SGO2 (shugoshin 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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 Show/Hide all (14)

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) Show/Hide all (15)

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 Pathway

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	Reference	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	27629923	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ERAL1 2 shared diseasesGonadal dysgenesis, Perrault syndrome 2 shared evidence sourcesDisgenet (Gonadal dysgenesis), GWAS catalog (Perrault syndrome) Related via 2 shared diseases including Gonadal dysgenesis, Perrault syndrome — evidence mostly Disgenet. LARS2 3 shared diseasesGonadal dysgenesis, Premature ovarian failure, Perrault syndrome 3 shared evidence sourcesDisgenet (Gonadal dysgenesis), Disgenet (Premature ovarian failure), GWAS catalog (Perrault syndrome) Related via 3 shared diseases including Gonadal dysgenesis, Premature ovarian failure — evidence mostly Disgenet. MSH4 2 shared diseasesGonadal dysgenesis, Premature ovarian failure 2 shared evidence sourcesDisgenet (Gonadal dysgenesis), Disgenet (Premature ovarian failure) Related via 2 shared diseases including Gonadal dysgenesis, Premature ovarian failure — evidence mostly Disgenet. PMF1-BGLAP 6 shared pathwaysAmplification 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 Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids. NUDC 6 shared pathwaysAmplification 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 Related via 6 shared pathways including Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal, Separation of Sister Chromatids.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ERAL1	2	["Gonadal dysgenesis","Perrault syndrome"]	0	[]	2	["Disgenet (Gonadal dysgenesis)","GWAS catalog (Perrault syndrome)"]
LARS2	3	["Gonadal dysgenesis","Premature ovarian failure","Perrault syndrome"]	0	[]	3	["Disgenet (Gonadal dysgenesis)","Disgenet (Premature ovarian failure)","GWAS catalog (Perrault syndrome)"]
MSH4	2	["Gonadal dysgenesis","Premature ovarian failure"]	0	[]	2	["Disgenet (Gonadal dysgenesis)","Disgenet (Premature ovarian failure)"]
PMF1-BGLAP	0	[]	6	["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"]	0	[]
NUDC	0	[]	6	["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"]	0	[]

Diseases Linked via Similar Genes

Xx gonadal dysgenesis syndrome Linked via 2 of 5 related genesERAL1, LARS2 Hearing loss Linked via 1 of 5 related genesERAL1 Eczema Linked via 1 of 5 related genesLARS2 Bipolar disorder Linked via 1 of 5 related genesLARS2 Hydrops with lactic acidosis and sideroblastic anemia Linked via 1 of 5 related genesLARS2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Xx gonadal dysgenesis syndrome	2	["ERAL1","LARS2"]
Hearing loss	1	["ERAL1"]
Eczema	1	["LARS2"]
Bipolar disorder	1	["LARS2"]
Hydrops with lactic acidosis and sideroblastic anemia	1	["LARS2"]