STAG3 (STAG3 cohesin complex component)

Gene

• Entrez ID: 10734
• Gene name: STAG3 cohesin complex component
• Gene symbol: STAG3
• Synonyms: SA3, SPGF61
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000785	Component	Chromatin	IBA	21873635
GO:0000795	Component	Synaptonemal complex	TAS	10698974
GO:0003682	Function	Chromatin binding	IBA	21873635
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0007062	Process	Sister chromatid cohesion	IBA	21873635
GO:0007130	Process	Synaptonemal complex assembly	TAS	10698974
GO:0008278	Component	Cohesin complex	IBA	21873635
GO:0030893	Component	Meiotic cohesin complex	IDA	21242291

Other IDs

• MIM: 608489
• HGNC: 11356
• e!Ensembl: ENSG00000066923

Protein

• UniProt ID: 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

• 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

Pathways

KEGG:

Oocyte meiosis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	30617256
Premature ovarian failure	PREMATURE OVARIAN FAILURE 8	rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269, rs587777270, rs201840174, rs587778428, rs41293513, rs200928781, rs587777871, rs587777872, rs606231343, rs672601359, rs193303102, rs193303103, rs193303104, rs138761187, rs869320753, rs869320765, rs878854403, rs875989810, rs875989885, rs876657679, rs1057517779, rs764841861, rs1057519602, rs147021911, rs1060505055, rs376787666, rs1554721235, rs1553752779, rs1553752894, rs144567652, rs1216260561, rs900140738, rs1560311010, rs1060502376, rs1001164504, rs1031011371, rs1596591051, rs1218620893, rs201115244, rs377712900, rs1800917478

Unknown
Disease name	Disease term	dbSNP ID	References
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	29071344
Ovarian failure	Ovarian Failure, Premature, NON RARE IN EUROPE: Primary ovarian failure		26059840
Physiologic amenorrhea	Primary physiologic amenorrhea
Premature menopause	Premature Menopause