CEP152 - centrosomal protein 152 Gene

Also Known as MCPH4; MCPH9; SCKL5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 22995

About CEP152

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:48,729,083-48,811,069 (from NCBI)

This gene has 10 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 2.6), bone marrow (RPKM 2.5) and 23 other tissues.

Summary

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]

CEP152 Products (2)

mRNA	Protein	Name
NM_001194998.2	NP_001181927.1	centrosomal protein of 152 kDa isoform 1
NM_014985.4	NP_055800.2	centrosomal protein of 152 kDa isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20852615	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	20852615	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in centriole replication	IDA IDA: Inferred from direct assay	21059844	GOA
involved in centrosome duplication	IMP IMP: Inferred from mutant phenotype	20852615	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in centriole	IDA IDA: Inferred from direct assay	22020124	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21131973	GOA
located in pericentriolar material	IDA IDA: Inferred from direct assay	26337392	GOA
located in procentriole	IDA IDA: Inferred from direct assay	24997597	GOA
part of procentriole replication complex	IPI IPI: Inferred from physical interaction	24997597	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
centrosomal protein of 152 kDa	asterless

CEP152 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CEP152	O94986	MOV10	Homo sapiens	Q9HCE1	Anti Bait CoIP	35709258
Intra	CEP152	O94986	CEP131	Homo sapiens	Q9UPN4	Anti Bait CoIP	26297806
Intra	CEP152	O94986	PLK4	Homo sapiens	O00444	BioID	26638075
Intra	CEP152	O94986	PLK4	Homo sapiens	O00444	Pull Down	21059844

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Microcephaly 9, Primary, Autosomal Recessive	MCPH9 Primary Autosomal Recessive Microcephaly 9 Microcephaly, Type 9, Primary, Autosomal Recessive
Seckel Syndrome 5	SCKL5 Seckel Syndrome, Type 5
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Seckel Syndrome 1	SCKL1 Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Seckel-Type Dwarfism Bird-Headed Dwarfism Sckl Seckel Syndrome, Type 1 Seckel Syndrome
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Microcephaly 14, Primary, Autosomal Recessive	MCPH14 Primary Autosomal Recessive Microcephaly 14 Microcephaly, Type 14, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive	MCPH17 Primary Autosomal Recessive Microcephaly 17
Seckel Syndrome 8	SCKL8 Seckel Syndrome, Type 8
Seckel Syndrome 6	SCKL6 Seckel Syndrome, Type 6
Seckel Syndrome 2	SCKL2 Seckel-Type Dwarfism 2 Microcephalic Primordial Dwarfism 2 Bird-Headed Dwarfism 2 Seckel Syndrome, Type 2
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microcephalic Osteodysplastic Primordial Dwarfism Type Ii Majewski Osteodysplastic Primordial Dwarfism Type Ii MOPD2 Mopd Ii Osteodysplastic Primordial Dwarfism Type Ii Mopdii Osteodysplastic Primordial Dwarfism Type 2 Osteodysplastic Primordial Dwarfism, Type Ii Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Mopd 2 Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Mopd Type Ii Microcephalic Osteodysplastic Primordial Dwarfism 2 Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
Generalized Epilepsy With Febrile Seizures Plus, Type 9	GEFSP9 Gefs+9 Generalized Epilepsy With Febrile Seizures Plus 9 Gefs+, Type 9 Generalised Epilepsy With Febrile Seizures Plus 9 Generalised Epilepsy With Febrile Seizures Plus Type 9 Generalized Epilepsy With Febrile Seizures Plus Type 9 Gefs+ Type 9 Epilepsy, Generalized, With Febrile Seizures Plus, Type 9
Microcephaly 13, Primary, Autosomal Recessive	MCPH13 Primary Autosomal Recessive Microcephaly 13 Microcephaly, Type 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive	MCPH12 Primary Autosomal Recessive Microcephaly 12 Microcephaly, Type 12, Primary, Autosomal Recessive
Microcephaly 5, Primary, Autosomal Recessive	MCPH5 Primary Autosomal Recessive Microcephaly 5 Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern Microcephaly, Primary Autosomal Recessive, 5
Microcephaly 10, Primary, Autosomal Recessive	MCPH10 Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Primary Autosomal Recessive Microcephaly 10 Microcephalic Primordial Dwarfism, Walsh Type Microcephaly, Type 10, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant	MCPH18 Primary Autosomal Dominant Microcephaly 18
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Microcephaly 15, Primary, Autosomal Recessive NEDMISBA Mcph15 Primary Autosomal Recessive Microcephaly 15 Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Microcephaly 16, Primary, Autosomal Recessive	MCPH16 Primary Autosomal Recessive Microcephaly 16
Autosomal Dominant Intellectual Developmental Disorder 40	Autosomal Dominant Non-Syndromic Intellectual Disability 40 Autosomal Dominant Mental Retardation 40 Mrd40 Mental Retardation, Autosomal Dominant 40
Myopathy, Congenital, Compton-North	Compton-North Congenital Myopathy MYPCN Congenital Lethal Myopathy, Compton-North Type
Microcephaly 19, Primary, Autosomal Recessive	MCPH19 Primary Autosomal Recessive Microcephaly 19 Microcephaly, Type 19, Primary, Autosomal Recessive
Precocious Puberty, Central, 2	CPPB2 Central Precocious Puberty 2 Precocious Puberty, Central 2 Precocious Puberty, Central, Type 2
Microcephaly 6, Primary, Autosomal Recessive	MCPH6 Primary Autosomal Recessive Microcephaly 6 Microcephaly, Primary Autosomal Recessive, 6 Microcephaly, Type 6, Primary, Autosomal Recessive
Microcephaly, Autosomal Dominant	Autosomal Dominant Microcephaly Microcephaly Autosomal Dominant Autosomal Dominant Primary Microcephaly Microcephaly With Autosomal Dominant Inheritance
Isolated Growth Hormone Deficiency	Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Pituitary Dwarfism Dwarfism, Pituitary Isolated Somatotropin Deficiency Isolated Congenital Growth Hormone Deficiency Familial Isolated Growth Hormone Deficiency Ighd Dwarfism, Growth Hormone Deficiency Growth Hormone Deficiency Dwarfism Isolated Gh Deficiency Isolated Hgh Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Disorder Dwarfism Pituitary
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Microlissencephaly
Lissencephaly 2	Norman-Roberts Syndrome Lissencephaly Syndrome, Norman-Roberts Type LIS2 Lissencephaly With Cerebellar Hypoplasia Lch Lissencephaly Syndrome Norman-Roberts Type Norman Roberts Lissencephaly Syndrome Lissencephaly 3 Lis3 Microlissencephaly Type A Norman-Roberts Lissencephaly Syndrome Lissencephaly, Type 2 Cobblestone Lissencephaly
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Physical Disorder	Physical Illness
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02502	CEP152 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CEP152	RGD	RGD:1305348
Felis catus	CEP152	VGNC	VGNC:82410
Canis familiaris	CEP152	VGNC	VGNC:39119
Mus musculus	CEP152	MGD	MGI:2139083
Macaca mulatta	CEP152	VGNC	VGNC:71133
Bos taurus	CEP152	VGNC	VGNC:27194
Others	CEP152	NCBI