• Gene id: 10734

Gene Summary

• Gene Symbol: STAG3   Gene   UCSC   Ensembl
• Gene name: stromal antigen 3
• Alternate names: cohesin subunit SA-3, SCC3 homolog 3, stromalin-3,
• Gene location: 7q22.1 (100177562: 100219333)     Exons: 37     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 608489

SNPs

rs11531577

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100180604G>T
NC_000007.13   g.99778227G>T
NG_034114.1   g.7881G>T
NM_012447.4   c.48G>T
NM_012447.3   c.48G>T
NM_012447.2   c.48G>T
NM_001282718.2   c.48G>T
NM_001282718.1   c.48G>T
NM_001282717.1   c.48G>T
NM_001282716.1   c.48G>T
XM_017011683.2   c.48G>

rs10841496

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs1727130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

Protein Summary

• Protein general information: Q9UJ98  
  • Name: Cohesin subunit SA 3 (SCC3 homolog 3) (Stromal antigen 3) (Stromalin 3)
  • Length: 1225  
  • Mass: 139,034
• Sequence:

  MSSPLQRAVGDTKRALSASSSSSASLPFDDRDSNHTSEGNGDSLLADEDTDFEDSLNRNVKKRAAKRPPKTTPVA
  KHPKKGSRVVHRHSRKQSEPPANDLFNAVKAAKSDMQSLVDEWLDSYKQDQDAGFLELVNFFIQSCGCKGIVTPE
  MFKKMSNSEIIQHLTEQFNEDSGDYPLIAPGPSWKKFQGSFCEFVRTLVCQCQYSLLYDGFPMDDLISLLTGLSD
  SQVRAFRHTSTLAAMKLMTSLVKVALQLSVHQDNNQRQYEAERNKGPGQRAPERLESLLEKRKELQEHQEEIEGM
  MNALFRGVFVHRYRDVLPEIRAICIEEIGCWMQSYSTSFLTDSYLKYIGWTLHDKHREVRLKCVKALKGLYGNRD
  LTTRLELFTSRFKDRMVSMVMDREYDVAVEAVRLLILILKNMEGVLTDADCESVYPVVYASHRGLASAAGEFLYW
  KLFYPECEIRMMGGREQRQSPGAQRTFFQLLLSFFVESELHDHAAYLVDSLWDCAGARLKDWEGLTSLLLEKDQN
  LGDVQESTLIEILVSSARQASEGHPPVGRVTGRKGLTSKERKTQADDRVKLTEHLIPLLPQLLAKFSADAEKVTP
  LLQLLSCFDLHIYCTGRLEKHLELFLQQLQEVVVKHAEPAVLEAGAHALYLLCNPEFTFFSRADFARSQLVDLLT
  DRFQQELEELLQSSFLDEDEVYNLAATLKRLSAFYNTHDLTRWELYEPCCQLLQKAVDTGEVPHQVILPALTLVY
  FSILWTLTHISKSDASQKQLSSLRDRMVAFCELCQSCLSDVDTEIQEQAFVLLSDLLLIFSPQMIVGGRDFLRPL
  VFFPEATLQSELASFLMDHVFIQPGDLGSGDSQEDHLQIERLHQRRRLLAGFCKLLLYGVLEMDAASDVFKHYNK
  FYNDYGDIIKETLTRARQIDRSHCSRILLLSLKQLYTELLQEHGPQGLNELPAFIEMRDLARRFALSFGPQQLQN
  RDLVVMLHKEGIQFSLSELPPAGSSNQPPNLAFLELLSEFSPRLFHQDKQLLLSYLEKCLQHVSQAPGHPWGPVT
  TYCHSLSPVENTAETSPQVLPSSKRRRVEGPAKPNREDVSSSQEESLQLNSIPPTPTLTSTAVKSRQPLWGLKEM
  EEEDGSELDFAQGQPVAGTERSRFLGPQYFQTPHNPSGPGLGNQLMRLSLMEEDEEEELEIQDESNEERQDTDMQ
  ASSYSSTSERGLDLLDSTELDIEDF

• Structural information:
  • Protein Domains: SCD. (309-394)
  • Interpro: IPR016024  IPR020839  IPR013721  
  • Prosite: PS51425
  • STRING: ENSP00000319318
• Other Databases: GeneCards:  STAG3  Malacards:  STAG3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000795	synaptonemal complex	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0007130	synaptonemal complex assembly	TAS	biological process
GO:0030893	meiotic cohesin complex	IDA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0000795	synaptonemal complex	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0007130	synaptonemal complex assembly	TAS	biological process
GO:0030893	meiotic cohesin complex	IDA	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0000795	synaptonemal complex	TAS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0007130	synaptonemal complex assembly	TAS	biological process
GO:0030893	meiotic cohesin complex	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04114	Oocyte meiosis

Diseases

Associated diseases	References
Cancer (ovarian)	GAD: 19270026
Premature ovarian insufficiency (POI)	INFBASE: 26059840
Premature ovarian failure (POF)	INFBASE: 24608227
Sertoli cell only syndrome (SCOS)	MIK: 18706547
Male factor infertility	MIK: 18706547
Premature ovarian failure (POF)	OMIM: 608489
Azoospermia	MIK: 31125047
Hypospermatogenesis	MIK: 28361989
Male infertility	MIK: 24608227
Male infertility due to meiotic arrest	MIK: 31682730
Non obstructive azoospermia	MIK: 23869807
Sertoli cell-only syndrome (SCOS)	MIK: 18706547
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18706547	Sertoli cell-only syndrome (SCOS), male infertility			24 (20 healthy males of proven fertility underwent a vasectomy, 4 infertile patiets)	Male infertility	STAG3
24608227	Male infertility				Male infertility
31682730	Male infertility due to meiotic arrest	(c.[1262T>G];[1312C>T], p.[(Leu421Arg)];[(Arg438Ter)])		303 (28 men with NOA due to meiotic arrest, 275 infertile men)	Male infertility	NGS
31125047	Azoospermia	c.1759dupG, c.2394+1G>A		1300 infertile patients, 33 idiopathic NOA patients were analysed in this study, including 31 unrelated men and 2 brothers from a consanguineous family	Male infertility	NGS
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray