CDK5RAP2 - CDK5 regulatory subunit associated protein 2 Gene

中文名称：CDK5 调节亚基相关蛋白 2

种属: Homo sapiens

同用名: C48; MCPH3; Cep215

基因 ID: 55755 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 CDK5 (细胞周期蛋白依赖性激酶 5) 活性的调节剂。由该基因编码的蛋白质定位于中心体和高尔基复合体，与 CDK5R1 和 pericentrin (PCNT) 相互作用，在中心粒结合和微管成核中发挥作用，并与原发性小头畸形和阿尔茨海默病有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 1 月]

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 基因产物(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 蛋白结构

Cnn_1N

0
300
600
900
1200
1500
1893 a.a.

蛋白主名

其他名称

CDK5 regulatory subunit-associated protein 2

CDK5 activator-binding protein C48

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS02390	CDK5RAP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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