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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.

No data available for Entrez Gene 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

Regulatory Elements for CCDC112 Gene

Enhancers for CCDC112 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
GH05F115551 1.1 Ensembl ENCODE 11.7 -254.6 -254643 0.9 KLF1 TAL1 JUN CEBPB EP300 JUND GLIS1 HMBOX1 RCOR1 CCDC112 LOC101927100 TICAM2 TMED7-TICAM2 TMED7 ATG12 AP3S1 FEM1C GC05P115575
GH05F115549 0.4 ENCODE 11.7 -252.5 -252508 0.2 ELF3 SRF CTCF PKNOX1 TRIM22 RAD21 ZNF664 IKZF1 TCF7 ZNF143 CCDC112 TICAM2 LOC101927100 TMED7-TICAM2 TMED7 AP3S1 ATG12 FEM1C GC05P115575
GH05F115574 0.8 Ensembl ENCODE 11.6 -278.0 -277970 0.4 CTCF ZNF362 ZNF654 MTA2 JUNB MAFG ZNF384 REST ZNF2 RAD21 LOC101927100 FEM1C TICAM2 CCDC112 TMED7-TICAM2 TMED7 GC05P115575
GH05F115575 0.2 ENCODE 11.6 -279.2 -279179 1.6 JUN MAFG SREBF1 JUND ZNF316 EED IKZF1 MAFK CREM TICAM2 LOC101927100 FEM1C CCDC112 TMED7-TICAM2 TMED7 GC05P115575 GC05P115579
GH05F115579 0.2 ENCODE 11.6 -282.6 -282588 0.2 FEM1C TICAM2 LOC101927100 CCDC112 TMED7-TICAM2 TMED7 GC05P115578
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CCDC112 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC112 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001287915 531 2200 TBP CBX3 CREB3L1 KLF17 SIN3A FEZF1 DMAP1 ZNF48 YY1 GLIS2

Genomic Location for CCDC112 Gene

Chromosome:
5
Start:
115,267,188 bp from pter
End:
115,296,831 bp from pter
Size:
29,644 bases
Orientation:
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:
    Q8NEF3-CC112_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 112
    Protein Accession:
    Q8NEF3
    Secondary Accessions:
    • Q6A334

    Protein attributes for CCDC112 Gene

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

    Alternative splice isoforms for CCDC112 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC112 Gene

Post-translational modifications for CCDC112 Gene

  • Glycosylation at Thr 409
  • 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

Protein Domains for CCDC112 Gene

ProtoNet:

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 Gene Families and 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

miRNA for CCDC112 Gene

miRTarBase miRNAs that target CCDC112

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for CCDC112 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC112 Gene COMPARTMENTS Subcellular localization image for CCDC112 gene
Compartment Confidence
nucleus 3
cytosol 2
endoplasmic reticulum 2
plasma membrane 2
extracellular 1
lysosome 1
peroxisome 1
vacuole 1

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

None

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

Transcripts for CCDC112 Gene

Unigene Clusters for CCDC112 Gene

Coiled-coil domain containing 112:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: -
SP4:
SP5:

Relevant External Links for CCDC112 Gene

GeneLoc Exon Structure for
CCDC112
ECgene alternative splicing isoforms for
CCDC112

Expression for CCDC112 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

CCDC112

SOURCE GeneReport for Unigene cluster for CCDC112 Gene:

Hs.436121
genes like me logo Genes that share expression patterns with CCDC112: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CCDC112 34 35
  • 99.56 (n)
cow
(Bos Taurus)
Mammalia CCDC112 34 35
  • 90.12 (n)
dog
(Canis familiaris)
Mammalia CCDC112 34 35
  • 85.41 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc112 34
  • 84.59 (n)
mouse
(Mus musculus)
Mammalia Ccdc112 34 16 35
  • 84.11 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC112 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC112 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC112 34 35
  • 66.74 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC112 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc112 34
  • 64.72 (n)
Str.20306 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToOne
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

ENSEMBL:
Gene Tree for CCDC112 (if available)
TreeFam:
Gene Tree for CCDC112 (if available)

Paralogs for CCDC112 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs10055125 -- 115,282,009(+) ctgaa(G/T)atata intron-variant
rs10074931 -- 115,279,178(+) TAGAC(A/T)AGGAA intron-variant
rs10079729 -- 115,268,763(+) acaca(C/T)ttaca intron-variant
rs111296037 -- 115,290,327(+) GATCT(A/G)TATGT intron-variant
rs111326881 -- 115,297,535(+) TGCCA(-/G)GGCTG intron-variant, upstream-variant-2KB

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)

Relevant External Links for CCDC112 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC112

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

Disorders for CCDC112 Gene

Relevant External Links for CCDC112

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. (PMID: 19490893) Luo J. … Elledge S.J. (Cell 2009) 3 64

Products for CCDC112 Gene

Sources for CCDC112 Gene

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