SGO2

protein-coding

shugoshin 2

Gene summary

Predicted to be involved in homologous chromosome segregation; meiotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Predicted to act upstream of or within several processes, including meiotic nuclear division; meiotic sister chromatid cohesion; and positive regulation of maintenance of meiotic sister chromatid cohesion, centromeric. Located in chromosome, centromeric region and nucleoplasm. Part of mitotic cohesin complex. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

SGOL2

MANE transcript

NM_152524.6

Inheritance

ClinVar variants

P:1U:17B:7

Top phenotype

Premature ovarian failure

gnomAD constraint

pLI —, LoF o/e 0.44

Max pathogenic AF

—

Genomic locus

chr2:200,510,008-200,584,096

External References & Databases

Ensembl (ENSG00000163535)

Transcript & Mutation Effects

hg38 • Region Span ~74.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Perrault syndromeLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0017312

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SGO2 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 12

not providedTotal: 5

Premature ovarian failureTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152524.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			15 clinvar	4 clinvar	2 clinvar	21
nonsense						0
start loss						0
frameshift	1 clinvar					1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	1	0	17	4	3	25

Highest pathogenic variant AF is 0.0000018595609

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152524.6	RefSeq	NP_689737.4	8	MANE Select
ENST00000357799.9	Ensembl	ENSP00000350447.4	8	MANE Select
NM_001160033.1	RefSeq	NP_001153505.1	8	Standard
NM_001160046.1	RefSeq	NP_001153518.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

cell division
meiotic sister chromatid cohesion, centromeric

Molecular Function

protein binding

Cellular Component

chromosome, centromeric region
condensed chromosome kinetochore
nucleoplasm
cytosol
nuclear body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357799
Coding exons: 8
Length: 73775
Individuals with no LoFs: 124741
Homozygous LoFs: 0
Heterozygous LoFs: 9
Defined: 124750
p: 0.0000361

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.564	572	611	0.936	0.0000290	8510
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000063	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000064	0.000062	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.0965

Intolerance Scores

RVIS EVS: 2.25
RVIS percentile EVS: 98.21

Essentials

Essential (gene trap): N