GeneBe

AURKA

protein-coding

aurora kinase A, the group of Protein phosphatase 1 regulatory subunits

Gene summary

The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Previous symbols:
  • STK15
  • STK6

MANE transcript

NM_198437.3

Inheritance

AD

ClinVar variants

P:1U:35B:5

Top phenotype

AURKA-related disorder

gnomAD constraint

pLI —, LoF o/e 0.15

Max pathogenic AF

—

Genomic locus

chr20:56,369,389-56,392,337

External References & Databases

Ensembl (ENSG00000087586)NCBI Gene (6790)OMIM (603072)HGNC:11393GenCCUniProt (O14965)AlphaFoldClinVar (AURKA)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~22.9 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

breast cancerLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0007254

Submitter: Ambry Genetics

intellectual disabilityLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0001071

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AURKA variants in ClinVar

5 Conditions Cataloged
not specifiedTotal: 27
AURKA-related disorderTotal: 2
Colorectal cancerTotal: 2
not providedTotal: 1
Multiple myelomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198437.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
1
clinvar
30
clinvar
4
clinvar
 35
nonsense
0
start loss
1
clinvar
 1
frameshift
0
splice donor/acceptor (+/-2bp)
3
clinvar
 3
Total01354141
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 114 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_198437.3RefSeqNP_940839.18MANE Select
ENST00000395915.8EnsemblENSP00000379251.38MANE Select
NM_001323303.2RefSeqNP_001310232.18Standard
NM_001323304.2RefSeqNP_001310233.18Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
aurkaDanio rerio

Structure: cell

Quality: disorganized

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Oocyte meiosis - Homo sapiens (human)
  • Progesterone-mediated oocyte maturation - Homo sapiens (human)
  • Integrated Breast Cancer Pathway
  • Gastric Cancer Network 1
  • JAK-STAT

Biological Process

  • G2/M transition of mitotic cell cycle
  • mitotic cell cycle
  • protein phosphorylation
  • DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
  • spindle organization

Molecular Function

  • protein kinase activity
  • protein serine/threonine kinase activity
  • protein serine/threonine/tyrosine kinase activity
  • protein binding
  • ATP binding

Cellular Component

  • condensed nuclear chromosome, centromeric region
  • nucleus
  • nucleoplasm
  • centrosome
  • centriole

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000395909
Coding exons
8
Length
22949
Individuals with no LoFs
125734
Homozygous LoFs
0
Heterozygous LoFs
14
Defined
125748
p
0.0000557
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.591402040.6860.00001062596
Missense (PolyPhen)3076.2180.393611030
Synonymous-1.468973.21.220.00000355776
Loss of Function3.50319.80.1519.33e-7257

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000120.00012rare
Latino/Admixed American0.0000290.000029rare
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish0.0000460.000046rare
European (Non-Finnish)0.0000260.000026rare
South Asian0.000200.00020rare
Other0.000160.00016rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression. Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis. Required for initial activation of CDK1 at centrosomes. Phosphorylates numerous target proteins, including ARHGEF2, BORA, BRCA1, CDC25B, DLGP5, HDAC6, KIF2A, LATS2, NDEL1, PARD3, PPP1R2, PLK1, RASSF1, TACC3, p53/TP53 and TPX2. Regulates KIF2A tubulin depolymerase activity. Required for normal axon formation. Plays a role in microtubule remodeling during neurite extension. Important for microtubule formation and/or stabilization. Also acts as a key regulatory component of the p53/TP53 pathway, and particularly the checkpoint-response pathways critical for oncogenic transformation of cells, by phosphorylating and stabilizing p53/TP53. Phosphorylates its own inhibitors, the protein phosphatase type 1 (PP1) isoforms, to inhibit their activity. Necessary for proper cilia disassembly prior to mitosis. {ECO:0000269|PubMed:11039908, ECO:0000269|PubMed:11551964, ECO:0000269|PubMed:12390251, ECO:0000269|PubMed:13678582, ECO:0000269|PubMed:14523000, ECO:0000269|PubMed:14702041, ECO:0000269|PubMed:14990569, ECO:0000269|PubMed:15128871, ECO:0000269|PubMed:15147269, ECO:0000269|PubMed:15987997, ECO:0000269|PubMed:17125279, ECO:0000269|PubMed:17360485, ECO:0000269|PubMed:17604723, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:18615013, ECO:0000269|PubMed:19351716, ECO:0000269|PubMed:19357306, ECO:0000269|PubMed:19668197, ECO:0000269|PubMed:19812038, ECO:0000269|PubMed:20643351, ECO:0000269|PubMed:9606188}.;

Recessive Scores

pRec
0.229

Intolerance Scores

LoFtool
0.674
RVIS EVS
0.9
RVIS percentile EVS
89.39

Essentials

Essential (CRISPR)
E
Essential (CRISPR2)
N
Essential (gene trap)
E
Indispensability pred.
E
Indispensability score
0.923

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
Feedback | API | Annotate VCF | Sitemap | About | Privacy & Terms
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.