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    STAG3 STAG3 cohesin complex component [ Homo sapiens (human) ]

    Gene ID: 10734, updated on 27-Nov-2024

    Summary

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    Official Symbol
    STAG3provided by HGNC
    Official Full Name
    STAG3 cohesin complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:11356
    See related
    Ensembl:ENSG00000066923 MIM:608489; AllianceGenome:HGNC:11356
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SA3; SPGF61
    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 splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in testis (RPKM 44.6), brain (RPKM 6.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STAG3 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100177724..100219334)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101417534..101459147)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99775347..99812010)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99757927-99758426 Neighboring gene galactose-3-O-sulfotransferase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18425 Neighboring gene 60S ribosomal protein L29-like Neighboring gene glypican 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26345 Neighboring gene CASTOR family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26352 Neighboring gene PVR related immunoglobulin domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99844389-99845186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99845985-99846781 Neighboring gene uncharacterized LOC105375426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99866902-99867424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99867949-99868470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18429 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99886514-99886677 Neighboring gene speedy/RINGO cell cycle regulator family member E3 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia. Jaillard S, et al. Mol Hum Reprod, 2020 Sep 1. PMID 32634216
    2. A STAG3 missense mutation in two sisters with primary ovarian insufficiency. Colombo R, et al. Eur J Obstet Gynecol Reprod Biol, 2017 Sep. PMID 28802712
    3. Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency. He WB, et al. Clin Genet, 2018 Feb. PMID 28393351
    4. The association of stromal antigen 3 (STAG3) sequence variations with spermatogenic impairment in the male Korean population. Nam Y, et al. Asian J Androl, 2020 Jan-Feb. PMID 31115363, Free PMC Article
    5. Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency. Heddar A, et al. Mol Genet Genomics, 2019 Dec. PMID 31363903

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. METTL3/IGF2BP2 axis affects the progression of colorectal cancer by regulating m6A modification of STAG3.
      Title: METTL3/IGF2BP2 axis affects the progression of colorectal cancer by regulating m6A modification of STAG3.
    2. The upregulation of stromal antigen 3 expression suppresses the phenotypic hallmarks of hepatocellular carcinoma through the Smad3-CDK4/CDK6-cyclin D1 and CXCR4/RhoA pathways.
      Title: The upregulation of stromal antigen 3 expression suppresses the phenotypic hallmarks of hepatocellular carcinoma through the Smad3-CDK4/CDK6-cyclin D1 and CXCR4/RhoA pathways.
    3. New STAG3 gene variant as a cause of premature ovarian insufficiency", trans "Nueva variante del gen STAG3 causante de insuficiencia ovarica prematura
      Title: New STAG3 gene variant as a cause of premature ovarian insufficiency.
    4. Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.
      Title: Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.
    5. A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature.
      Title: A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature.
    6. Analysis of STAG3 variants in Chinese non-obstructive azoospermia patients with germ cell maturation arrest.
      Title: Analysis of STAG3 variants in Chinese non-obstructive azoospermia patients with germ cell maturation arrest.
    7. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
      Title: STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
    8. The meiosis-specific cohesin component stromal antigen 3 promotes cell migration and chemotherapeutic resistance in colorectal cancer.
      Title: The meiosis-specific cohesin component stromal antigen 3 promotes cell migration and chemotherapeutic resistance in colorectal cancer.
    9. The association of stromal antigen 3 (STAG3) sequence variations with spermatogenic impairment in the male Korean population.
      Title: The association of stromal antigen 3 (STAG3) sequence variations with spermatogenic impairment in the male Korean population.
    10. Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest.
      Title: Mutations in the stromal antigen 3 (STAG3) gene cause male infertility due to meiotic arrest.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Premature ovarian failure 8
    MedGen: C3810367 OMIM: 615723 GeneReviews: Not available
    		not available
    Spermatogenic failure 61
    MedGen: C5562048 OMIM: 619672 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in establishment of meiotic sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of meiotic sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of meiotic sister chromatid cohesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptonemal complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space HDA PubMed 
    part_of meiotic cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of meiotic cohesin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of meiotic cohesin complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in synaptonemal complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cohesin subunit SA-3
    Names
    SCC3 homolog 3
    stromal antigen 3
    stromalin-3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034114.2 RefSeqGene

      Range
      5196..41659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282716.1 → NP_001269645.1  cohesin subunit SA-3 isoform 1

      See identical proteins and their annotated locations for NP_001269645.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA747738, AJ007798, BC146806
      Consensus CDS
      CCDS34703.1
      UniProtKB/Swiss-Prot
      A6H8Z1, B4DZ10, D6W5U8, H7BYK9, Q8NDP3, Q9UJ98
      UniProtKB/TrEMBL
      A8K8M9, B2RU25
      Related
      ENSP00000400359.1, ENST00000426455.5
      Conserved Domains (1) summary
      pfam08514
      Location:173 → 281
      STAG; STAG domain

    2. NM_001282717.2 → NP_001269646.1  cohesin subunit SA-3 isoform 2

      See identical proteins and their annotated locations for NP_001269646.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site in the 3' coding region compared to variant 1. The resulting isoform (2) is 1 aa longer than isoform 1. Variants 3 and 5 both encode the same isoform (2).
      Source sequence(s)
      AC005071, AC073842
      Consensus CDS
      CCDS75642.1
      UniProtKB/TrEMBL
      A8K8M9, B2RU25, D6W5U7
      Related
      ENSP00000477973.1, ENST00000615138.5
      Conserved Domains (1) summary
      pfam08514
      Location:173 → 281
      STAG; STAG domain

    3. NM_001282718.2 → NP_001269647.1  cohesin subunit SA-3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks 2 consecutive in-frame exons in the 5' coding region compared to variant 1. The resulting shorter isoform (3) lacks an in internal protein segment compared to isoform 1.
      Source sequence(s)
      AA747738, AJ007798, AK302693, BC146806, DB097403
      Consensus CDS
      CCDS64730.1
      UniProtKB/TrEMBL
      A8K8M9, B2RU25
      Related
      ENSP00000484098.1, ENST00000620100.5
      Conserved Domains (1) summary
      pfam08514
      Location:115 → 223
      STAG; STAG domain

    4. NM_001375438.1 → NP_001362367.1  cohesin subunit SA-3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 3, encodes isoform 2.
      Source sequence(s)
      AC005071, AC073842
      Consensus CDS
      CCDS75642.1
      UniProtKB/TrEMBL
      A8K8M9, B2RU25, D6W5U7
      Conserved Domains (1) summary
      pfam08514
      Location:173 → 281
      STAG; STAG domain

    5. NM_012447.4 → NP_036579.2  cohesin subunit SA-3 isoform 1

      See identical proteins and their annotated locations for NP_036579.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AA747738, AJ007798, BC146806
      Consensus CDS
      CCDS34703.1
      UniProtKB/Swiss-Prot
      A6H8Z1, B4DZ10, D6W5U8, H7BYK9, Q8NDP3, Q9UJ98
      UniProtKB/TrEMBL
      A8K8M9, B2RU25
      Related
      ENSP00000319318.5, ENST00000317296.9
      Conserved Domains (1) summary
      pfam08514
      Location:173 → 281
      STAG; STAG domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100177724..100219334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011685.2 → XP_016867174.2  cohesin subunit SA-3 isoform X1

    2. XM_047419788.1 → XP_047275744.1  cohesin subunit SA-3 isoform X4

      UniProtKB/TrEMBL
      D6W5U7

    3. XM_047419796.1 → XP_047275752.1  cohesin subunit SA-3 isoform X9

    4. XM_017011683.3 → XP_016867172.1  cohesin subunit SA-3 isoform X3

      UniProtKB/TrEMBL
      A8K8M9, B2RU25

    5. XM_047419787.1 → XP_047275743.1  cohesin subunit SA-3 isoform X1

    6. XM_047419786.1 → XP_047275742.1  cohesin subunit SA-3 isoform X1

    7. XM_017011686.3 → XP_016867175.2  cohesin subunit SA-3 isoform X2

    8. XM_047419797.1 → XP_047275753.1  cohesin subunit SA-3 isoform X10

    9. XM_047419792.1 → XP_047275748.1  cohesin subunit SA-3 isoform X6

    10. XM_017011687.2 → XP_016867176.2  cohesin subunit SA-3 isoform X7

    11. XM_017011684.2 → XP_016867173.2  cohesin subunit SA-3 isoform X1

    12. XM_047419793.1 → XP_047275749.1  cohesin subunit SA-3 isoform X6

    13. XM_047419789.1 → XP_047275745.1  cohesin subunit SA-3 isoform X4

      UniProtKB/TrEMBL
      D6W5U7

    14. XM_047419791.1 → XP_047275747.1  cohesin subunit SA-3 isoform X5

      UniProtKB/Swiss-Prot
      A6H8Z1, B4DZ10, D6W5U8, H7BYK9, Q8NDP3, Q9UJ98

    15. XM_047419795.1 → XP_047275751.1  cohesin subunit SA-3 isoform X9

    16. XM_047419790.1 → XP_047275746.1  cohesin subunit SA-3 isoform X5

      UniProtKB/Swiss-Prot
      A6H8Z1, B4DZ10, D6W5U8, H7BYK9, Q8NDP3, Q9UJ98

    17. XM_047419794.1 → XP_047275750.1  cohesin subunit SA-3 isoform X8

    18. XM_047419798.1 → XP_047275754.1  cohesin subunit SA-3 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101417534..101459147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357109.1 → XP_054213084.1  cohesin subunit SA-3 isoform X1

    2. XM_054357112.1 → XP_054213087.1  cohesin subunit SA-3 isoform X4

      UniProtKB/TrEMBL
      D6W5U7

    3. XM_054357121.1 → XP_054213096.1  cohesin subunit SA-3 isoform X9

    4. XM_054357111.1 → XP_054213086.1  cohesin subunit SA-3 isoform X3

    5. XM_054357106.1 → XP_054213081.1  cohesin subunit SA-3 isoform X1

    6. XM_054357110.1 → XP_054213085.1  cohesin subunit SA-3 isoform X2

    7. XM_054357122.1 → XP_054213097.1  cohesin subunit SA-3 isoform X10

    8. XM_054357116.1 → XP_054213091.1  cohesin subunit SA-3 isoform X6

    9. XM_054357118.1 → XP_054213093.1  cohesin subunit SA-3 isoform X7

    10. XM_054357108.1 → XP_054213083.1  cohesin subunit SA-3 isoform X1

    11. XM_054357117.1 → XP_054213092.1  cohesin subunit SA-3 isoform X6

    12. XM_054357120.1 → XP_054213095.1  cohesin subunit SA-3 isoform X9

    13. XM_054357114.1 → XP_054213089.1  cohesin subunit SA-3 isoform X5

      UniProtKB/Swiss-Prot
      A6H8Z1, B4DZ10, D6W5U8, H7BYK9, Q8NDP3, Q9UJ98

    14. XM_054357119.1 → XP_054213094.1  cohesin subunit SA-3 isoform X8

    15. XM_054357115.1 → XP_054213090.1  cohesin subunit SA-3 isoform X5

      UniProtKB/Swiss-Prot
      A6H8Z1, B4DZ10, D6W5U8, H7BYK9, Q8NDP3, Q9UJ98

    16. XM_054357107.1 → XP_054213082.1  cohesin subunit SA-3 isoform X1

    17. XM_054357113.1 → XP_054213088.1  cohesin subunit SA-3 isoform X4

      UniProtKB/TrEMBL
      D6W5U7

    18. XM_054357123.1 → XP_054213098.1  cohesin subunit SA-3 isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJ98.2 GenPept UniProtKB/Swiss-Prot:Q9UJ98

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