SGO2 shugoshin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SGO2provided by HGNC
Official Full Name: shugoshin 2provided by HGNC
Primary source: HGNC:HGNC:30812
See related: Ensembl:ENSG00000163535 MIM:612425; AllianceGenome:HGNC:30812
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SGOL2; TRIPIN
Summary: Predicted to be involved in meiotic sister chromatid cohesion. 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 nuclear body. Part of mitotic cohesin complex. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in testis (RPKM 14.8), lymph node (RPKM 3.1) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (200526142..200584096)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (200993676..201067575)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (201390865..201448819)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SGOL2 promotes prostate cancer progression by inhibiting RAB1A ubiquitination.
Title: SGOL2 promotes prostate cancer progression by inhibiting RAB1A ubiquitination.
High SGO2 Expression Predicts Poor Overall Survival: A Potential Therapeutic Target for Hepatocellular Carcinoma.
Title: High SGO2 Expression Predicts Poor Overall Survival: A Potential Therapeutic Target for Hepatocellular Carcinoma.
Shugosin 2 is a biomarker for pathological grading and survival prediction in patients with gliomas.
Title: Shugosin 2 is a biomarker for pathological grading and survival prediction in patients with gliomas.
results identify an unexpected function of SGO2 in mitotically dividing cells and a mechanism of separase regulation that is independent of securin but still supervised by the spindle assembly checkpoint
Title: Securin-independent regulation of separase by checkpoint-induced shugoshin-MAD2.
The SET localizes at the inner centromere by interacting directly with SGO2, with SET levels declining at increased distances between kinetochore pairs, leading to establishment of chromosome bi-orientation.
Title: Aurora B kinase activity is regulated by SET/TAF1 on Sgo2 at the inner centromere.
Results from a study on gene expression variability markers in early-stage human embryos shows that SGO2 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
Molecular chaperone SET-assisted eviction of linker histones and Shugoshins is a fundamental step in mammalian mitotic progression.
Title: Phospho-H1 Decorates the Inter-chromatid Axis and Is Evicted along with Shugoshin by SET during Mitosis.
In mouse, Sgol2a encoding shugoshin-like 2a is necessary during meiosis in both sexes to maintain the integrity of the cohesin complex that tethers sister chromatids. Human SGO2 has not previously been implicated in any disorder, but in this case of POI and perhaps others, it is a candidate for unexplained infertility
Title: Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Sgol2's ability to protect cohesin depends on its interaction with PP2A, as is its ability to silence the SAC, with the latter being mediated by direct binding to Mad2
Title: Sgol2 provides a regulatory platform that coordinates essential cell cycle processes during meiosis I in oocytes.
identified the phosphorylation of hSgo2 by Aurora B at the N-terminal coiled-coil region and the middle region, and showed that these phosphorylations separately promote binding of hSgo2 to PP2A and MCAK
Title: Phosphorylation of mammalian Sgo2 by Aurora B recruits PP2A and MCAK to centromeres.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome segregation	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in meiotic sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
part_of mitotic cohesin complex	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: shugoshin 2

Names: shugoshin-like 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001160033.1 → NP_001153505.1 shugoshin 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region compared to variant 1, that results in a frameshift. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AC012459, AC080164, AK302457, DB369428

UniProtKB/TrEMBL

B7Z7S9
NM_001160046.1 → NP_001153518.1 shugoshin 2 isoform 3

See identical proteins and their annotated locations for NP_001153518.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AC012459, AC080164, AK095291

UniProtKB/TrEMBL

B7Z7S9
NM_152524.6 → NP_689737.4 shugoshin 2 isoform 1

See identical proteins and their annotated locations for NP_689737.4

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC012459, AC080164, BC092412, DB369428

Consensus CDS

CCDS42796.1

UniProtKB/Swiss-Prot

Q53RR9, Q53T20, Q562F6, Q86XY4, Q8IWK2, Q8IZK1, Q8N1Q5, Q96LQ3

UniProtKB/TrEMBL

B7Z7S9

Related

ENSP00000350447.4, ENST00000357799.9