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

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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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the ovary	Likely pathogenic	rs764841861	RCV000415224	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Female infertility	Likely pathogenic	rs764841861	RCV000415001	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypomyelination and Congenital Cataract	Likely pathogenic	rs2117331664	RCV005861483	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Likely pathogenic	rs2117315457, rs1161498711, rs751680143	RCV001698064 RCV000791327 RCV000791328	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure	Pathogenic	rs774733445	RCV001270205	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 8	Pathogenic; Likely pathogenic	rs587777267, rs2117072612, rs777219629, rs2485150298, rs2485013405, rs869320765, rs752098175, rs764841861, rs376787666, rs1031011371, rs1800917478	RCV000114367 RCV001797553 RCV001797554 RCV002289272 RCV002465044 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Premature ovarian insufficiency	Likely pathogenic	rs2117315457, rs764841861	RCV001698065 RCV000415001	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRIMARY OVARIAN FAILURE 8	Pathogenic; Likely pathogenic	rs2117524953, rs1031011371	RCV001797557 RCV001797149	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenesis maturation arrest	Likely pathogenic	rs1161498711, rs751680143	RCV000791327 RCV000791328	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 61	Pathogenic; Likely pathogenic	rs1251996684, rs2117333857, rs1161498711, rs751680143, rs1031011371	RCV001797555 RCV001797556 RCV001797137 RCV001797138 RCV001797148	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STAG3-related disorder	Likely pathogenic	rs770908481	RCV003406253	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CASTOR3-related condition	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30617256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	32634216, 33980954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	31115363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	31115363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34888264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35941537	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	20635389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20635389, 31125047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18299561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	31682730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20635389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	18706547, 32634216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	18706547, 31115363, 32634216, 34954426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26425700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29071344		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31125047		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27500726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	27500726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27500726		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	31125047, 31682730		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Dysgenesis 2	Ovarian dysgenesis	Pubtator	35503298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	26059840, 28393351, 30006057, 31363903, 31682730		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	GENOMICS_ENGLAND_DG	26059840		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	31125047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20635389, 33036707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	26059840, 28393351, 30006057, 31363903, 31682730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PREMATURE OVARIAN FAILURE 8	Premature Ovarian Failure	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PREMATURE OVARIAN FAILURE 8	Premature Ovarian Failure	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	39323031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	10698974		★★★★★ ★☆☆☆☆ Found in Text Mining only

STAG3 (STAG3 cohesin complex component)