Aliases for CDC123 Gene

Aliases for CDC123 Gene

  • Cell Division Cycle 123 2 3 5
  • D123 2 3 4
  • Cell Division Cycle Protein 123 Homolog 3 4
  • C10orf7 3 4
  • HT-1080 3 4
  • PZ32 3 4
  • Cell Division Cycle 123 Homolog (S. Cerevisiae) 2
  • Chromosome 10 Open Reading Frame 7 2
  • Cell Division Cycle 123 Homolog 3
  • Protein D123 4
  • CDC123 5

External Ids for CDC123 Gene

Previous HGNC Symbols for CDC123 Gene

  • C10orf7

Previous GeneCards Identifiers for CDC123 Gene

  • GC10P012278
  • GC10P012154
  • GC10P012237

Summaries for CDC123 Gene

GeneCards Summary for CDC123 Gene

CDC123 (Cell Division Cycle 123) is a Protein Coding gene. Diseases associated with CDC123 include Wolfram Syndrome 1 and Wolfram Syndrome.

UniProtKB/Swiss-Prot Summary for CDC123 Gene

Gene Wiki entry for CDC123 Gene

Additional gene information for CDC123 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDC123 Gene

Genomics for CDC123 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDC123 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
GH10J012193 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 136 4.6 BRCA1 CEBPG GATAD2A PRDM10 ZNF629 ZNF512 SIX5 LEF1 IKZF1 KDM1A NUDT5 CDC123 DHTKD1 SEC61A2 CAMK1D MN298114-020
GH10J012194 Enhancer 0.8 ENCODE 0.7 -2.5 -2488 0.2 ZNF221 CEBPG ZNF629 ZNF692 PRDM1 SP1 ZNF600 CEBPA SCRT2 ZBTB44 SEC61A2 DHTKD1 NUDT5 CDC123 piR-43105-037 MN298114-020
GH10J012190 Enhancer 0.6 ENCODE 0.7 -4.4 -4408 1.7 SP1 CEBPA MAFF YY1 MAFK ZSCAN9 SPI1 RAD21 CEBPB HNF4A SEC61A2 DHTKD1 NUDT5 CDC123 piR-43105-037 MN298114-020
GH10J012219 Enhancer 1.1 FANTOM5 Ensembl ENCODE 0.4 +24.8 24836 4.4 IKZF1 JUND HDAC1 NRF1 CEBPB ZNF140 ZNF184 EGR1 CTBP1 NFE2 CAMK1D piR-54764-038 lnc-NUDT5-2 CDC123 NUDT5 MN298114-020
GH10J012201 Enhancer 0.7 Ensembl ENCODE 0.4 +5.5 5536 1.4 CEBPG POLR2A CEBPB EGR1 HDGF EGR2 CBFA2T3 SPI1 RF00017-578 NUDT5 CAMK1D CDC123 lnc-NUDT5-2 MN298114-020
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC123 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDC123

Top Transcription factor binding sites by QIAGEN in the CDC123 gene promoter:
  • Egr-1
  • FOXO3
  • FOXO3a
  • LCR-F1
  • p53
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT1alpha
  • STAT1beta

Genomic Locations for CDC123 Gene

Genomic Locations for CDC123 Gene
chr10:12,195,965-12,250,589
(GRCh38/hg38)
Size:
54,625 bases
Orientation:
Plus strand
chr10:12,237,961-12,292,589
(GRCh37/hg19)
Size:
54,629 bases
Orientation:
Plus strand

Genomic View for CDC123 Gene

Genes around CDC123 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC123 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC123 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC123 Gene

Proteins for CDC123 Gene

  • Protein details for CDC123 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75794-CD123_HUMAN
    Recommended name:
    Cell division cycle protein 123 homolog
    Protein Accession:
    O75794
    Secondary Accessions:
    • A8JZZ7
    • Q14107
    • Q5T0L4
    • Q5T0L5
    • Q5T0L7
    • Q5T0L8
    • Q5T0L9

    Protein attributes for CDC123 Gene

    Size:
    336 amino acids
    Molecular mass:
    39135 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CDC123 Gene

Post-translational modifications for CDC123 Gene

  • Ubiquitination at Lys24, Lys104, Lys125, Lys308, Lys321, Lys327, and Lys329
  • Modification sites at PhosphoSitePlus

Other Protein References for CDC123 Gene

No data available for DME Specific Peptides for CDC123 Gene

Domains & Families for CDC123 Gene

Gene Families for CDC123 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CDC123 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDC123 Gene

GenScript: Design optimal peptide antigens:
  • PZ32 (CD123_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75794

UniProtKB/Swiss-Prot:

CD123_HUMAN :
  • Belongs to the CDC123 family.
Family:
  • Belongs to the CDC123 family.
genes like me logo Genes that share domains with CDC123: view

Function for CDC123 Gene

Molecular function for CDC123 Gene

UniProtKB/Swiss-Prot Function:
Required for S phase entry of the cell cycle.

Phenotypes From GWAS Catalog for CDC123 Gene

genes like me logo Genes that share phenotypes with CDC123: view

Animal Models for CDC123 Gene

MGI Knock Outs for CDC123:
  • Cdc123 Cdc123<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDC123

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDC123 Gene

Localization for CDC123 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC123 Gene

Cytoplasm.

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 CDC123 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CDC123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 10942595
genes like me logo Genes that share ontologies with CDC123: view

Pathways & Interactions for CDC123 Gene

PathCards logo

SuperPathways for CDC123 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CDC123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest TAS 8601400
GO:0008284 positive regulation of cell proliferation TAS 8601400
GO:0045948 positive regulation of translational initiation ISS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with CDC123: view

No data available for Pathways by source and SIGNOR curated interactions for CDC123 Gene

Drugs & Compounds for CDC123 Gene

No Compound Related Data Available

Transcripts for CDC123 Gene

mRNA/cDNA for CDC123 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 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 CDC123

Alternative Splicing Database (ASD) splice patterns (SP) for CDC123 Gene

No ASD Table

Relevant External Links for CDC123 Gene

GeneLoc Exon Structure for
CDC123

Expression for CDC123 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDC123 Gene

mRNA differential expression in normal tissues according to GTEx for CDC123 Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for CDC123 Gene

This gene is overexpressed in Bone (29.8), Pancreas (14.4), and Breast (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC123 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDC123

SOURCE GeneReport for Unigene cluster for CDC123 Gene:

Hs.412842

mRNA Expression by UniProt/SwissProt for CDC123 Gene:

O75794-CD123_HUMAN
Tissue specificity: Widely expressed. Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes with the highest expression in testis.

Evidence on tissue expression from TISSUES for CDC123 Gene

  • Bone marrow(4.3)
  • Nervous system(3.5)
  • Pancreas(2.8)
  • Blood(2.7)
  • Intestine(2.5)
  • Skin(2.4)
  • Liver(2.3)
  • Muscle(2.3)
  • Heart(2.1)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with CDC123: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC123 Gene

Orthologs for CDC123 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDC123 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDC123 30 31
  • 99.21 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CDC123 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CDC123 30 31
  • 91.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDC123 30 31
  • 89.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdc123 30 17 31
  • 88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdc123 30
  • 87.8 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CDC123 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CDC123 30 31
  • 80.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDC123 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdc123 30
  • 74.8 (n)
Str.3598 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24014 30
Zebrafish
(Danio rerio)
Actinopterygii cdc123 30 31
  • 68.15 (n)
OneToOne
zgc73119 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008049 30
  • 46.32 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04972g 30
  • 48.65 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR081C 30
  • 47.96 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC123 30 31 33
  • 46.72 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons EDA35 30
  • 48.45 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAP27G11.03 30
  • 49.43 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06497 30
  • 48.6 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for CDC123 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDC123 Gene

ENSEMBL:
Gene Tree for CDC123 (if available)
TreeFam:
Gene Tree for CDC123 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC123: view image

Paralogs for CDC123 Gene

No data available for Paralogs for CDC123 Gene

Variants for CDC123 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDC123 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
770762 Benign: not provided 12,230,999(+) A/C INTRON_VARIANT
779930 Benign: not provided 12,249,577(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CDC123 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDC123 Gene

Variant ID Type Subtype PubMed ID
esv2676569 CNV deletion 23128226
esv2733106 CNV deletion 23290073
esv2733117 CNV deletion 23290073
esv2733128 CNV deletion 23290073
esv3622363 CNV gain 21293372
esv3891757 CNV gain 25118596
nsv1133971 CNV deletion 24896259
nsv476726 CNV novel sequence insertion 20440878
nsv930475 CNV insertion 23359205

Variation tolerance for CDC123 Gene

Residual Variation Intolerance Score: 33.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.12; 69.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC123 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC123

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC123 Gene

Disorders for CDC123 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CDC123 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDC123

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CDC123: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDC123 Gene

Publications for CDC123 Gene

  1. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M … Tobin MD (Nature genetics 2011) 3 41
  2. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function. (PMID: 19833888) Simonis-Bik AM … 't Hart LM (Diabetes 2010) 3 41
  3. Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. (PMID: 20161779) Wen J … Hu R (PloS one 2010) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 41

Products for CDC123 Gene

Sources for CDC123 Gene