Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CEP112 Gene

Aliases for CEP112 Gene

  • Centrosomal Protein 112 2 3
  • Centrosomal Protein 112kDa 2 3 5
  • Coiled-Coil Domain-Containing Protein 46 3 4
  • CCDC46 3 4
  • Coiled-Coil Domain Containing 46 2
  • MACOCO 3
  • Cep112 4

External Ids for CEP112 Gene

Previous HGNC Symbols for CEP112 Gene

  • CCDC46

Previous GeneCards Identifiers for CEP112 Gene

  • GC17M063632

Summaries for CEP112 Gene

Entrez Gene Summary for CEP112 Gene

  • This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for CEP112 Gene

CEP112 (Centrosomal Protein 112) is a Protein Coding gene.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP112 Gene

Genomics for CEP112 Gene

Regulatory Elements for CEP112 Gene

Promoters for CEP112 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEP112 on UCSC Golden Path with GeneCards custom track

Genomic Location for CEP112 Gene

Chromosome:
17
Start:
65,635,538 bp from pter
End:
66,192,131 bp from pter
Size:
556,594 bases
Orientation:
Minus strand

Genomic View for CEP112 Gene

Genes around CEP112 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP112 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP112 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP112 Gene

Proteins for CEP112 Gene

  • Protein details for CEP112 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8E3-CE112_HUMAN
    Recommended name:
    Centrosomal protein of 112 kDa
    Protein Accession:
    Q8N8E3
    Secondary Accessions:
    • Q6PIB5
    • Q8NCR4
    • Q8NFR4

    Protein attributes for CEP112 Gene

    Size:
    955 amino acids
    Molecular mass:
    112749 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH37991.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 563.; Evidence={ECO:0000305}; Sequence=AAM49719.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CEP112 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP112 Gene

Proteomics data for CEP112 Gene at MOPED

Post-translational modifications for CEP112 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CEP112 Gene

Domains & Families for CEP112 Gene

Protein Domains for CEP112 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP112 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP112: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CEP112 Gene

Function for CEP112 Gene

genes like me logo Genes that share phenotypes with CEP112: view

Animal Model Products

CRISPR Products

miRNA for CEP112 Gene

miRTarBase miRNAs that target CEP112

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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 CEP112 Gene

Localization for CEP112 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP112 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes around spindle poles in some cells. {ECO:0000269 PubMed:21399614}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEP112 Gene COMPARTMENTS Subcellular localization image for CEP112 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
golgi apparatus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for CEP112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0060077 inhibitory synapse IEA --
genes like me logo Genes that share ontologies with CEP112: view

Pathways & Interactions for CEP112 Gene

SuperPathways for CEP112 Gene

No Data Available

Interacting Proteins for CEP112 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000376522%0d%0a9606.ENSP00000254108%0d%0a
Selected Interacting proteins: ENSP00000376522 for CEP112 Gene via STRING

Symbol External ID(s) Details
FUS

Gene Ontology (GO) - Biological Process for CEP112 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CEP112 Gene

Drugs & Compounds for CEP112 Gene

No Compound Related Data Available

Transcripts for CEP112 Gene

Unigene Clusters for CEP112 Gene

Centrosomal protein 112kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEP112 Gene

No ASD Table

Relevant External Links for CEP112 Gene

GeneLoc Exon Structure for
CEP112
ECgene alternative splicing isoforms for
CEP112

Expression for CEP112 Gene

mRNA expression in normal human tissues for CEP112 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP112 Gene

This gene is overexpressed in Plasma (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CEP112 Gene



SOURCE GeneReport for Unigene cluster for CEP112 Gene Hs.408676

genes like me logo Genes that share expression patterns with CEP112: view

Protein tissue co-expression partners for CEP112 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CEP112 Gene

Orthologs for CEP112 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP112 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEP112 35
  • 83.72 (n)
  • 85.32 (a)
CEP112 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEP112 35
  • 90.58 (n)
  • 90.46 (a)
-- 36
  • 89 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cep112 35
  • 85.92 (n)
  • 86.79 (a)
Cep112 16
Cep112 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEP112 35
  • 99.58 (n)
  • 99.79 (a)
CEP112 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cep112 35
  • 85.5 (n)
  • 85.85 (a)
oppossum
(Monodelphis domestica)
Mammalia CEP112 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves CEP112 35
  • 73.5 (n)
  • 69.51 (a)
CEP112 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP112 36
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14701 35
zebrafish
(Danio rerio)
Actinopterygii zgc:165627 35
  • 61.22 (n)
  • 55.54 (a)
cep112 36
  • 60 (a)
OneToMany
CEP112 (2 of 3) 36
  • 59 (a)
OneToMany
CEP112 (3 of 3) 36
  • 60 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 19 (a)
ManyToMany
-- 36
  • 43 (a)
ManyToMany
Species with no ortholog for CEP112:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP112 Gene

ENSEMBL:
Gene Tree for CEP112 (if available)
TreeFam:
Gene Tree for CEP112 (if available)

Paralogs for CEP112 Gene

(1) SIMAP similar genes for CEP112 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CEP112: view

No data available for Paralogs for CEP112 Gene

Variants for CEP112 Gene

Sequence variations from dbSNP and Humsavar for CEP112 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs17704679 - 66,027,506(+) CTTTT(C/T)TTCAT nc-transcript-variant, reference, missense
rs151134 -- 66,137,585(-) tgtat(A/G)tagtg intron-variant
rs151135 -- 66,115,356(-) gatga(A/T)ctgtt intron-variant
rs151136 -- 66,108,860(-) ttagc(G/T)tgctt intron-variant
rs192043 -- 66,169,440(-) tgggc(A/G)tggtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CEP112 Gene

Variant ID Type Subtype PubMed ID
nsv2125 CNV Insertion 18451855
nsv833519 CNV Gain+Loss 17160897
esv270058 CNV Insertion 20981092
nsv828088 CNV Loss 20364138
nsv457868 CNV Loss 19166990
nsv457869 CNV Loss 19166990
nsv523470 CNV Loss 19592680
esv24211 CNV Gain 19812545
esv33092 CNV Loss 17666407
nsv507854 CNV Insertion 20534489
esv2716113 CNV Deletion 23290073
esv1969767 CNV Deletion 18987734
esv2438395 CNV Deletion 19546169
esv2674176 CNV Deletion 23128226
esv2678761 CNV Deletion 23128226
nsv457871 CNV Loss 19166990
nsv510440 CNV Loss 20534489
nsv457878 CNV Loss 19166990
nsv457880 CNV Loss 19166990
esv2659951 CNV Deletion 23128226

Variation tolerance for CEP112 Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.55; 94.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEP112 Gene

HapMap Linkage Disequilibrium report
CEP112

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP112 Gene

Disorders for CEP112 Gene

Relevant External Links for CEP112

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEP112

No disorders were found for CEP112 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CEP112 Gene

Publications for CEP112 Gene

  1. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. (PMID: 21399614) Jakobsen L. … Andersen J.S. (EMBO J. 2011) 2 3 4 67
  2. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3
  3. HAUSP regulates c-MYC expression via de-ubiquitination of TRRAP. (PMID: 25925205) Bhattacharya S. … Ghosh M.K. (Cell Oncol (Dordr) 2015) 3
  4. Blood methylomics in response to arsenic exposure in a low-exposed US population. (PMID: 24368509) Liu X. … Hou L. (J Expo Sci Environ Epidemiol 2014) 3
  5. Mutations in microRNA binding sites of CEP genes involved in cancer. (PMID: 25115610) Gopalakrishnan C. … Purohit R. (Cell Biochem. Biophys. 2014) 3

Products for CEP112 Gene

Sources for CEP112 Gene

Back to Top

Content