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FLASH GENE

Symbol

STAG3

contributors: mct - updated : 30-09-2020

HGNC name	stromal antigen 3
HGNC id	11356

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune lymph node       highly   tonsils       highly Nervous nerve cranial nerve     highly Reproductive male system testis     highly

cell lineage

cell lines

fluid/secretion

at STAGE

life cycle

division

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

specific stromalin conservative domain (SCD)

HOMOLOGY

Homologene

FAMILY	stromalin family
	SCC3 family

CATEGORY

adhesion , antigen

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,nucleus,chromatin/chromosome
text	synaptonemal complex

basic FUNCTION	chromosome pairing and maintenance of synaptonemal complex structure during the pachytene phase of meiosis
	meiosis-specific cohesin subunits, forming complexes involved in the maintenance of sister chromatid cohesion during division of somatic and germ cells with a sexual dimorphism in sister chromatid cohesion in meiosis
	dynamics of cohesins REC8, STAG3, SMC1B and SMC3 suggest their participation in sister chromatid cohesion throughout the whole meiotic process in human oocytes
	meiosis-specific subunit of the cohesin complex, a large proteinaceous ring with DNA-entrapping ability that ensures sister chromatid cohesion and enables correct synapsis and segregation of homologous chromosomes during meiosis
	STAG3 emerges as the key STAG cohesin involved in major functions of meiotic cohesin
	STAG3 is required for structural changes of chromosomes that mediate chromosome pairing and synapsis, DNA repair and progression of meiosis
	is a novel regulator of microtubule dynamics to ensure euploidy during mouse oocyte meiotic maturation
	STAG3 is a stromalin subunit common to all meiosis-specific cohesin complexes
	encodes for a meiosis-specific protein that is crucial for the functionality of meiotic cohesin complexes

CELLULAR PROCESS	cell cycle,division,meiosis
	nucleotide, chromatin organization

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

STAG3-REC8 cohesin complexes have a critical role in supporting meiotic chromosome structure and functions

INTERACTION

DNA

RNA

small molecule

protein	PRDM9 interacts with STAG3 and REC8 in cooperative relationships that promote normal levels of meiotic DSBs at recombination hotspots in spermatocytes
	PHB in spermatocytes regulates the expression of STAG3, a key component of the meiotic cohesin complex, via a non-canonical JAK/STAT pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

POF8 , SPGF61

Susceptibility

to male infertility

Variant & Polymorphism other	two compound-heterozygous variants in STAG3 (c.[1262T>G];[1312C>T], p.[(Leu421Arg)];[(Arg438Ter)]) have been found to cause male infertility due to complete bilateral meiotic arrest in an otherwise healthy human male

Candidate gene	STAG3 is a strong candidate gene for human male infertility
Marker
Therapy target

ANIMAL & CELL MODELS