CDK5RAP2 - CDK5 regulatory subunit associated protein 2 Gene

Also Known as C48; MCPH3; Cep215

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55755

About CDK5RAP2

Cytogenetic location: 9q33.2 Genomic coordinates (GRCh38): 9:120,388,875-120,580,167 (from NCBI)

This gene has 44 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 15.8), bone marrow (RPKM 9.3) and 25 other tissues.

Summary

This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

CDK5RAP2 Products (6)

mRNA	Protein	Name
NM_001011649.3	NP_001011649.1	CDK5 regulatory subunit-associated protein 2 isoform b
NM_001272039.2	NP_001258968.1	CDK5 regulatory subunit-associated protein 2 isoform c
NM_001410992.1	NP_001397921.1	CDK5 regulatory subunit-associated protein 2 isoform d
NM_001410993.1	NP_001397922.1	CDK5 regulatory subunit-associated protein 2 isoform e
NM_001410994.1	NP_001397923.1	CDK5 regulatory subunit-associated protein 2 isoform f
NM_018249.6	NP_060719.4	CDK5 regulatory subunit-associated protein 2 isoform a

CDK5RAP2 Protein Structure

Cnn_1N

0
300
600
900
1200
1500
1800
1893 a.a.

Protein Preferred Names	Protein Names
CDK5 regulatory subunit-associated protein 2	CDK5 activator-binding protein C48

CDK5RAP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CDK5RAP2	Q96SN8	LRRK1	Homo sapiens	Q38SD2-1	Anti Tag CoIP	26192437
Intra	CDK5RAP2	Q96SN8	SPAG5	Homo sapiens	Q96R06	Anti Bait CoIP	26297806
Intra	CDK5RAP2	Q96SN8	RELA	Homo sapiens	Q04206	Anti Bait CoIP	35709258
Intra	CDK5RAP2	Q96SN8	CEP72	Homo sapiens	Q9P209	Anti Bait CoIP	26297806
Intra	CDK5RAP2	Q96SN8	CEP68	Homo sapiens	Q76N32	Anti Bait CoIP	35709258

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Microcephaly 3, Primary, Autosomal Recessive	MCPH3 Primary Autosomal Recessive Microcephaly 3 Microcephaly, Primary Autosomal Recessive, 3
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Corpus Callosum, Agenesis Of	Corpus Callosum Agenesis Agenesis Of The Corpus Callosum Isolated Corpus Callosum Agenesis Acc Non Rare In Europe: Isolated Corpus Callosum Agenesis Congenital Malformation Of Corpus Callosum Deformity Of Corpus Callosum Absence Of Corpus Callosum Absent Corpus Callosum Acc - [Agenesis Of Corpus Callosum] Aplasia Of Corpus Callosum Congenital Absence Of Corpus Callosum Hypoplastic Corpus Callosum Hypoplasia Of Corpus Callosum
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag	Da Silva Syndrome Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
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
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	ICF2 Icf Syndrome 2 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, Type 2
Microcephaly 17, Primary, Autosomal Recessive	MCPH17 Primary Autosomal Recessive Microcephaly 17
Microcephaly 9, Primary, Autosomal Recessive	MCPH9 Primary Autosomal Recessive Microcephaly 9 Microcephaly, Type 9, Primary, Autosomal Recessive
Seckel Syndrome 4	SCKL4 Seckel Syndrome, Type 4
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
Non-Syndromic X-Linked Intellectual Disability Arx-Related	Arx-Related Intellectual Disability Mrxarx X-Linked Mental Retardation 29 X-Linked Mental Retardation 29 And Others X-Linked Mental Retardation 32 X-Linked Mental Retardation 33 X-Linked Mental Retardation 38 X-Linked Mental Retardation 43 X-Linked Mental Retardation 76 X-Linked Mental Retardation 87 X-Linked Mental Retardation With Or Without Seizures Arx-Related Mental Retardation, X-Linked, Type 29 And Others
Microcephaly 12, Primary, Autosomal Recessive	MCPH12 Primary Autosomal Recessive Microcephaly 12 Microcephaly, Type 12, Primary, Autosomal Recessive
Microcephaly 14, Primary, Autosomal Recessive	MCPH14 Primary Autosomal Recessive Microcephaly 14 Microcephaly, Type 14, Primary, Autosomal Recessive
Microcephaly 13, Primary, Autosomal Recessive	MCPH13 Primary Autosomal Recessive Microcephaly 13 Microcephaly, Type 13, Primary, Autosomal Recessive
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
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
Zika Virus Congenital Syndrome	Zikv Congenital Infection
Microlissencephaly
Microcephaly, Autosomal Dominant	Autosomal Dominant Microcephaly Microcephaly Autosomal Dominant Autosomal Dominant Primary Microcephaly Microcephaly With Autosomal Dominant Inheritance
Seckel Syndrome 2	SCKL2 Seckel-Type Dwarfism 2 Microcephalic Primordial Dwarfism 2 Bird-Headed Dwarfism 2 Seckel Syndrome, Type 2
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
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
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
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Physical Disorder	Physical Illness
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
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

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.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS02390	CDK5RAP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CDK5RAP2	VGNC	VGNC:71014
Bos taurus	CDK5RAP2	VGNC	VGNC:27131
Mus musculus	CDK5RAP2	MGD	MGI:2384875
Canis familiaris	CDK5RAP2	VGNC	VGNC:39058
Felis catus	CDK5RAP2	VGNC	VGNC:60703
Rattus norvegicus	CDK5RAP2	RGD	RGD:708451
Others	CDK5RAP2	NCBI