AURKB
aurora kinase B, the group of Chromosomal passenger complex|Protein phosphatase 1 regulatory subunits
Basic information
Region (hg38): 17:8204733-8210600
Previous symbols: [ "STK12" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AURKB gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 14 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 2 | 1 |
Variants in AURKB
This is a list of pathogenic ClinVar variants found in the AURKB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 17-8204945-C-A | not specified | Uncertain significance (Dec 30, 2023) | ||
| 17-8204967-C-T | AURKB-related disorder | Likely benign (May 27, 2023) | ||
| 17-8204979-C-G | not specified | Uncertain significance (Dec 09, 2023) | ||
| 17-8205020-C-T | not specified | Uncertain significance (Jun 06, 2023) | ||
| 17-8205230-G-A | NK-cell enteropathy | Likely pathogenic (Jul 31, 2019) | ||
| 17-8205240-G-A | Likely benign (Aug 16, 2018) | |||
| 17-8205241-T-C | not specified | Uncertain significance (Mar 16, 2024) | ||
| 17-8205335-G-A | not specified | Uncertain significance (Nov 14, 2023) | ||
| 17-8206543-C-G | Benign/Likely benign (Oct 26, 2018) | |||
| 17-8206596-T-C | not specified | Uncertain significance (Dec 19, 2023) | ||
| 17-8206624-C-A | not specified | Uncertain significance (Dec 11, 2023) | ||
| 17-8206812-G-A | not specified | Uncertain significance (May 09, 2022) | ||
| 17-8207260-A-G | not specified | Uncertain significance (Jun 29, 2022) | ||
| 17-8207281-T-C | not specified | Uncertain significance (Apr 15, 2024) | ||
| 17-8207291-G-C | not specified | Uncertain significance (Dec 14, 2021) | ||
| 17-8207579-G-T | not specified | Uncertain significance (Jan 24, 2024) | ||
| 17-8207608-C-G | not specified | Uncertain significance (Dec 13, 2023) | ||
| 17-8207759-G-A | not specified | Uncertain significance (May 27, 2022) | ||
| 17-8207763-C-T | not specified | Uncertain significance (Jun 29, 2023) | ||
| 17-8207815-G-A | Uncertain significance (Oct 26, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AURKB | protein_coding | protein_coding | ENST00000585124 | 8 | 5863 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00445 | 0.989 | 125697 | 0 | 50 | 125747 | 0.000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.739 | 183 | 213 | 0.858 | 0.0000132 | 2220 |
| Missense in Polyphen | 48 | 77.106 | 0.62252 | 901 | ||
| Synonymous | 0.259 | 80 | 83.0 | 0.964 | 0.00000481 | 684 |
| Loss of Function | 2.40 | 7 | 18.0 | 0.390 | 0.00000103 | 198 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000399 | 0.000396 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.000336 | 0.000334 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis. Required for central/midzone spindle assembly and cleavage furrow formation. Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: phosphorylates CHMP4C, leading to retain abscission- competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis (PubMed:22422861, PubMed:24814515). AURKB phosphorylates the CPC complex subunits BIRC5/survivin, CDCA8/borealin and INCENP. Phosphorylation of INCENP leads to increased AURKB activity. Other known AURKB substrates involved in centromeric functions and mitosis are CENPA, DES/desmin, GPAF, KIF2C, NSUN2, RACGAP1, SEPT1, VIM/vimentin, HASPIN, and histone H3. A positive feedback loop involving HASPIN and AURKB contributes to localization of CPC to centromeres. Phosphorylation of VIM controls vimentin filament segregation in cytokinetic process, whereas histone H3 is phosphorylated at 'Ser-10' and 'Ser-28' during mitosis (H3S10ph and H3S28ph, respectively). A positive feedback between HASPIN and AURKB contributes to CPC localization. AURKB is also required for kinetochore localization of BUB1 and SGO1. Phosphorylation of p53/TP53 negatively regulates its transcriptional activity. Key regulator of active promoters in resting B- and T-lymphocytes: acts by mediating phosphorylation of H3S28ph at active promoters in resting B-cells, inhibiting RNF2/RING1B-mediated ubiquitination of histone H2A and enhancing binding and activity of the USP16 deubiquitinase at transcribed genes. {ECO:0000269|PubMed:11516652, ECO:0000269|PubMed:11756469, ECO:0000269|PubMed:11784863, ECO:0000269|PubMed:11856369, ECO:0000269|PubMed:12458200, ECO:0000269|PubMed:12686604, ECO:0000269|PubMed:12689593, ECO:0000269|PubMed:12925766, ECO:0000269|PubMed:14602875, ECO:0000269|PubMed:14610074, ECO:0000269|PubMed:14722118, ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:15249581, ECO:0000269|PubMed:16103226, ECO:0000269|PubMed:17617734, ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:21658950, ECO:0000269|PubMed:22422861, ECO:0000269|PubMed:24814515}.;
- Disease
- DISEASE: Note=Disruptive regulation of expression is a possible mechanism of the perturbation of chromosomal integrity in cancer cells through its dominant-negative effect on cytokinesis.;
- Pathway
- miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;Regulation of Microtubule Cytoskeleton;ATM Signaling Network in Development and Disease;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;Aurora A signaling;RHO GTPase Effectors;Signaling by Rho GTPases;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Aurora C signaling;Aurora B signaling;FOXM1 transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.208
Intolerance Scores
- loftool
- 0.635
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.91
Haploinsufficiency Scores
- pHI
- 0.842
- hipred
- Y
- hipred_score
- 0.740
- ghis
- 0.675
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.644
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aurkb
- Phenotype
- cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; neoplasm; embryo phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype;
Zebrafish Information Network
- Gene name
- aurkb
- Affected structure
- cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased mass density
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;negative regulation of B cell apoptotic process;protein phosphorylation;spindle organization;mitotic spindle organization;mitotic spindle assembly checkpoint;aging;cell population proliferation;attachment of spindle microtubules to kinetochore;abscission;histone modification;anaphase-promoting complex-dependent catabolic process;negative regulation of protein binding;positive regulation of telomere maintenance via telomerase;regulation of cytokinesis;negative regulation of cytokinesis;positive regulation of cytokinesis;protein localization to kinetochore;cellular response to UV;cleavage furrow formation;histone H3-S28 phosphorylation;mitotic cytokinesis checkpoint;protein autophosphorylation;mitotic spindle midzone assembly;positive regulation of telomerase activity;regulation of chromosome segregation;regulation of signal transduction by p53 class mediator;positive regulation of telomere capping
- Cellular component
- kinetochore;condensed chromosome, centromeric region;condensed nuclear chromosome, centromeric region;nucleus;nucleoplasm;spindle;cytosol;spindle microtubule;chromocenter;midbody;spindle pole centrosome;chromosome passenger complex;spindle midzone;mitotic spindle midzone
- Molecular function
- protein serine/threonine kinase activity;protein serine/threonine/tyrosine kinase activity;protein binding;ATP binding;kinase binding;histone serine kinase activity;metal ion binding