AURKC (aurora kinase C)

Gene

• Entrez ID: 6795
• Gene name: Aurora kinase C
• Gene symbol: AURKC
• Synonyms (NCBI Gene): AIE2, AIK3, ARK3, AurC, HEL-S-90, SPGF5, STK13, aurora-C
• Chromosome: 19
• Chromosome location: 19q13.43
• Summary: This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74179426	->C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, intron variant
rs121908654	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs397515484	A>G	Pathogenic	Splice acceptor variant
rs397515619	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT812205	hsa-miR-125a-5p	CLIP-seq
MIRT812206	hsa-miR-125b	CLIP-seq
MIRT812207	hsa-miR-4319	CLIP-seq
MIRT812208	hsa-miR-4732-3p	CLIP-seq
MIRT812209	hsa-miR-4768-3p	CLIP-seq
MIRT812210	hsa-miR-665	CLIP-seq
MIRT812211	hsa-miR-670	CLIP-seq
MIRT812205	hsa-miR-125a-5p	CLIP-seq
MIRT812206	hsa-miR-125b	CLIP-seq
MIRT812207	hsa-miR-4319	CLIP-seq
MIRT812208	hsa-miR-4732-3p	CLIP-seq
MIRT812211	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000793	Component	Condensed chromosome	IDA	15670791
GO:0000922	Component	Spindle pole	IBA
GO:0004672	Function	Protein kinase activity	IDA	15670791
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	TAS	19774610
GO:0005515	Function	Protein binding	IPI	21988832, 27332895, 32296183, 32707033, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005819	Component	Spindle	IEA
GO:0005819	Component	Spindle	TAS	19774610
GO:0005856	Component	Cytoskeleton	IEA
GO:0005876	Component	Spindle microtubule	IBA
GO:0006468	Process	Protein phosphorylation	IDA	15670791
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	TAS	19774610
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	15670791
GO:0030496	Component	Midbody	TAS	19774610
GO:0032133	Component	Chromosome passenger complex	IBA
GO:0032133	Component	Chromosome passenger complex	TAS	19774610
GO:0032465	Process	Regulation of cytokinesis	IBA
GO:0032467	Process	Positive regulation of cytokinesis	TAS	19774610
GO:0051233	Component	Spindle midzone	IBA
GO:0051233	Component	Spindle midzone	IDA	15670791
GO:0051256	Process	Mitotic spindle midzone assembly	TAS	19774610
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 603495
• HGNC: 11391
• e!Ensembl: ENSG00000105146

Protein

• UniProt ID: Q9UQB9
• Protein name: Aurora kinase C (EC 2.7.11.1) (Aurora 3) (Aurora/IPL1-related kinase 3) (ARK-3) (Aurora-related kinase 3) (Aurora/IPL1/Eg2 protein 2) (Serine/threonine-protein kinase 13) (Serine/threonine-protein kinase aurora-C)
• Protein 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 segre
• PDB: 6GR8, 6GR9, 9ESA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	43 → 293	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in testis. Elevated expression levels were seen only in a subset of cancer cell lines such as Hep-G2, Huh-7 and HeLa. Expression is maximum at M phase. {ECO:0000269|PubMed:15670791}.
• Sequence:

  MSSPRAVVQLGKAQPAGEELATANQTAQQPSSPAMRRLTVDDFEIGRPLGKGKFGNVYLA
  RLKESHFIVALKVLFKSQIEKEGLEHQLRREIEIQAHLQHPNILRLYNYFHDARRVYLIL
  EYAPRGELYKELQKSEKLDEQRTATIIEELADALTYCHDKKVIHRDIKPENLLLGFRGEV
  KIADFGWSVHTPSLRRKTMCGTLDYLPPEMIEGRTYDEKVDLWCIGVLCYELLVGYPPFE
  SASHSETYRRILKVDVRFPLSMPLGARDLISRLLRYQPLERLPLAQILKHPWVQAHSRRV
  LPPCAQMAS

• Sequence length: 309

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Infertility associated with multi-tailed spermatozoa and excessive DNA	Pathogenic; Likely pathogenic	rs55658999, rs397515619, rs121908654, rs397515484	RCV002286429 RCV000006686 RCV000006687 RCV000056325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with spermatogenesis disorder	Pathogenic	rs55658999	RCV001449804	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AURKC-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO LARGE-HEADED MULTIFLAGELLAR POLYPLOID SPERMATOZOA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spermatogenic Failure	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE 5	—	GenCC, HPO GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	25994570		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25994570, 29050234		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25994570	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25990457	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21710690		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	25994570		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34465813	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	25219909, 26341096	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	24484996, 25219909, 30594972	Associate	★☆☆☆☆ Found in Text Mining only
Male infertility due to large-headed multiflagellar polyploid spermatozoa	Male infertility	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa	Infertility associated with multi-tailed spermatozoa and excessive DNA	ORPHANET_DG	17435757, 21733974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa	Infertility associated with multi-tailed spermatozoa and excessive DNA	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa	Infertility associated with multi-tailed spermatozoa and excessive DNA	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	25994570, 29050234		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27270838, 28843004, 31521144		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21710690, 25990457		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25994570		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22046298, 22443468, 25994570		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23075505	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27270838, 28843004, 31521144		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27270838, 31521144	Associate	★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	BEFREE	25219909, 27779748		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	Pubtator	25219909	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28930610	Associate	★☆☆☆☆ Found in Text Mining only