112: view

Animal Model Products

CRISPR Products

miRNA for CCDC112 Gene

miRTarBase miRNAs that target CCDC112

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC112 Gene

Localization for CCDC112 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 CCDC112 gene
Compartment Confidence
nucleus 3
plasma membrane 2
endoplasmic reticulum 2
cytosol 2
extracellular 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC112 Gene

Pathways & Interactions for CCDC112 Gene

SuperPathways for CCDC112 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC112 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCDC112 Gene

Drugs & Compounds for CCDC112 Gene

No Compound Related Data Available

Transcripts for CCDC112 Gene

Unigene Clusters for CCDC112 Gene

Coiled-coil domain containing 112:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC112 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: -
SP2: - - - -
SP3: -

Relevant External Links for CCDC112 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CCDC112 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC112 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC112 Gene

This gene is overexpressed in Plasma (50.8) and Bone marrow mesenchymal stem cell (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC112 Gene

Protein tissue co-expression partners for CCDC112 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC112 Gene:


SOURCE GeneReport for Unigene cluster for CCDC112 Gene:

genes like me logo Genes that share expression patterns with CCDC112: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC112 Gene

Orthologs for CCDC112 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC112 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CCDC112 33 34
  • 99.56 (n)
(Bos Taurus)
Mammalia CCDC112 33 34
  • 90.12 (n)
(Canis familiaris)
Mammalia CCDC112 33 34
  • 85.41 (n)
(Rattus norvegicus)
Mammalia Ccdc112 33
  • 84.59 (n)
(Mus musculus)
Mammalia Ccdc112 33 16 34
  • 84.11 (n)
(Monodelphis domestica)
Mammalia CCDC112 34
  • 63 (a)
(Ornithorhynchus anatinus)
Mammalia CCDC112 34
  • 52 (a)
(Gallus gallus)
Aves CCDC112 33 34
  • 66.74 (n)
(Anolis carolinensis)
Reptilia CCDC112 34
  • 59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc112 33
  • 64.72 (n)
Str.20306 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
Species where no ortholog for CCDC112 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)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CCDC112 Gene

Gene Tree for CCDC112 (if available)
Gene Tree for CCDC112 (if available)

Paralogs for CCDC112 Gene Pseudogenes for CCDC112 Gene

genes like me logo Genes that share paralogs with CCDC112: view

No data available for Paralogs for CCDC112 Gene

Variants for CCDC112 Gene

Sequence variations from dbSNP and Humsavar for CCDC112 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000096384 -- 115,293,146(-) G/A intron_variant
rs1000297120 -- 115,282,767(-) T/C intron_variant
rs1000351090 -- 115,294,287(-) T/C intron_variant
rs1000376464 -- 115,294,456(-) A/T intron_variant
rs1000528379 -- 115,277,711(-) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC112 Gene

Variant ID Type Subtype PubMed ID
nsv830454 CNV gain+loss 17160897
nsv968978 CNV duplication 23825009

Variation tolerance for CCDC112 Gene

Residual Variation Intolerance Score: 33.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.87; 58.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC112 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC112 Gene

Disorders for CCDC112 Gene

Additional Disease Information for CCDC112

No disorders were found for CCDC112 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC112 Gene

Publications for CCDC112 Gene

  1. 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
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for CCDC112 Gene

Sources for CCDC112 Gene

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