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Aliases for CEP112 Gene

Aliases for CEP112 Gene

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

External Ids for CEP112 Gene

Previous Symbols for CEP112 Gene

  • CCDC46

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 112kDa) is a Protein Coding gene. An important paralog of this gene is ENSG00000266076.

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

Genomic Location for CEP112 Gene

Start:
65,635,538 bp from pter
End:
66,192,094 bp from pter
Size:
556,557 bases
Orientation:
Minus strand

Genomic View for CEP112 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CEP112 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP112 Gene

No data available for Regulatory Elements 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

No data available for DME Specific Peptides for CEP112 Gene

Domains for CEP112 Gene

Protein Domains for CEP112 Gene

InterPro:
ProtoNet:
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

miRNA for CEP112 Gene

miRTarBase miRNAs that target CEP112

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targeting 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}.

Gene Ontology (GO) - Cellular Components for CEP112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0016020 membrane --
genes like me logo Genes that share ontologies with CEP112: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport --
genes like me logo Genes that share ontologies with CEP112: view

No data available for Pathways by source for CEP112 Gene

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

Integrated Proteomics: protein expression 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 expressions with CEP112: view

Orthologs for CEP112 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP112 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP112 36
  • 99.58 (n)
  • 99.79 (a)
CEP112 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CEP112 36
  • 83.72 (n)
  • 85.32 (a)
CEP112 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 89 (a)
OneToMany
-- 37
  • 87 (a)
OneToMany
CEP112 36
  • 90.58 (n)
  • 90.46 (a)
mouse
(Mus musculus)
Mammalia Cep112 36
  • 85.92 (n)
  • 86.79 (a)
Cep112 16
Cep112 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CEP112 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 76 (a)
OneToMany
-- 37
  • 56 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cep112 36
  • 85.5 (n)
  • 85.85 (a)
chicken
(Gallus gallus)
Aves CEP112 36
  • 73.5 (n)
  • 69.51 (a)
CEP112 37
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP112 37
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14701 36
zebrafish
(Danio rerio)
Actinopterygii cep112 37
  • 60 (a)
OneToMany
CEP112 (2 of 3) 37
  • 59 (a)
OneToMany
CEP112 (3 of 3) 37
  • 60 (a)
OneToMany
zgc:165627 36
  • 61.22 (n)
  • 55.54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 19 (a)
ManyToMany
-- 37
  • 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

Paralogs for CEP112 Gene

Selected SIMAP similar genes for CEP112 Gene using alignment to 8 proteins:

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

Variants for CEP112 Gene

Sequence variations from dbSNP and Humsavar for CEP112 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1391 -- 65,985,954(+) AATCA(C/T)GATAA intron-variant
rs16723 -- 66,028,874(-) TGCCA(-/AA)GTCTT intron-variant
rs55508 -- 66,124,941(-) TGAGA(A/G)GTTGA intron-variant
rs151134 -- 66,137,585(-) tgtat(A/G)tagtg intron-variant
rs151135 -- 66,115,356(-) gatga(A/T)ctgtt 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

Relevant External Links for CEP112 Gene

HapMap Linkage Disequilibrium report
CEP112

Disorders for CEP112 Gene

No disorders were found for CEP112 Gene.

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. (PMID: 18604267) ParAc G. … Ridker P.M. (PLoS Genet. 2008) 3
  5. Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene. (PMID: 19851299) Johansson A. … Gyllensten U. (Obesity (Silver Spring) 2010) 3

Products for CEP112 Gene

Sources for CEP112 Gene

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