1. Gene
  2. PLK4 - polo like kinase 4 Gene

PLK4 - polo like kinase 4 Gene

Homo sapiens

Also known as SAK; STK18; MCCRP2

Gene ID: 10733 | Gene type: protein coding

About PLK4

Cytogenetic location: 4q28.1 Genomic coordinates (GRCh38): 4:127,880,893-127,899,224 (from NCBI)

This gene has 11 transcripts (splice variants), 210 orthologues, 4 paralogues and is associated with 5 phenotypes. Biased expression in testis (RPKM 12.2), bone marrow (RPKM 8.2) and 12 other tissues.

Summary

This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

PLK4 Products(6)

mRNA Protein Name
NM_001190799.2 NP_001177728.1 serine/threonine-protein kinase PLK4 isoform 2
NM_014264.5 NP_055079.3 serine/threonine-protein kinase PLK4 isoform 1
XM_017007662.2 XP_016863151.1 serine/threonine-protein kinase PLK4 isoform X1
XM_017007663.3 XP_016863152.1 serine/threonine-protein kinase PLK4 isoform X2
XM_005262701.4 XP_005262758.1 serine/threonine-protein kinase PLK4 isoform X3
NM_001190801.2 NP_001177730.1 serine/threonine-protein kinase PLK4 isoform 3

PLK4 Protein Structure

Pkinase

Pkinase: Protein kinase domain (13 - 265)

POLO_box

POLO_box: POLO box duplicated region (893 - 955)

  • 0
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  • 800
  • 970 a.a.
Protein Preferred Names Protein Names

serine/threonine-protein kinase PLK4

Snk akin kinase

serine/threonine-protein kinase 18

serine/threonine-protein kinase Sak

Related Diseases

Diseases Alias
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2

MCCRP2

Microcephaly And Chorioretinopathy, Autosomal Recessive, Type 2

Microcephaly And Chorioretinopathy 2
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

Mosaic Variegated Aneuploidy Syndrome

Warburton-Anyane-Yeboa Syndrome

Mva Syndrome

Mosaic Variegated Aneuplody Microcephaly Syndrome

Warburton Anyane Yeboa Syndrome

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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

Isolated Growth Hormone Deficiency Type Ia

Primordial Dwarfism

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

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

Autosomal Recessive Chorioretinopathy-Microcephaly-Intellectual Disability Syndrome

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Spermatogenic Failure 10

SPGF10

Spermatogenic Failure With Defective Sperm Annulus

Spermatogenic Failure, Type 10

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 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

Orthologs Information

Species Symbol Source ID
Felis catus PLK4 VGNC VGNC:64246
Canis familiaris PLK4 VGNC VGNC:44698
Bos taurus PLK4 VGNC VGNC:33036
Macaca mulatta PLK4 VGNC VGNC:76019
Mus musculus PLK4 MGD MGI:101783
Rattus norvegicus PLK4 RGD RGD:1305390