Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10734
Gene name	STAG3 cohesin complex component
Gene symbol	STAG3
Synonyms (NCBI Gene)	SA3SPGF61
Chromosome	7
Chromosome location	7q22.1
Summary	The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate sp

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1296715259	A>C,G,T	Likely-pathogenic	Splice acceptor variant, intron variant

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments
MIRT1394520	hsa-let-7a	CLIP-seq
MIRT1394521	hsa-let-7b	CLIP-seq
MIRT1394522	hsa-let-7c	CLIP-seq
MIRT1394523	hsa-let-7d	CLIP-seq
MIRT1394524	hsa-let-7e	CLIP-seq
MIRT1394525	hsa-let-7f	CLIP-seq
MIRT1394526	hsa-let-7g	CLIP-seq
MIRT1394527	hsa-let-7i	CLIP-seq
MIRT1394528	hsa-miR-128	CLIP-seq
MIRT1394529	hsa-miR-1321	CLIP-seq
MIRT1394530	hsa-miR-148a	CLIP-seq
MIRT1394531	hsa-miR-148b	CLIP-seq
MIRT1394532	hsa-miR-152	CLIP-seq
MIRT1394533	hsa-miR-1915	CLIP-seq
MIRT1394534	hsa-miR-202	CLIP-seq
MIRT1394535	hsa-miR-23a	CLIP-seq
MIRT1394536	hsa-miR-23b	CLIP-seq
MIRT1394537	hsa-miR-23c	CLIP-seq
MIRT1394538	hsa-miR-3150a-3p	CLIP-seq
MIRT1394539	hsa-miR-3152-5p	CLIP-seq
MIRT1394540	hsa-miR-3162-5p	CLIP-seq
MIRT1394541	hsa-miR-3175	CLIP-seq
MIRT1394542	hsa-miR-3199	CLIP-seq
MIRT1394543	hsa-miR-4446-3p	CLIP-seq
MIRT1394544	hsa-miR-4458	CLIP-seq
MIRT1394545	hsa-miR-4487	CLIP-seq
MIRT1394546	hsa-miR-4500	CLIP-seq
MIRT1394547	hsa-miR-4515	CLIP-seq
MIRT1394548	hsa-miR-4633-3p	CLIP-seq
MIRT1394549	hsa-miR-4640-5p	CLIP-seq
MIRT1394550	hsa-miR-4652-5p	CLIP-seq
MIRT1394551	hsa-miR-4656	CLIP-seq
MIRT1394552	hsa-miR-4667-5p	CLIP-seq
MIRT1394553	hsa-miR-4685-5p	CLIP-seq
MIRT1394554	hsa-miR-4700-5p	CLIP-seq
MIRT1394555	hsa-miR-4726-5p	CLIP-seq
MIRT1394556	hsa-miR-4731-5p	CLIP-seq
MIRT1394557	hsa-miR-4739	CLIP-seq
MIRT1394558	hsa-miR-4753-3p	CLIP-seq
MIRT1394559	hsa-miR-4756-5p	CLIP-seq
MIRT1394560	hsa-miR-4774-3p	CLIP-seq
MIRT1394561	hsa-miR-4786-3p	CLIP-seq
MIRT1394562	hsa-miR-522	CLIP-seq
MIRT1394563	hsa-miR-526b	CLIP-seq
MIRT1394564	hsa-miR-661	CLIP-seq
MIRT1394565	hsa-miR-939	CLIP-seq
MIRT1394566	hsa-miR-98	CLIP-seq
MIRT1394535	hsa-miR-23a	CLIP-seq
MIRT1394536	hsa-miR-23b	CLIP-seq
MIRT1394537	hsa-miR-23c	CLIP-seq
MIRT1394539	hsa-miR-3152-5p	CLIP-seq
MIRT2118390	hsa-miR-4268	CLIP-seq
MIRT2118391	hsa-miR-4448	CLIP-seq
MIRT1394558	hsa-miR-4753-3p	CLIP-seq
MIRT2118392	hsa-miR-4768-5p	CLIP-seq
MIRT1394560	hsa-miR-4774-3p	CLIP-seq
MIRT1394562	hsa-miR-522	CLIP-seq
MIRT2118393	hsa-miR-579	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000785	Component	Chromatin	IBA
GO:0000795	Component	Synaptonemal complex	TAS	10698974
GO:0003682	Function	Chromatin binding	IBA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	32409525
GO:0005634	Component	Nucleus	TAS	10698974
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0007059	Process	Chromosome segregation	IEA
GO:0007062	Process	Sister chromatid cohesion	IBA
GO:0007130	Process	Synaptonemal complex assembly	TAS	10698974
GO:0030893	Component	Meiotic cohesin complex	IBA
GO:0030893	Component	Meiotic cohesin complex	IDA	21242291
GO:0030893	Component	Meiotic cohesin complex	NAS	32409525
GO:0034089	Process	Establishment of meiotic sister chromatid cohesion	IBA
GO:0034089	Process	Establishment of meiotic sister chromatid cohesion	IMP	31682730
GO:0034089	Process	Establishment of meiotic sister chromatid cohesion	NAS	32409525
GO:0051321	Process	Meiotic cell cycle	IEA

MIM	HGNC	e!Ensembl
608489	11356	ENSG00000066923

Q9UJ98

Protein name

Cohesin subunit SA-3 (SCC3 homolog 3) (Stromal antigen 3) (Stromalin-3)

Protein function

Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be tra

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08514	STAG	173 → 286	STAG domain	Family

Tissue specificity

TISSUE SPECIFICITY: Testis specific.

Sequence

MSSPLQRAVGDTKRALSASSSSSASLPFDDRDSNHTSEGNGDSLLADEDTDFEDSLNRNV
KKRAAKRPPKTTPVAKHPKKGSRVVHRHSRKQSEPPANDLFNAVKAAKSDMQSLVDEWLD
SYKQDQDAGFLELVNFFIQSCGCKGIVTPEMFKKMSNSEIIQHLTEQFNEDSGDYPLIAP
GPSWKKFQGSFCEFVRTLVCQCQYSLLYDGFPMDDLISLLTGLSDSQVRAFRHTSTLAAM
KLMTSLVKVALQLSVHQDNNQRQYEAERNKGPGQRAPERLESLLEKRKELQEHQEEIEGM
MNALFRGVFVHRYRDVLPEIRAICIEEIGCWMQSYSTSFLTDSYLKYIGWTLHDKHREVR
LKCVKALKGLYGNRDLTTRLELFTSRFKDRMVSMVMDREYDVAVEAVRLLILILKNMEGV
LTDADCESVYPVVYASHRGLASAAGEFLYWKLFYPECEIRMMGGREQRQSPGAQRTFFQL
LLSFFVESELHDHAAYLVDSLWDCAGARLKDWEGLTSLLLEKDQNLGDVQESTLIEILVS
SARQASEGHPPVGRVTGRKGLTSKERKTQADDRVKLTEHLIPLLPQLLAKFSADAEKVTP
LLQLLSCFDLHIYCTGRLEKHLELFLQQLQEVVVKHAEPAVLEAGAHALYLLCNPEFTFF
SRADFARSQLVDLLTDRFQQELEELLQSSFLDEDEVYNLAATLKRLSAFYNTHDLTRWEL
YEPCCQLLQKAVDTGEVPHQVILPALTLVYFSILWTLTHISKSDASQKQLSSLRDRMVAF
CELCQSCLSDVDTEIQEQAFVLLSDLLLIFSPQMIVGGRDFLRPLVFFPEATLQSELASF
LMDHVFIQPGDLGSGDSQEDHLQIERLHQRRRLLAGFCKLLLYGVLEMDAASDVFKHYNK
FYNDYGDIIKETLTRARQIDRSHCSRILLLSLKQLYTELLQEHGPQGLNELPAFIEMRDL
ARRFALSFGPQQLQNRDLVVMLHKEGIQFSLSELPPAGSSNQPPNLAFLELLSEFSPRLF
HQDKQLLLSYLEKCLQHVSQAPGHPWGPVTTYCHSLSPVENTAETSPQVLPSSKRRRVEG
PAKPNREDVSSSQEESLQLNSIPPTPTLTSTAVKSRQPLWGLKEMEEEDGSELDFAQGQP
VAGTERSRFLGPQYFQTPHNPSGPGLGNQLMRLSLMEEDEEEELEIQDESNEERQDTDMQ
ASSYSSTSERGLDLLDSTELDIEDF

Sequence length

1225

Interactions

View interactions

	KEGG
	Oocyte meiosis

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the ovary	Likely pathogenic	rs764841861	RCV000415224
Female infertility	Likely pathogenic	rs764841861	RCV000415001
Hypomyelination and Congenital Cataract	Likely pathogenic	rs2117331664	RCV005861483
Non-obstructive azoospermia	Likely pathogenic	rs2117315457, rs1161498711, rs751680143	RCV001698064 RCV000791327 RCV000791328
Premature ovarian failure	Pathogenic	rs774733445	RCV001270205
Premature ovarian failure 8	Pathogenic; Likely pathogenic	rs587777267, rs2117072612, rs777219629, rs2485150298, rs2485013405, rs869320765, rs752098175, rs764841861, rs376787666, rs1031011371, rs1800917478	RCV000114367 RCV001797553 RCV001797554 RCV002289272 RCV002465044 RCV000210481 RCV003986045 RCV001078177 RCV000494704 RCV001072103 RCV001078176
Premature ovarian insufficiency	Likely pathogenic	rs2117315457, rs764841861	RCV001698065 RCV000415001
PRIMARY OVARIAN FAILURE 8	Pathogenic; Likely pathogenic	rs2117524953, rs1031011371	RCV001797557 RCV001797149
Spermatogenesis maturation arrest	Likely pathogenic	rs1161498711, rs751680143	RCV000791327 RCV000791328
Spermatogenic failure 61	Pathogenic; Likely pathogenic	rs1251996684, rs2117333857, rs1161498711, rs751680143, rs1031011371	RCV001797555 RCV001797556 RCV001797137 RCV001797138 RCV001797148
STAG3-related disorder	Likely pathogenic	rs770908481	RCV003406253

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CASTOR3-related condition	Benign	rs140742906	RCV004758768
See cases	Uncertain significance	rs1165337774, rs200361384	RCV004584515 RCV004584516

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrest of spermatogenesis	Associate	37867192
Azoospermia	Associate	32634216, 33980954
Azoospermia Nonobstructive	Associate	31115363
Carcinoma Hepatocellular	Associate	34888264
Carcinoma Hepatocellular	Inhibit	35941537
Carcinoma Ovarian Epithelial	Associate	20635389
Chromosome Aberrations	Associate	35503298
Infertility	Associate	18706547, 32634216
Infertility Male	Associate	18706547, 31115363, 32634216, 34954426
Lung Diseases	Associate	26425700
Melanoma	Associate	27500726
Neoplasms	Associate	20635389, 27462861, 36179046
Neoplasms	Inhibit	27500726, 35941537
Ovarian Dysgenesis 2	Associate	35503298
Ovarian Neoplasms	Associate	20635389, 33036707
Primary Ovarian Insufficiency	Associate	26059840, 32634216, 33036707, 35503298
Sertoli Cell Only Syndrome	Associate	18706547
Spermatogenic Failure Nonobstructive Y Linked	Associate	31115363
Squamous Cell Carcinoma of Head and Neck	Associate	39323031
Trisomy 13 Syndrome	Associate	31464342

STAG3 (STAG3 cohesin complex component)