Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1062
Gene name	Centromere protein E
Gene symbol	CENPE
Synonyms (NCBI Gene)	CENP-EKIF10MCPH13PPP1R61
Chromosome	4
Chromosome location	4q24
Summary	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 chro

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141488085	T>C	Pathogenic	Missense variant, coding sequence variant
rs144716013	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691869	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024490	hsa-miR-215-5p	Microarray	19074876
MIRT026236	hsa-miR-192-5p	Microarray	19074876
MIRT884838	hsa-miR-203	CLIP-seq
MIRT884839	hsa-miR-219-2-3p	CLIP-seq
MIRT884840	hsa-miR-2964a-3p	CLIP-seq
MIRT884841	hsa-miR-320e	CLIP-seq
MIRT884842	hsa-miR-4793-3p	CLIP-seq
MIRT1962443	hsa-miR-4789-3p	CLIP-seq
MIRT2198811	hsa-miR-140-3p	CLIP-seq
MIRT2198812	hsa-miR-3688-5p	CLIP-seq
MIRT2198813	hsa-miR-3973	CLIP-seq
MIRT2198814	hsa-miR-4470	CLIP-seq
MIRT1962443	hsa-miR-4789-3p	CLIP-seq
MIRT2198815	hsa-miR-4799-5p	CLIP-seq
MIRT2198816	hsa-miR-548a-5p	CLIP-seq
MIRT2198817	hsa-miR-548ab	CLIP-seq
MIRT2198818	hsa-miR-548ak	CLIP-seq
MIRT2198819	hsa-miR-548b-5p	CLIP-seq
MIRT2198820	hsa-miR-548c-5p	CLIP-seq
MIRT2198821	hsa-miR-548d-5p	CLIP-seq
MIRT2198822	hsa-miR-548h	CLIP-seq
MIRT2198823	hsa-miR-548i	CLIP-seq
MIRT2198824	hsa-miR-548j	CLIP-seq
MIRT2198825	hsa-miR-548u	CLIP-seq
MIRT2198826	hsa-miR-548w	CLIP-seq
MIRT2198827	hsa-miR-548y	CLIP-seq
MIRT2198828	hsa-miR-559	CLIP-seq
MIRT2198829	hsa-miR-579	CLIP-seq
MIRT2198830	hsa-miR-642b	CLIP-seq
MIRT2198831	hsa-miR-664	CLIP-seq
MIRT2385931	hsa-miR-3925-3p	CLIP-seq
MIRT2385932	hsa-miR-766	CLIP-seq

Show/Hide all (57)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000278	Process	Mitotic cell cycle	IMP	24748105
GO:0000280	Process	Nuclear division	IEA
GO:0000775	Component	Chromosome, centromeric region	IDA	2022189, 11084331, 26321640
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	9763420, 11682612, 12925705, 25395579, 25918224
GO:0000776	Component	Kinetochore	IEA
GO:0000779	Component	Condensed chromosome, centromeric region	IDA	19465021
GO:0003777	Function	Microtubule motor activity	IDA	25908662
GO:0003777	Function	Microtubule motor activity	IEA
GO:0003777	Function	Microtubule motor activity	IMP	7889940
GO:0005515	Function	Protein binding	IPI	9763420, 17535814, 25918224, 26258632, 26321640
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IMP	9763420
GO:0005694	Component	Chromosome	IDA	2022189
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005828	Component	Kinetochore microtubule	IDA	25908662
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	7889940
GO:0005874	Component	Microtubule	IEA
GO:0007018	Process	Microtubule-based movement	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007051	Process	Spindle organization	IEA
GO:0007052	Process	Mitotic spindle organization	IMP	25908662
GO:0007059	Process	Chromosome segregation	IMP	24748105
GO:0007079	Process	Mitotic chromosome movement towards spindle pole	IDA	25908662
GO:0007079	Process	Mitotic chromosome movement towards spindle pole	TAS	1406971
GO:0007080	Process	Mitotic metaphase chromosome alignment	IMP	15843429
GO:0007080	Process	Mitotic metaphase chromosome alignment	TAS	9363944
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	25908662
GO:0008017	Function	Microtubule binding	IEA
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	IMP	2022189
GO:0030496	Component	Midbody	IDA	2022189, 9763420
GO:0043515	Function	Kinetochore binding	IDA	9763420
GO:0043515	Function	Kinetochore binding	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045860	Process	Positive regulation of protein kinase activity	IMP	12925705
GO:0051233	Component	Spindle midzone	IDA	9763420
GO:0051301	Process	Cell division	IEA
GO:0051310	Process	Metaphase chromosome alignment	IMP	23891108, 25395579, 25743205, 25908662
GO:0051315	Process	Attachment of mitotic spindle microtubules to kinetochore	IMP	15843429
GO:0051382	Process	Kinetochore assembly	IDA	9763420
GO:0072686	Component	Mitotic spindle	IDA
GO:0099606	Process	Microtubule plus-end directed mitotic chromosome migration	IDA	25908662
GO:0099607	Process	Lateral attachment of mitotic spindle microtubules to kinetochore	IMP	23891108
GO:0140694	Process	Membraneless organelle assembly	IEA
GO:1990023	Component	Mitotic spindle midzone	IDA	2022189

MIM	HGNC	e!Ensembl
117143	1856	ENSG00000138778

Q02224

Protein name

Centromere-associated protein E (Centromere protein E) (CENP-E) (Kinesin-7) (Kinesin-related protein CENPE)

Protein 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 t

PDB

1T5C , 5JVP , 6M4I , 8HFH , 8OWI , 8WHL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00225	Kinesin	12 → 329	Kinesin motor domain	Domain

Sequence

MAEEGAVAVCVRVRPLNSREESLGETAQVYWKTDNNVIYQVDGSKSFNFDRVFHGNETTK
NVYEEIAAPIIDSAIQGYNGTIFAYGQTASGKTYTMMGSEDHLGVIPRAIHDIFQKIKKF
PDREFLLRVSYMEIYNETITDLLCGTQKMKPLIIREDVNRNVYVADLTEEVVYTSEMALK
WITKGEKSRHYGETKMNQRSSRSHTIFRMILESREKGEPSNCEGSVKVSHLNLVDLAGSE
RAAQTGAAGVRLKEGCNINRSLFILGQVIKKLSDGQVGGFINYRDSKLTRILQNSLGGNA
KTRIICTITPVSFDETLTALQFASTAKYMKNTPYVNEVSTDEALLKRYRKEIMDLKKQLE
EVSLETRAQAMEKDQLAQLLEEKDLLQKVQNEKIENLTRMLVTSSSLTLQQELKAKRKRR
VTWCLGKINKMKNSNYADQFNIPTNITTKTHKLSINLLREIDESVCSESDVFSNTLDTLS
EIEWNPATKLLNQENIESELNSLRADYDNLVLDYEQLRTEKEEMELKLKEKNDLDEFEAL
ERKTKKDQEMQLIHEISNLKNLVKHAEVYNQDLENELSSKVELLREKEDQIKKLQEYIDS
QKLENIKMDLSYSLESIEDPKQMKQTLFDAETVALDAKRESAFLRSENLELKEKMKELAT
TYKQMENDIQLYQSQLEAKKKMQVDLEKELQSAFNEITKLTSLIDGKVPKDLLCNLELEG
KITDLQKELNKEVEENEALREEVILLSELKSLPSEVERLRKEIQDKSEELHIITSEKDKL
FSEVVHKESRVQGLLEEIGKTKDDLATTQSNYKSTDQEFQNFKTLHMDFEQKYKMVLEEN
ERMNQEIVNLSKEAQKFDSSLGALKTELSYKTQELQEKTREVQERLNEMEQLKEQLENRD
STLQTVEREKTLITEKLQQTLEEVKTLTQEKDDLKQLQESLQIERDQLKSDIHDTVNMNI
DTQEQLRNALESLKQHQETINTLKSKISEEVSRNLHMEENTGETKDEFQQKMVGIDKKQD
LEAKNTQTLTADVKDNEIIEQQRKIFSLIQEKNELQQMLESVIAEKEQLKTDLKENIEMT
IENQEELRLLGDELKKQQEIVAQEKNHAIKKEGELSRTCDRLAEVEEKLKEKSQQLQEKQ
QQLLNVQEEMSEMQKKINEIENLKNELKNKELTLEHMETERLELAQKLNENYEEVKSITK
ERKVLKELQKSFETERDHLRGYIREIEATGLQTKEELKIAHIHLKEHQETIDELRRSVSE
KTAQIINTQDLEKSHTKLQEEIPVLHEEQELLPNVKEVSETQETMNELELLTEQSTTKDS
TTLARIEMERLRLNEKFQESQEEIKSLTKERDNLKTIKEALEVKHDQLKEHIRETLAKIQ
ESQSKQEQSLNMKEKDNETTKIVSEMEQFKPKDSALLRIEIEMLGLSKRLQESHDEMKSV
AKEKDDLQRLQEVLQSESDQLKENIKEIVAKHLETEEELKVAHCCLKEQEETINELRVNL
SEKETEISTIQKQLEAINDKLQNKIQEIYEKEEQFNIKQISEVQEKVNELKQFKEHRKAK
DSALQSIESKMLELTNRLQESQEEIQIMIKEKEEMKRVQEALQIERDQLKENTKEIVAKM
KESQEKEYQFLKMTAVNETQEKMCEIEHLKEQFETQKLNLENIETENIRLTQILHENLEE
MRSVTKERDDLRSVEETLKVERDQLKENLRETITRDLEKQEELKIVHMHLKEHQETIDKL
RGIVSEKTNEISNMQKDLEHSNDALKAQDLKIQEELRIAHMHLKEQQETIDKLRGIVSEK
TDKLSNMQKDLENSNAKLQEKIQELKANEHQLITLKKDVNETQKKVSEMEQLKKQIKDQS
LTLSKLEIENLNLAQKLHENLEEMKSVMKERDNLRRVEETLKLERDQLKESLQETKARDL
EIQQELKTARMLSKEHKETVDKLREKISEKTIQISDIQKDLDKSKDELQKKIQELQKKEL
QLLRVKEDVNMSHKKINEMEQLKKQFEAQNLSMQSVRMDNFQLTKKLHESLEEIRIVAKE
RDELRRIKESLKMERDQFIATLREMIARDRQNHQVKPEKRLLSDGQQHLTESLREKCSRI
KELLKRYSEMDDHYECLNRLSLDLEKEIEFQKELSMRVKANLSLPYLQTKHIEKLFTANQ
RCSMEFHRIMKKLKYVLSYVTKIKEEQHESINKFEMDFIDEVEKQKELLIKIQHLQQDCD
VPSRELRDLKLNQNMDLHIEEILKDFSESEFPSIKTEFQQVLSNRKEMTQFLEEWLNTRF
DIEKLKNGIQKENDRICQVNNFFNNRIIAIMNESTEFEERSATISKEWEQDLKSLKEKNE
KLFKNYQTLKTSLASGAQVNPTTQDNKNPHVTSRATQLTTEKIRELENSLHEAKESAMHK
ESKIIKMQKELEVTNDIIAKLQAKVHESNKCLEKTKETIQVLQDKVALGAKPYKEEIEDL
KMKLVKIDLEKMKNAKEFEKEISATKATVEYQKEVIRLLRENLRRSQQAQDTSVISEHTD
PQPSNKPLTCGGGSGIVQNTKALILKSEHIRLEKEISKLKQQNEQLIKQKNELLSNNQHL
SNEVKTWKERTLKREAHKQVTCENSPKSPKVTGTASKKKQITPSQCKERNLQDPVPKESP
KSCFFDSRSKSLPSPHPVRYFDNSSLGLCPEVQNAGAESVDSQPGPWHASSGKDVPECKT
Q

Sequence length

2701

Interactions

View interactions

	KEGG		Reactome
	Motor proteins		Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins COPI-dependent Golgi-to-ER retrograde traffic Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation Kinesins

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephaly 13, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs144716013, rs2476023716, rs2476093208, rs1754377539	RCV000144849 RCV003990230 RCV003990459 RCV001199271

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs116708592, rs61744934, rs62327334	RCV005917872 RCV005915228 RCV005915599
Autism	Uncertain significance	rs1560630597	RCV000722088
CENPE-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs148969710, rs2306106, rs1560621003, rs762068581, rs141354341, rs752063990, rs777585361, rs182744810, rs145082410, rs2477302089, rs139943753, rs201196207, rs749483298, rs772347636, rs191402905 View all (10 more)	RCV003953648 RCV003975793 RCV003401686 RCV004746456 RCV003937765 RCV003410246 RCV003399534 RCV003412184 RCV003908947 RCV003983485 RCV003959825 RCV003951742 RCV003937143 RCV003939428 RCV003981824 RCV003977000 RCV003922684 RCV003962372 RCV003962373 RCV004746182 RCV004746183 RCV003975658 RCV003975769 RCV003895611 RCV003903130
Cervical cancer	Benign	rs61744934	RCV005915230
Cholangiocarcinoma	Benign	rs62327334	RCV005915602
Gastric cancer	Benign	rs61744934	RCV005915231
Hepatocellular carcinoma	Likely benign	rs115442639	RCV005903091
Lung cancer	Likely benign; Benign	rs142454393, rs61744934	RCV005917681 RCV005915233
Malignant lymphoma, large B-cell, diffuse	Benign	rs2720453, rs17283278	RCV005922169 RCV005923440
Malignant tumor of esophagus	Benign	rs61744934, rs62327334	RCV005915229 RCV005915600
Ovarian serous cystadenocarcinoma	Likely benign	rs116708592	RCV005917874
Sarcoma	Likely benign; Benign	rs116708592, rs76762451	RCV005917873 RCV005922154
See cases	Conflicting classifications of pathogenicity	rs116330917	RCV002252708
Thymoma	Benign	rs61744934, rs62327334	RCV005915232 RCV005915601
Uterine carcinosarcoma	Benign	rs2720453, rs17283278	RCV005922170 RCV005923441
Uterine corpus endometrial carcinoma	Benign	rs62327334	RCV005915603
Uveal melanoma	Benign	rs2720453	RCV005922168

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	30716092
Adenocarcinoma	Stimulate	37866883
Aneuploidy	Inhibit	20021663
Aneuploidy	Associate	34573304, 40401507
Autism Spectrum Disorder	Associate	30559312
Autosomal Recessive Primary Microcephaly	Associate	24748105, 37593739
Barrett Esophagus	Associate	37866883
Behcet Syndrome	Associate	37335738
Breast Neoplasms	Associate	27368372, 34745136, 35456460, 37592220
Carcinoma Hepatocellular	Inhibit	20021663, 31881483
Carcinoma Hepatocellular	Associate	36894886
Carcinoma Renal Cell	Associate	37925501
Chromosomal Instability	Associate	26943579, 36989302
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Associate	24748105
Colorectal Neoplasms	Associate	23637064, 34373442, 35774271
COVID 19	Associate	37335738
Developmental Disabilities	Associate	24748105, 30559312
Diabetes Gestational	Associate	30474315
Endometrial Neoplasms	Associate	23167388
Esophageal Neoplasms	Associate	35496042
Esophageal Squamous Cell Carcinoma	Stimulate	30716092
Esophageal Squamous Cell Carcinoma	Associate	35496042
Fibrosis	Associate	23597419
Glioma	Associate	22022424
Hypoxia	Associate	34573304
Leukemia Myeloid Acute	Associate	35634845
Lissencephaly	Associate	24748105
Lupus Erythematosus Systemic	Associate	34079550
Lymphoma Non Hodgkin	Associate	26933822
Medulloblastoma	Stimulate	37593739
Melanoma	Associate	24850177
Microcephalic Osteodysplastic Primordial Dwarfism Type II	Associate	24748105
Microcephaly	Associate	33742057
Microphthalmia Isolated 1	Associate	24748105
Neoplasm Metastasis	Inhibit	31881483
Neoplasms	Associate	19779646, 22948716, 23236152, 32679092, 33361741, 34482803, 34573304, 35496042, 37593739, 37925501
Neoplasms	Inhibit	31881483, 40401507
Neuroblastoma	Associate	22948716
Osteosarcoma	Associate	33176597
Ovarian Neoplasms	Associate	33361741, 37479754
Pancreatic Neoplasms	Associate	19139111
Primary Ovarian Insufficiency	Associate	36099812
Pulmonary Arterial Hypertension	Associate	32586319
Respiratory Distress Syndrome	Associate	26507871
Retinoblastoma	Associate	34482803
Seckel syndrome 1	Associate	24748105, 33742057
Stomach Neoplasms	Stimulate	34617858
Synovial Cyst	Stimulate	11056662
Tissue Adhesions	Associate	34968168
Uveal melanoma	Associate	32415113

CENPE (centromere protein E)