SGO2

shugoshin 2

Basic information

Region (hg38): 2:200510008-200584096

Previous symbols: [ "SGOL2" ]

Links

ENSG00000163535 ∙ NCBI:151246 ∙ OMIM:612425 ∙ HGNC:30812 ∙ Uniprot:Q562F6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SGO2 gene.

• not_specified (9 variants)
• not_provided (5 variants)
• Premature_ovarian_failure (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SGO2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152524.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			7	4	2	13
nonsense						0
start loss						0
frameshift	1					1
splice donor/acceptor (+/-2bp)						0
Total	1	0	7	4	3

Highest pathogenic variant AF is 0.0000018595609

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SGO2	protein_coding	protein_coding	ENST00000357799	8	73775

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.61e-7	1.00	124741	0	9	124750	0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.564	572	611	0.936	0.0000290	8510
Missense in Polyphen		93	116.53	0.79811		1926
Synonymous	1.43	188	215	0.876	0.0000102	2198
Loss of Function	3.35	18	41.3	0.436	0.00000191	654

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000648	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000625	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000643	0.0000618
Middle Eastern	0.0000625	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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 cohesion complexes until metaphase II/anaphase II transition, preventing premature release of meiosis-specific REC8 cohesin complexes from anaphase I centromeres. Is thus essential for an accurate gametogenesis. May act by targeting PPP2CA to centromeres, thus leading to cohesin dephosphorylation (By similarity). Essential for recruiting KIF2C to the inner centromere and for correcting defective kinetochore attachments. Involved in centromeric enrichment of AUKRB in prometaphase. {ECO:0000250, ECO:0000269|PubMed:16541025, ECO:0000269|PubMed:17485487, ECO:0000269|PubMed:20739936}.
• Pathway: Signal Transduction;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;RHO GTPase Effectors;Signaling by Rho GTPases;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic (Consensus)

Recessive Scores

• pRec: 0.0965

Intolerance Scores

• rvis_EVS: 2.25
• rvis_percentile_EVS: 98.21

Haploinsufficiency Scores

• pHI: 0.0523
• hipred: N
• hipred_score: 0.271
• ghis: 0.536

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Sgo2a
• Phenotype: endocrine/exocrine gland phenotype; cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: cell division;meiotic sister chromatid cohesion, centromeric
• Cellular component: chromosome, centromeric region;condensed chromosome kinetochore;nucleoplasm;cytosol;nuclear body;mitotic cohesin complex
• Molecular function: protein binding