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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	22995
Gene name Gene Name - the full gene name approved by the HGNC.	Centrosomal protein 152
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CEP152
Synonyms (NCBI Gene) Gene synonyms aliases	MCPH4, MCPH9, SCKL5
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010

Show/Hide all(31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74553953	G>C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs141600901	CA>-	Likely-benign, benign-likely-benign, pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant, intron variant
rs182018947	A>C,G	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant
rs188101277	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs200879436	T>C	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant, non coding transcript variant
rs200957146	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs201342438	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201442213	G>A	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs267606717	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs267606718	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs374200686	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs398122977	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs537556482	C>T	Likely-pathogenic	3 prime UTR variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs587783414	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs587783421	G>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs587783423	T>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs751691427	C>T	Likely-pathogenic	Intron variant
rs754267846	A>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs760130069	T>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs770971891	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs776652341	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs869312853	TT>A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs886039327	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs966888627	C>A,G,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1064793906	AG>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1342429887	C>T	Likely-pathogenic	Genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1349385657	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1555416269	GTT>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant, non coding transcript variant
rs1555418825	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1566971734	T>-	Likely-pathogenic	3 prime UTR variant, intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1567024512	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant

Show/Hide all(24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031041	hsa-miR-21-5p	Microarray	18591254
MIRT048076	hsa-miR-197-3p	CLASH	23622248
MIRT047867	hsa-miR-30c-5p	CLASH	23622248
MIRT046124	hsa-miR-30b-5p	CLASH	23622248
MIRT040946	hsa-miR-18a-3p	CLASH	23622248
MIRT040600	hsa-miR-92b-3p	CLASH	23622248
MIRT039610	hsa-miR-615-3p	CLASH	23622248
MIRT039254	hsa-miR-454-5p	CLASH	23622248
MIRT036813	hsa-miR-877-3p	CLASH	23622248
MIRT036267	hsa-miR-1229-3p	CLASH	23622248
MIRT885736	hsa-miR-141	CLIP-seq
MIRT885737	hsa-miR-200a	CLIP-seq
MIRT885738	hsa-miR-2467-3p	CLIP-seq
MIRT885739	hsa-miR-3158-5p	CLIP-seq
MIRT885740	hsa-miR-3174	CLIP-seq
MIRT885741	hsa-miR-3678-3p	CLIP-seq
MIRT885742	hsa-miR-4418	CLIP-seq
MIRT885743	hsa-miR-509-3-5p	CLIP-seq
MIRT885744	hsa-miR-509-5p	CLIP-seq
MIRT885745	hsa-miR-759	CLIP-seq
MIRT2198990	hsa-miR-29a	CLIP-seq
MIRT2198991	hsa-miR-29b	CLIP-seq
MIRT2198992	hsa-miR-29c	CLIP-seq
MIRT2198993	hsa-miR-4789-5p	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000242	Component	Pericentriolar material	IDA	26337392
GO:0005515	Function	Protein binding	IPI	20852615, 21059844, 21131973, 24997597, 26188084, 26297806, 26496610, 26638075, 35709258, 35849559
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21131973, 21399614, 35849559
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	22020124, 26337392, 32060285
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007099	Process	Centriole replication	IBA
GO:0007099	Process	Centriole replication	IDA	21059844
GO:0007099	Process	Centriole replication	IEA
GO:0007099	Process	Centriole replication	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0019901	Function	Protein kinase binding	IPI	20852615, 21059844
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0051298	Process	Centrosome duplication	IMP	20852615
GO:0098535	Process	De novo centriole assembly involved in multi-ciliated epithelial cell differentiation	IEA
GO:0098535	Process	De novo centriole assembly involved in multi-ciliated epithelial cell differentiation	ISS
GO:0098536	Component	Deuterosome	IEA
GO:0098536	Component	Deuterosome	ISS
GO:0120098	Component	Procentriole	IDA	24997597
GO:0120099	Component	Procentriole replication complex	IPI	24997597

MIM	HGNC	e!Ensembl
613529	29298	ENSG00000103995

Protein

UniProt ID

O94986

Protein name

Centrosomal protein of 152 kDa (Cep152)

Protein function

Necessary for centrosome duplication; the function also seems to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecula

PDB

4N7V , 6CSU , 6CSV

Family and domains

Sequence

MSLDFGSVALPVQNEDEEYDEEDYEREKELQQLLTDLPHDMLDDDLSSPELQYSDCSEDG
TDGQPHHPEQLEMSWNEQMLPKSQSVNGYNEIQSLYAGEKCGNVWEENRSKTEDRHPVYH
PEEGGDEGGSGYSPPSKCEQTDLYHLPENFRPYTNGQKQEFNNQATNVIKFSDPQWNHFQ
GPSCQGLEPYNKVTYKPYQSSAQNNGSPAQEITGSDTFEGLQQQFLGANENSAENMQIIQ
LQVLNKAKERQLENLIEKLNESERQIRYLNHQLVIIKDEKDGLTLSLRESQKLFQNGKER
EIQLEAQIKALETQIQALKVNEEQMIKKSRTTEMALESLKQQLVDLHHSESLQRAREQHE
SIVMGLTKKYEEQVLSLQKNLDATVTALKEQEDICSRLKDHVKQLERNQEAIKLEKTEII
NKLTRSLEESQKQCAHLLQSGSVQEVAQLQFQLQQAQKAHAMSANMNKALQEELTELKDE
ISLYESAAKLGIHPSDSEGELNIELTESYVDLGIKKVNWKKSKVTSIVQEEDPNEELSKD
EFILKLKAEVQRLLGSNSMKRHLVSQLQNDLKDCHKKIEDLHQVKKDEKSIEVETKTDTS
EKPKNQLWPESSTSDVVRDDILLLKNEIQVLQQQNQELKETEGKLRNTNQDLCNQMRQMV
QDFDHDKQEAVDRCERTYQQHHEAMKTQIRESLLAKHALEKQQLFEAYERTHLQLRSELD
KLNKEVTAVQECYLEVCREKDNLELTLRKTTEKEQQTQEKIKEKLIQQLEKEWQSKLDQT
IKAMKKKTLDCGSQTDQVTTSDVISKKEMAIMIEEQKCTIQQNLEQEKDIAIKGAMKKLE
IELELKHCENITKQVEIAVQNAHQRWLGELPELAEYQALVKAEQKKWEEQHEVSVNKRIS
FAVSEAKEKWKSELENMRKNILPGKELEEKIHSLQKELELKNEEVPVVIRAELAKARSEW
NKEKQEEIHRIQEQNEQDYRQFLDDHRNKINEVLAAAKEDFMKQKTELLLQKETELQTCL
DQSRREWTMQEAKRIQLEIYQYEEDILTVLGVLLSDTQKEHISDSEDKQLLEIMSTCSSK
WMSVQYFEKLKGCIQKAFQDTLPLLVENADPEWKKRNMAELSKDSASQGTGQGDPGPAAG
HHAQPLALQATEAEADKKKVLEIKDLCCGHCFQELEKAKQECQDLKGKLEKCCRHLQHLE
RKHKAVVEKIGEENNKVVEELIEENNDMKNKLEELQTLCKTPPRSLSAGAIENACLPCSG
GALEELRGQYIKAVKKIKCDMLRYIQESKERAAEMVKAEVLRERQETARKMRKYYLICLQ
QILQDDGKEGAEKKIMNAASKLATMAKLLETPISSKSQSKTTQSALPLTSEMLIAVKKSK
RNDVNQKIPCCIESKSNSVNTITRTLCEQAPKRRAACNLQRLLENSEHQSIKHVGSKETH
LEFQFGDGSCKHLNSLPRNVSPEFVPCEGEGGFGLHKKKDLLSDNGSESLPHSAAYPFLG
TLGNKPSPRCTPGPSESGCMHITFRDSNERLGLKVYKCNPLMESENAASEKSQGLDVQEP
PVKDGGDLSDCLGWPSSSATLSFDSREASFVHGRPQGTLEIPSESVKSKQFSPSGYLSDT
EESNMICQTMKCQRYQTPYLSEETTYLEPGKISVNCGHPSRHKADRLKSDFKKLSSTLPS
SVCQQPSRKLIVPLSSQQDSGFDSPFVNLD

Sequence length

1710

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microcephaly	microcephaly 9, primary, autosomal recessive	rs1555418825, rs754267846, rs267606717, rs1342429887, rs267606718, rs1567024512, rs587783423, rs587783421, rs587783414, rs869312853	N/A
Seckel Syndrome	seckel syndrome, seckel syndrome 5	rs1342429887, rs966888627, rs1349385657	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Insomnia	Insomnia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atrioventricular Septal Defect	Associate	25996639
Autosomal Recessive Primary Microcephaly	Associate	26297806
Diabetic Nephropathies	Stimulate	37916327
Microcephaly	Associate	21983783, 26297806
Neoplasms	Associate	24997597
Prostatic Neoplasms	Associate	22219177
Seckel syndrome 1	Associate	21131973

CEP152 (centrosomal protein 152)