SGO2 (shugoshin 2)

Gene

• Entrez ID: 151246
• Gene name: Shugoshin 2
• Gene symbol: SGO2
• Synonyms (NCBI Gene): SGOL2, TRIPIN
• Chromosome: 2
• Chromosome location: 2q33.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519602	GA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT610813	hsa-miR-548ac	HITS-CLIP	23824327
MIRT610812	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT610811	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT610810	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT610809	hsa-miR-548z	HITS-CLIP	23824327
MIRT610808	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT610807	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT610813	hsa-miR-548ac	HITS-CLIP	23824327
MIRT610812	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT610811	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT610810	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT610809	hsa-miR-548z	HITS-CLIP	23824327
MIRT610808	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT610807	hsa-miR-335-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IDA	17485487
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IEA
GO:0005515	Function	Protein binding	IPI	16541025, 17485487, 20739936, 21666598, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007059	Process	Chromosome segregation	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030892	Component	Mitotic cohesin complex	IDA	18084284
GO:0051177	Process	Meiotic sister chromatid cohesion	IBA
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA

Other IDs

• MIM: 612425
• HGNC: 30812
• e!Ensembl: ENSG00000163535

Protein

• UniProt ID: Q562F6
• Protein name: Shugoshin 2 (Shugoshin-2) (Shugoshin-like 2) (Tripin)
• Protein function: Cooperates with PPP2CA to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I. Has a crucial role in protecting REC8 at centromeres from cleavage by separase. During meiosis, protects centromeric
• Sequence:

  MECPVMETGSLFTSGIKRHLKDKRISKTTKLNVSLASKIKTKILNNSSIFKISLKHNNRA
  LAQALSREKENSRRITTEKMLLQKEVEKLNFENTFLRLKLNNLNKKLIDIEALMNNNLIT
  AIEMSSLSEFHQSSFLLSASKKKRISKQCKLMRLPFARVPLTSNDDEDEDKEKMQCDNNI
  KSKTLPDIPSSGSTTQPLSTQDNSEVLFLKENNQNVYGLDDSEHISSIVDVPPRESHSHS
  DQSSKTSLMSEMRNAQSIGRRWEKPSPSNVTERKKRGSSWESNNLSADTPCATVLDKQHI
  SSPELNCNNEINGHTNETNTEMQRNKQDLPGLSSESAREPNAECMNQIEDNDDFQLQKTV
  YDADMDLTASEVSKIVTVSTGIKKKSNKKTNEHGMKTFRKVKDSSSEKKRERSKRQFKNS
  SDVDIGEKIENRTERSDVLDGKRGAEDPGFIFNNEQLAQMNEQLAQVNELKKMTLQTGFE
  QGDRENVLCNKKEKRITNEQEETYSLSQSSGKFHQESKFDKGQNSLTCNKSKASRQTFVI
  HKLEKDNLLPNQKDKVTIYENLDVTNEFHTANLSTKDNGNLCDYGTHNILDLKKYVTDIQ
  PSEQNESNINKLRKKVNRKTEIISGMNHMYEDNDKDVVHGLKKGNFFFKTQEDKEPISEN
  IEVSKELQIPALSTRDNENQCDYRTQNVLGLQKQITNMYPVQQNESKVNKKLRQKVNRKT
  EIISEVNHLDNDKSIEYTVKSHSLFLTQKDKEIIPGNLEDPSEFETPALSTKDSGNLYDS
  EIQNVLGVKHGHDMQPACQNDSKIGKKPRLNVCQKSEIIPETNQIYENDNKGVHDLEKDN
  FFSLTPKDKETISENLQVTNEFQTVDLLIKDNGNLCDYDTQNILELKKYVTDRKSAEQNE
  SKINKLRNKVNWKTEIISEMNQIYEDNDKDAHVQESYTKDLDFKVNKSKQKLECQDIINK
  HYMEVNSNEKESCDQILDSYKVVKKRKKESSCKAKNILTKAKNKLASQLTESSQTSISLE
  SDLKHITSEADSDPGNPVELCKTQKQSTTTLNKKDLPFVEEIKEGECQVKKVNKMTSKSK
  KRKTSIDPSPESHEVMERILDSVQGKSTVSEQADKENNLENEKMVKNKPDFYTKAFRSLS
  EIHSPNIQDSSFDSVREGLVPLSVSSGKNVIIKENFALECSPAFQVSDDEHEKMNKMKFK
  VNRRTQKSGIGDRPLQDLSNTSFVSNNTAESENKSEDLSSERTSRRRRCTPFYFKEPSLR
  DKMRR

• Sequence length: 1265

Pathways

Reactome:

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation

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
Premature ovarian failure	Pathogenic	rs1057519602	RCV000417157	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GONADAL DYSGENESIS XX TYPE DEAFNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32923148	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39344317	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32275843	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34200261	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34545296	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34535705	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	BEFREE	27629923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis XX type deafness	Gonadal Dysgenesis	GENOMICS_ENGLAND_DG	27629923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	BEFREE	27629923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36566018	Associate	★☆☆☆☆ Found in Text Mining only