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Aliases for CEP126 Gene

Aliases for CEP126 Gene

  • Centrosomal Protein 126 2 3 5
  • KIAA1377 2 3 4
  • Centrosomal Protein 126kDa 2 3
  • Centrosomal Protein Of 126 KDa 3

External Ids for CEP126 Gene

Previous HGNC Symbols for CEP126 Gene

  • KIAA1377

Summaries for CEP126 Gene

GeneCards Summary for CEP126 Gene

CEP126 (Centrosomal Protein 126) is a Protein Coding gene. Diseases associated with CEP126 include Amyotrophy, Monomelic.

UniProtKB/Swiss-Prot for CEP126 Gene

  • Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236).

Gene Wiki entry for CEP126 Gene

Additional gene information for CEP126 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEP126 Gene

Genomics for CEP126 Gene

GeneHancer (GH) Regulatory Elements for CEP126 Gene

Promoters and enhancers for CEP126 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
GH11J101911 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.8 -761 5 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 CEP126 TRPC6 ANGPTL5
GH11J102108 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.7 +198.4 198358 9.7 PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YAP1 BIRC2 DYNC2H1 PGR CEP126 ENSG00000255504 ENSG00000277459 ENSG00000260008 ENSG00000254422
GH11J101861 Enhancer 0.9 Ensembl ENCODE 8.3 -51.5 -51463 3.2 ELF3 SOX13 CTCF FOXA2 ZNF792 JUN CEBPG ZNF644 RAD21 TEAD3 CEP126 PIR36183 TRPC6
GH11J101865 Enhancer 0.9 ENCODE 8.1 -47.9 -47907 2.7 ELF3 FOXA2 ARID4B DMAP1 RAD21 RARA YY1 EGR1 RCOR1 CREM CEP126 PIR36183 TRPC6
GH11J101860 Enhancer 0.6 ENCODE 11.9 -54.1 -54080 0.2 CTCF ZNF654 CEBPB RAD21 RFX5 MAFF ZNF585B ZNF341 ZNF143 SMC3 PIR36183 CEP126 TRPC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEP126 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CEP126 Gene

Genomic Locations for CEP126 Gene
chr11:101,915,015-102,001,065
(GRCh38/hg38)
Size:
86,051 bases
Orientation:
Plus strand
chr11:101,785,746-101,871,793
(GRCh37/hg19)

Genomic View for CEP126 Gene

Genes around CEP126 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP126 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP126 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP126 Gene

Proteins for CEP126 Gene

  • Protein details for CEP126 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2H0-CE126_HUMAN
    Recommended name:
    Centrosomal protein of 126 kDa
    Protein Accession:
    Q9P2H0
    Secondary Accessions:
    • Q4G0U6

    Protein attributes for CEP126 Gene

    Size:
    1117 amino acids
    Molecular mass:
    125870 Da
    Quaternary structure:
    • Interacts with DCTN1.
    Miscellaneous:
    • Depletion of CEP126 by siRNA results in an increase in cytokinesis aberrant cells.

neXtProt entry for CEP126 Gene

Post-translational modifications for CEP126 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP126 Gene

No data available for DME Specific Peptides for CEP126 Gene

Domains & Families for CEP126 Gene

Gene Families for CEP126 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP126 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CEP126: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CEP126 Gene

Function for CEP126 Gene

Molecular function for CEP126 Gene

UniProtKB/Swiss-Prot Function:
Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236).

Phenotypes From GWAS Catalog for CEP126 Gene

Gene Ontology (GO) - Molecular Function for CEP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15383276
genes like me logo Genes that share ontologies with CEP126: view

Phenotypes for CEP126 Gene

genes like me logo Genes that share phenotypes with CEP126: view

Human Phenotype Ontology for CEP126 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP126

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CEP126 Gene

Localization for CEP126 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP126 Gene

Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body.

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 CEP126 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,IDA 24867236
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0030496 midbody IDA 19799413
genes like me logo Genes that share ontologies with CEP126: view

Pathways & Interactions for CEP126 Gene

SuperPathways for CEP126 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP126 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007052 mitotic spindle organization IMP,IEA 24867236
GO:0030030 cell projection organization IEA --
GO:0031122 cytoplasmic microtubule organization IEA,IMP 24867236
GO:0060271 cilium assembly IMP 24867236
GO:1905515 non-motile cilium assembly IEA --
genes like me logo Genes that share ontologies with CEP126: view

No data available for Pathways by source and SIGNOR curated interactions for CEP126 Gene

Drugs & Compounds for CEP126 Gene

No Compound Related Data Available

Transcripts for CEP126 Gene

mRNA/cDNA for CEP126 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP126

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP126 Gene

No ASD Table

Relevant External Links for CEP126 Gene

GeneLoc Exon Structure for
CEP126
ECgene alternative splicing isoforms for
CEP126

Expression for CEP126 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEP126 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CEP126 Gene

This gene is overexpressed in Monocytes (50.4) and NK cells (18.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEP126 Gene



Protein tissue co-expression partners for CEP126 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CEP126 Gene:

CEP126

mRNA Expression by UniProt/SwissProt for CEP126 Gene:

Q9P2H0-CE126_HUMAN
Tissue specificity: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary.

Evidence on tissue expression from TISSUES for CEP126 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP126 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CEP126: view

No data available for mRNA differential expression in normal tissues for CEP126 Gene

Orthologs for CEP126 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP126 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1377 34 33
  • 98.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIAA1377 34 33
  • 83.99 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIAA1377 34 33
  • 81.72 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1563556 33
  • 76.65 (n)
mouse
(Mus musculus)
Mammalia AK129341 34 33
  • 76.18 (n)
OneToOne
Cep126 16
oppossum
(Monodelphis domestica)
Mammalia KIAA1377 34
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1377 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves KIAA1377 34 33
  • 53.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KIAA1377 34
  • 30 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-3b8.4 34
  • 22 (a)
OneToOne
Species where no ortholog for CEP126 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CEP126 Gene

ENSEMBL:
Gene Tree for CEP126 (if available)
TreeFam:
Gene Tree for CEP126 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP126: view image

Paralogs for CEP126 Gene

No data available for Paralogs for CEP126 Gene

Variants for CEP126 Gene

Sequence variations from dbSNP and Humsavar for CEP126 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000004637 -- 101,971,896(+) C/A intron_variant
rs1000061786 -- 101,968,194(+) G/A intron_variant
rs1000073069 -- 101,988,990(+) T/C intron_variant
rs1000133198 -- 101,989,311(+) G/C intron_variant
rs1000246717 -- 101,985,572(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CEP126 Gene

Variant ID Type Subtype PubMed ID
esv1725395 CNV insertion 17803354
esv2432654 CNV insertion 19546169
nsv1052159 CNV gain 25217958
nsv469989 CNV loss 18288195
nsv513332 CNV insertion 21212237
nsv556140 CNV loss 21841781
nsv832250 CNV gain 17160897

Variation tolerance for CEP126 Gene

Residual Variation Intolerance Score: 94.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.31; 85.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP126 Gene

Human Gene Mutation Database (HGMD)
CEP126
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP126

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP126 Gene

Disorders for CEP126 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEP126 Gene - From: Orphanet

Disorder Aliases PubMed IDs
amyotrophy, monomelic
  • hirayama disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CEP126

genes like me logo Genes that share disorders with CEP126: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP126 Gene

Publications for CEP126 Gene

  1. Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation. (PMID: 24867236) Bonavita R … Colanzi A (Biology of the cell 2014) 2 3 4 58
  2. Identification of novel mitosis regulators through data mining with human centromere/kinetochore proteins as group queries. (PMID: 22712476) Tipton AR … Liu ST (BMC cell biology 2012) 2 3 58
  3. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. (PMID: 22264561) Lim YM … Kim KK (Neuromuscular disorders : NMD 2012) 3 4 58
  4. From midbody protein-protein interaction network construction to novel regulators in cytokinesis. (PMID: 19799413) Chen TC … Huang CY (Journal of proteome research 2009) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58

Products for CEP126 Gene

Sources for CEP126 Gene

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