AURKC

aurora kinase C

Basic information

Region (hg38): 19:57231009-57235548

Previous symbols: [ "STK13" ]

Links

ENSG00000105146 ∙ NCBI:6795 ∙ OMIM:603495 ∙ HGNC:11391 ∙ Uniprot:Q9UQB9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• spermatogenic failure 5 (Strong), mode of inheritance: AR
• spermatogenic failure 5 (Strong), mode of inheritance: AR
• spermatogenic failure 5 (Strong), mode of inheritance: AR
• spermatogenic failure 5 (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 5	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	17435757; 19147683; 21733974; 22888167

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AURKC gene.

• Infertility associated with multi-tailed spermatozoa and excessive DNA (2 variants)
• not provided (1 variants)
• Male infertility with spermatogenesis disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AURKC 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			4	2		6
missense			18	1		19
nonsense	1					1
start loss						0
frameshift	1	1				2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding			7	2	16	25
Total	2	1	29	5	16

Highest pathogenic variant AF is 0.000414

Variants in AURKC

This is a list of pathogenic ClinVar variants found in the AURKC region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-57231104-G-C		Infertility associated with multi-tailed spermatozoa and excessive DNA	Benign (Nov 10, 2018)
19-57231110-C-T		Infertility associated with multi-tailed spermatozoa and excessive DNA	Uncertain significance (Jan 12, 2018)
19-57231121-C-T		Infertility associated with multi-tailed spermatozoa and excessive DNA • not specified	Benign (Nov 10, 2018)
19-57231125-AGGACGAGCAGGATT-A			Benign (Jun 21, 2021)
19-57231146-G-GC		Spermatogenic Failure	Conflicting classifications of pathogenicity (Nov 10, 2018)
19-57231163-A-AC		Spermatogenic Failure	Likely benign (Jun 14, 2016)
19-57231165-C-T		Infertility associated with multi-tailed spermatozoa and excessive DNA	Uncertain significance (Jan 13, 2018)
19-57231196-A-C		Infertility associated with multi-tailed spermatozoa and excessive DNA	Uncertain significance (Jan 12, 2018)
19-57231211-G-T		Infertility associated with multi-tailed spermatozoa and excessive DNA	Uncertain significance (Jan 13, 2018)
19-57231259-C-G		Inborn genetic diseases	Uncertain significance (Jan 26, 2022)
19-57231259-C-T		Inborn genetic diseases	Uncertain significance (Oct 02, 2023)
19-57231260-C-G		Infertility associated with multi-tailed spermatozoa and excessive DNA	Uncertain significance (Jan 13, 2018)
19-57231261-A-G		Inborn genetic diseases	Uncertain significance (Jan 04, 2022)
19-57231300-G-GA			Likely pathogenic (Nov 01, 2021)
19-57231335-A-G			Benign (Nov 10, 2018)
19-57231671-T-C			Benign (Jun 18, 2021)
19-57231699-C-G			Benign (Jun 18, 2021)
19-57231747-A-G		Inborn genetic diseases	Likely benign (Oct 05, 2022)
19-57231755-C-A		Inborn genetic diseases	Uncertain significance (Nov 30, 2022)
19-57231759-A-ACAGCCCAG		Infertility associated with multi-tailed spermatozoa and excessive DNA • not specified	Conflicting classifications of pathogenicity (Nov 09, 2018)
19-57231778-G-T		Inborn genetic diseases	Uncertain significance (Apr 14, 2023)
19-57231966-C-T			Benign (Nov 10, 2018)
19-57232069-TC-T		Infertility associated with multi-tailed spermatozoa and excessive DNA	Pathogenic (Jan 11, 2016)
19-57232112-C-T		Infertility associated with multi-tailed spermatozoa and excessive DNA	Uncertain significance (Jan 13, 2018)
19-57232131-T-C		Inborn genetic diseases	Uncertain significance (Oct 05, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AURKC	protein_coding	protein_coding	ENST00000302804	7	4540

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0779	0.912	125614	0	133	125747	0.000529

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.502	153	172	0.892	0.0000105	1997
Missense in Polyphen		54	73.38	0.7359		888
Synonymous	-0.00864	67	66.9	1.00	0.00000350	623
Loss of Function	2.25	4	12.6	0.317	5.48e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000929	0.000929
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000862	0.000853
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• 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. Plays also a role in meiosis and more particularly in spermatogenesis. Has redundant cellular functions with AURKB and can rescue an AURKB knockdown. Like AURKB, AURKC phosphorylates histone H3 at 'Ser-10' and 'Ser-28'. AURKC phosphorylates the CPC complex subunits BIRC5/survivin and INCENP leading to increased AURKC activity. Phosphorylates TACC1, another protein involved in cell division, at 'Ser-228'. {ECO:0000269|PubMed:15316025, ECO:0000269|PubMed:15499654, ECO:0000269|PubMed:15670791, ECO:0000269|PubMed:15938719, ECO:0000269|PubMed:21493633, ECO:0000269|PubMed:21531210, ECO:0000269|PubMed:27332895}.
• Disease: DISEASE: Spermatogenic failure 5 (SPGF5) [MIM:243060]: An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome. {ECO:0000269|PubMed:17435757, ECO:0000269|PubMed:21733974}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Aurora C signaling;Aurora B signaling (Consensus)

Recessive Scores

• pRec: 0.0955

Intolerance Scores

• loftool: 0.907
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.58

Haploinsufficiency Scores

• pHI: 0.0730
• hipred: N
• hipred_score: 0.389
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.628

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Aurkc
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: protein phosphorylation;mitotic spindle organization;spermatogenesis;attachment of spindle microtubules to kinetochore;histone modification;regulation of cytokinesis;positive regulation of cytokinesis;histone-serine phosphorylation;oocyte development;mitotic spindle midzone assembly;cell division;meiotic cell cycle
• Cellular component: condensed nuclear chromosome, centromeric region;condensed chromosome;cytoplasm;spindle;spindle microtubule;midbody;spindle pole centrosome;chromosome passenger complex;spindle midzone
• Molecular function: protein kinase activity;protein serine/threonine/tyrosine kinase activity;protein binding;ATP binding;histone serine kinase activity