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 addit... See more...

Aliases for CEP112 Gene

Aliases for CEP112 Gene

  • Centrosomal Protein 112 2 3 5
  • Coiled-Coil Domain-Containing Protein 46 3 4
  • Centrosomal Protein Of 112 KDa 3 4
  • Centrosomal Protein 112kDa 2 3
  • CCDC46 3 4
  • Coiled-Coil Domain Containing 46 2
  • MGC33887 2
  • MACOCO 3
  • CEP112 5
  • 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.

Additional gene information for CEP112 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP112 Gene

Genomics for CEP112 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CEP112 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J066190 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 610.6 +0.6 573 2.7 PRDM10 RFX1 ZNF692 TARDBP LARP7 ZIC2 RBFOX2 PATZ1 IRF2 ZNF600 CEP112 lnc-CEP112-1 APOH RF00017-2509 ENSG00000266076
GH17J065826 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 600 +365.4 365376 1.1 CREB1 MNT lnc-AXIN2-3 CEP112 piR-43097-026 ENSG00000266076
GH17J066502 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.8 -311.3 -311268 2.8 ZNF221 CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 ZNF692 RCOR2 ZNF7 CEP112 HELZ APOH PRKCA piR-45035-093 FJ601684-189 CACNG5
GH17J065941 Enhancer 0.5 FANTOM5 31.6 +250.5 250546 0.1 CEBPG CTCF RFX1 BMI1 ZNF444 HLF CEP112 piR-54592-130 LOC107984972 ENSG00000266076
GH17J066578 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -387.5 -387468 5.2 CREB1 PRDM10 PRDM1 ZIC2 ZNF776 NR2C1 SP1 CEBPA ZNF561 ZBTB44 HELZ CEP112 piR-39858-279 FJ601684-189 CACNG5 PRKCA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP112 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP112

Genomic Locations for CEP112 Gene

Genomic Locations for CEP112 Gene
chr17:65,635,537-66,192,133
(GRCh38/hg38)
Size:
556,597 bases
Orientation:
Minus strand
chr17:63,631,656-64,188,212
(GRCh37/hg19)
Size:
556,557 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

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 & Families for CEP112 Gene

Gene Families for CEP112 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP112 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP112 Gene

GenScript: Design optimal peptide antigens:
  • CCDC46 protein (A2RRR7_HUMAN)
  • Coiled-coil domain-containing protein 46 (CE112_HUMAN)
genes like me logo Genes that share domains with CEP112: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP112 Gene

Function for CEP112 Gene

Phenotypes From GWAS Catalog 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP112

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 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
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 CEP112 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
plasma membrane 2
cytosol 2
golgi apparatus 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

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:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with CEP112: view

Pathways & Interactions for CEP112 Gene

PathCards logo

SuperPathways for CEP112 Gene

No Data Available

Interacting Proteins for CEP112 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000376522 Q8N8E3-CE112_HUMAN for CEP112 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CEP112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097120 receptor localization to synapse IEA --
genes like me logo Genes that share ontologies with CEP112: view

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

mRNA/cDNA for CEP112 Gene

7 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP112

Clone Products

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

No ASD Table

Relevant External Links for CEP112 Gene

GeneLoc Exon Structure for
CEP112

Expression for CEP112 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CEP112 Gene



Protein tissue co-expression partners for CEP112 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP112

SOURCE GeneReport for Unigene cluster for CEP112 Gene:

Hs.408676

Evidence on tissue expression from TISSUES for CEP112 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with CEP112: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia CEP112 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CEP112 30
  • 90.58 (n)
-- 31
  • 89 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Cep112 30 17 31
  • 85.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cep112 30
  • 85.5 (n)
Cow
(Bos Taurus)
Mammalia CEP112 30 31
  • 83.72 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CEP112 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CEP112 30 31
  • 73.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CEP112 31
  • 67 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14701 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:165627 30
  • 61.22 (n)
cep112 31
  • 60 (a)
OneToMany
CEP112 (3 of 3) 31
  • 60 (a)
OneToMany
CEP112 (2 of 3) 31
  • 59 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
ManyToMany
-- 31
  • 19 (a)
ManyToMany
Species where no ortholog for CEP112 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CEP112: view image

Paralogs for CEP112 Gene

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

  • CE112_HUMAN
  • F5GYE8_HUMAN
  • F5H850_HUMAN
  • J3KSN4_HUMAN
  • J3QL98_HUMAN
  • J3QQV3_HUMAN
  • J3QRD9_HUMAN
  • J3QSA5_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP112 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
781327 Benign: not provided 65,637,177(-) C/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
rs17704679 - p.Lys551Glu

Additional dbSNP identifiers (rs#s) for CEP112 Gene

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

Variant ID Type Subtype PubMed ID
dgv1495n106 CNV duplication 24896259
dgv1496n106 CNV deletion 24896259
dgv5747n54 CNV loss 21841781
dgv5748n54 CNV loss 21841781
dgv5749n54 CNV loss 21841781
dgv963e212 CNV loss 25503493
esv1969767 CNV deletion 18987734
esv24211 CNV gain 19812545
esv2438395 CNV deletion 19546169
esv2659951 CNV deletion 23128226
esv2674176 CNV deletion 23128226
esv2678761 CNV deletion 23128226
esv2761971 CNV loss 21179565
esv33092 CNV loss 17666407
esv3331739 CNV insertion 20981092
esv3402479 CNV insertion 20981092
esv3582874 CNV loss 25503493
esv3641042 CNV loss 21293372
esv3641043 CNV loss 21293372
esv3641044 CNV loss 21293372
esv3641045 CNV loss 21293372
esv3641046 CNV loss 21293372
esv3641047 CNV loss 21293372
esv3641048 CNV loss 21293372
esv3641051 CNV loss 21293372
esv3641052 CNV loss 21293372
esv3641053 CNV loss 21293372
esv3641054 CNV loss 21293372
nsv1055467 CNV loss 25217958
nsv1070839 CNV deletion 25765185
nsv1120054 OTHER inversion 24896259
nsv1131334 CNV deletion 24896259
nsv1131335 CNV deletion 24896259
nsv1138566 CNV deletion 24896259
nsv1146398 CNV duplication 26484159
nsv1147428 OTHER inversion 26484159
nsv2125 CNV insertion 18451855
nsv457868 CNV loss 19166990
nsv457869 CNV loss 19166990
nsv457871 CNV loss 19166990
nsv457878 CNV loss 19166990
nsv457880 CNV loss 19166990
nsv474287 CNV novel sequence insertion 20440878
nsv476780 CNV novel sequence insertion 20440878
nsv478572 CNV novel sequence insertion 20440878
nsv478974 CNV novel sequence insertion 20440878
nsv507854 OTHER sequence alteration 20534489
nsv510440 OTHER sequence alteration 20534489
nsv523470 CNV loss 19592680
nsv575874 CNV gain 21841781
nsv575875 CNV loss 21841781
nsv575876 CNV loss 21841781
nsv575878 CNV loss 21841781
nsv575879 CNV loss 21841781
nsv575882 CNV loss 21841781
nsv575883 CNV loss 21841781
nsv575884 CNV loss 21841781
nsv575892 CNV loss 21841781
nsv828088 CNV loss 20364138
nsv833519 CNV gain+loss 17160897
nsv960523 CNV duplication 23825009

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)

Additional Variant Information for CEP112 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP112

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

Disorders for CEP112 Gene

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 JS (The EMBO journal 2011) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. A SARS-CoV-2 protein interaction map reveals targets for drug repurposing. (PMID: 32353859) Gordon DE … Krogan NJ (Nature 2020) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for CEP112 Gene

Sources for CEP112 Gene