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Aliases for CENPE Gene

Aliases for CENPE Gene

  • Centromere Protein E 2 3 4 5
  • Protein Phosphatase 1, Regulatory Subunit 61 2 3
  • Kinesin-Related Protein CENPE 3 4
  • Centromere Protein E, 312kDa 2 3
  • Kinesin-7 3 4
  • CENP-E 3 4
  • Centromere Autoantigen E (312kD) 3
  • Centromere-Associated Protein E 3
  • Centromere Protein E (312kD) 2
  • Kinesin Family Member 10 3
  • PPP1R61 3
  • MCPH13 3
  • KIF10 3

External Ids for CENPE Gene

Previous GeneCards Identifiers for CENPE Gene

  • GC04M104426
  • GC04M104486
  • GC04M104384
  • GC04M104246
  • GC04M104027
  • GC04M099760

Summaries for CENPE Gene

Entrez Gene Summary for CENPE Gene

  • Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]

GeneCards Summary for CENPE Gene

CENPE (Centromere Protein E) is a Protein Coding gene. Diseases associated with CENPE include Microcephaly 13, Primary, Autosomal Recessive and Seckel Syndrome. Among its related pathways are Cell Cycle, Mitotic and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and obsolete signal transducer activity. An important paralog of this gene is KIF15.

UniProtKB/Swiss-Prot for CENPE Gene

  • Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Drives chromosome congression (alignment of chromosomes at the spindle equator resulting in the formation of the metaphase plate) by mediating the lateral sliding of polar chromosomes along spindle microtubules towards the spindle equator and by aiding the establishment and maintenance of connections between kinetochores and spindle microtubules (PubMed:7889940, PubMed:23891108, PubMed:25395579). The transport of pole-proximal chromosomes towards the spindle equator is favored by microtubule tracks that are detyrosinated (PubMed:25908662). Acts as a processive bi-directional tracker of dynamic microtubule tips; after chromosomes have congressed, continues to play an active role at kinetochores, enhancing their links with dynamic microtubule ends (PubMed:23955301). Suppresses chromosome congression in NDC80-depleted cells and contributes positively to congression only when microtubules are stabilized (PubMed:25743205). Plays an important role in the formation of stable attachments between kinetochores and spindle microtubules (PubMed:17535814) The stabilization of kinetochore-microtubule attachment also requires CENPE-dependent localization of other proteins to the kinetochore including BUB1B, MAD1 and MAD2. Plays a role in spindle assembly checkpoint activation (SAC) via its interaction with BUB1B resulting in the activation of its kinase activity, which is important for activating SAC. Necessary for the mitotic checkpoint signal at individual kinetochores to prevent aneuploidy due to single chromosome loss (By similarity).

Gene Wiki entry for CENPE Gene

Additional gene information for CENPE Gene

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

Genomics for CENPE Gene

GeneHancer (GH) Regulatory Elements for CENPE Gene

Promoters and enhancers for CENPE 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
GH04J103197 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.3 305 2.2 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 E2F8 ZNF207 ZNF143 CENPE BDH2 NFKB1 UBE2D3 LOC100419096 MANBA KRT8P46
GH04J103199 Enhancer 0.2 ENCODE 650.7 -1.1 -1074 0.1 CENPE LINC02428
GH04J103200 Enhancer 0.6 ENCODE 0.7 -2.6 -2582 1.9 ZNF316 MAFF FOXA2 ZSCAN4 MAFG SMAD4 EMSY MAFK BDH2 KRT8P46 SLC9B2 ENSG00000248161 CENPE LINC02428
GH04J103136 Enhancer 0.6 Ensembl ENCODE 0.2 +60.9 60887 1.8 JUN SCRT2 BDH2 KRT8P46 ENSG00000260651 CENPE
GH04J103150 Enhancer 0.5 ENCODE 0.2 +47.5 47530 0.2 SP1 GATA3 JUND FOSL2 FOS CENPE BDH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CENPE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CENPE gene promoter:

Genomic Locations for CENPE Gene

Genomic Locations for CENPE Gene
chr4:103,105,806-103,198,409
(GRCh38/hg38)
Size:
92,604 bases
Orientation:
Minus strand
chr4:104,026,963-104,119,566
(GRCh37/hg19)

Genomic View for CENPE Gene

Genes around CENPE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CENPE Gene

Proteins for CENPE Gene

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

    Protein Symbol:
    Q02224-CENPE_HUMAN
    Recommended name:
    Centromere-associated protein E
    Protein Accession:
    Q02224
    Secondary Accessions:
    • A6NKY9
    • A8K2U7
    • Q4LE75

    Protein attributes for CENPE Gene

    Size:
    2701 amino acids
    Molecular mass:
    316415 Da
    Quaternary structure:
    • Monomer (PubMed:15236970). Interacts with CENPF (PubMed:9763420). Interacts with BUB1B (PubMed:9763420, PubMed:19625775). Interacts with SEPT7 (PubMed:18460473). Interacts with KIF18A (PubMed:19625775). Interacts with PRC1 (PubMed:15297875). Interacts with NUF2; this interaction determines kinetochore localization (PubMed:17535814). Interacts with SKAP; this interaction greatly favors SKAP binding to microtubules (PubMed:22110139). Interacts with TRAPPC12 (PubMed:25918224). Interacts with CTCF (PubMed:25395579).
    SequenceCaution:
    • Sequence=BAE06078.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CENPE Gene

    Alternative splice isoforms for CENPE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CENPE Gene

Post-translational modifications for CENPE Gene

  • The C-terminal inhibitory domain is phosphorylated. Phosphorylation relieves autoinhibition of the kinetochore motor (By similarity).
  • Sumoylated with SUMO2 and SUMO3. The sumoylation mediates the association to the kinetochore.
  • Ubiquitination at posLast=19371937
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CENPE Gene

Domains & Families for CENPE Gene

Gene Families for CENPE Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CENPE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02224

UniProtKB/Swiss-Prot:

CENPE_HUMAN :
  • The protein is composed of a N-terminal kinesin-motor domain involved in the chromosome movements, a long coil-coiled region involved in the homodimerization and an inhibitory C-tail involved in autoinhibition of the N-terminal catalytic part.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
Domain:
  • The protein is composed of a N-terminal kinesin-motor domain involved in the chromosome movements, a long coil-coiled region involved in the homodimerization and an inhibitory C-tail involved in autoinhibition of the N-terminal catalytic part.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family.
genes like me logo Genes that share domains with CENPE: view

Function for CENPE Gene

Molecular function for CENPE Gene

UniProtKB/Swiss-Prot Function:
Microtubule plus-end-directed kinetochore motor which plays an important role in chromosome congression, microtubule-kinetochore conjugation and spindle assembly checkpoint activation. Drives chromosome congression (alignment of chromosomes at the spindle equator resulting in the formation of the metaphase plate) by mediating the lateral sliding of polar chromosomes along spindle microtubules towards the spindle equator and by aiding the establishment and maintenance of connections between kinetochores and spindle microtubules (PubMed:7889940, PubMed:23891108, PubMed:25395579). The transport of pole-proximal chromosomes towards the spindle equator is favored by microtubule tracks that are detyrosinated (PubMed:25908662). Acts as a processive bi-directional tracker of dynamic microtubule tips; after chromosomes have congressed, continues to play an active role at kinetochores, enhancing their links with dynamic microtubule ends (PubMed:23955301). Suppresses chromosome congression in NDC80-depleted cells and contributes positively to congression only when microtubules are stabilized (PubMed:25743205). Plays an important role in the formation of stable attachments between kinetochores and spindle microtubules (PubMed:17535814) The stabilization of kinetochore-microtubule attachment also requires CENPE-dependent localization of other proteins to the kinetochore including BUB1B, MAD1 and MAD2. Plays a role in spindle assembly checkpoint activation (SAC) via its interaction with BUB1B resulting in the activation of its kinase activity, which is important for activating SAC. Necessary for the mitotic checkpoint signal at individual kinetochores to prevent aneuploidy due to single chromosome loss (By similarity).
GENATLAS Biochemistry:
centromere protein E (312kDa),component of the outer kinetochore,microtubule associated kinesin motor protein,ATP dependent superfamily,required for the metaphase-anaphase transition in mitosis and meiosis II

Phenotypes From GWAS Catalog for CENPE Gene

Gene Ontology (GO) - Molecular Function for CENPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA,IMP 7889940
GO:0005515 protein binding IPI 9763420
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IDA,IEA 25908662
genes like me logo Genes that share ontologies with CENPE: view
genes like me logo Genes that share phenotypes with CENPE: view

Human Phenotype Ontology for CENPE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CENPE Gene

MGI Knock Outs for CENPE:
  • Cenpe Cenpe<tm1b(EUCOMM)Hmgu>
  • Cenpe Cenpe<tm1Dwc>

Animal Model Products

miRNA for CENPE Gene

miRTarBase miRNAs that target CENPE

Clone Products

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

Localization for CENPE Gene

Subcellular locations from UniProtKB/Swiss-Prot for CENPE Gene

Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere. Note=Associates with kinetochores during congression (as early as prometaphase), relocates to the spindle midzone at anaphase, and is quantitatively discarded at the end of the cell division (By similarity). Recruited to the kinetochore in a SEPT7, CENPQ and TRAPPC12-dependent manner (PubMed:18460473, PubMed:25918224, PubMed:25395579). Recruited to the pericentromeric/centromeric regions of the chromosome in a CTCF-dependent manner (PubMed:26321640). {ECO:0000250 UniProtKB:Q6RT24, ECO:0000269 PubMed:18460473, ECO:0000269 PubMed:25395579, ECO:0000269 PubMed:25918224, ECO:0000269 PubMed:26321640}.

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 CENPE gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CENPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IDA,IEA 2022189
GO:0000776 kinetochore IEA,IDA 11682612
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000779 condensed chromosome, centromeric region IDA 19465021
GO:0000940 colocalizes_with condensed chromosome outer kinetochore TAS 9763420
genes like me logo Genes that share ontologies with CENPE: view

Pathways & Interactions for CENPE Gene

genes like me logo Genes that share pathways with CENPE: view

Pathways by source for CENPE Gene

1 Cell Signaling Technology pathway for CENPE Gene

Gene Ontology (GO) - Biological Process for CENPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 24748105
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0007018 microtubule-based movement TAS,IEA --
GO:0007049 cell cycle IEA --
GO:0007052 mitotic spindle organization IMP 25908662
genes like me logo Genes that share ontologies with CENPE: view

No data available for SIGNOR curated interactions for CENPE Gene

Drugs & Compounds for CENPE Gene

(7) Drugs for CENPE Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GSK-923295 Investigational Pharma inhibitor, Target CENP-E inhibitor,small-molecule, Kinesin protein inhibitors 0

(1) Additional Compounds for CENPE Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for CENPE Gene

Compound Action Cas Number
GSK-923295 CENP-E inhibitor,small-molecule 1088965-37-0
genes like me logo Genes that share compounds with CENPE: view

Drug Products

Transcripts for CENPE Gene

Unigene Clusters for CENPE Gene

Centromere protein E, 312kDa:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for CENPE Gene

GeneLoc Exon Structure for
CENPE
ECgene alternative splicing isoforms for
CENPE

Expression for CENPE Gene

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

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

This gene is overexpressed in Testis (x4.1).

Protein differential expression in normal tissues from HIPED for CENPE Gene

This gene is overexpressed in Monocytes (28.6), Spleen (9.5), Lung (8.5), and NK cells (7.5).

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



NURSA nuclear receptor signaling pathways regulating expression of CENPE Gene:

CENPE

SOURCE GeneReport for Unigene cluster for CENPE Gene:

Hs.75573

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CENPE: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for CENPE Gene

Orthologs for CENPE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CENPE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CENPE 34 33
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CENPE 34 33
  • 86.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CENPE 34 33
  • 86.28 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cenpe 33
  • 74.9 (n)
mouse
(Mus musculus)
Mammalia Cenpe 16 34 33
  • 73.88 (n)
oppossum
(Monodelphis domestica)
Mammalia CENPE 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves CENPE 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17159 33
African clawed frog
(Xenopus laevis)
Amphibia cenpe-A 33
zebrafish
(Danio rerio)
Actinopterygii cenpe 34
  • 28 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta cana 34 35
  • 23 (a)
OneToMany
cmet 34 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hcp-2 35
  • 19 (a)
corn
(Zea mays)
Liliopsida Zm.7330 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToOne
Species where no ortholog for CENPE was found in the sources mined by GeneCards:
  • 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for CENPE Gene

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

Paralogs for CENPE Gene

(15) SIMAP similar genes for CENPE Gene using alignment to 3 proteins:

  • CENPE_HUMAN
  • D6RBW0_HUMAN
  • D6RHK2_HUMAN

Pseudogenes.org Pseudogenes for CENPE Gene

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

Variants for CENPE Gene

Sequence variations from dbSNP and Humsavar for CENPE Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs141488085 pathogenic, Primary autosomal recessive microcephaly 13, Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051] 103,147,427(-) T/C coding_sequence_variant, missense_variant
rs144716013 pathogenic, likely-pathogenic, Primary autosomal recessive microcephaly 13, not provided, Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051] 103,158,691(-) C/A/T coding_sequence_variant, missense_variant
rs35505100 likely-benign, not provided 103,146,038(-) T/C coding_sequence_variant, missense_variant
rs61751592 likely-benign, not provided 103,123,040(-) G/C coding_sequence_variant, missense_variant
rs140630684 likely-benign, not specified 103,120,255(-) G/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv1606562 CNV deletion 17803354
esv2554056 CNV loss 19546169
esv2675893 CNV deletion 23128226
esv2728082 CNV deletion 23290073
esv2759270 CNV gain 17122850
nsv1015023 CNV gain 25217958
nsv830021 CNV loss 17160897
nsv830022 CNV loss 17160897
nsv950371 CNV duplication 24416366

Variation tolerance for CENPE Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.38; 77.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CENPE Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CENPE Gene

MalaCards: The human disease database

(3) MalaCards diseases for CENPE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 13, primary, autosomal recessive
  • mcph13
seckel syndrome
  • sckl
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search CENPE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CENPE_HUMAN
  • Microcephaly 13, primary, autosomal recessive (MCPH13) [MIM:616051]: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. {ECO:0000269 PubMed:24748105}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CENPE

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

No data available for Genatlas for CENPE Gene

Publications for CENPE Gene

  1. Defects in chromosome congression and mitotic progression in KIF18A-deficient cells are partly mediated through impaired functions of CENP-E. (PMID: 19625775) Huang Y … Dai W (Cell cycle (Georgetown, Tex.) 2009) 3 4 22 58
  2. SUMO-2/3 modification and binding regulate the association of CENP-E with kinetochores and progression through mitosis. (PMID: 18374647) Zhang XD … Matunis MJ (Molecular cell 2008) 3 4 22 58
  3. Human NUF2 interacts with centromere-associated protein E and is essential for a stable spindle microtubule-kinetochore attachment. (PMID: 17535814) Liu D … Yao X (The Journal of biological chemistry 2007) 3 4 22 58
  4. Essential roles of KIF4 and its binding partner PRC1 in organized central spindle midzone formation. (PMID: 15297875) Kurasawa Y … Todokoro K (The EMBO journal 2004) 3 4 22 58
  5. Crystal structure of the motor domain of the human kinetochore protein CENP-E. (PMID: 15236970) Garcia-Saez I … Kozielski F (Journal of molecular biology 2004) 3 4 22 58

Products for CENPE Gene

Sources for CENPE Gene

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