ENSG00000066923


Homo sapiens

Features
Gene ID: ENSG00000066923
  
Biological name :STAG3
  
Synonyms : Q9UJ98 / STAG3 / stromal antigen 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q22.1
Gene start: 100177563
Gene end: 100221488
  
Corresponding Affymetrix probe sets: 219753_at (Human Genome U133 Plus 2.0 Array)   219812_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000400359
Ensembl peptide - ENSP00000397067
Ensembl peptide - ENSP00000407884
Ensembl peptide - ENSP00000484098
Ensembl peptide - ENSP00000477973
Ensembl peptide - ENSP00000409283
Ensembl peptide - ENSP00000319318
Ensembl peptide - ENSP00000377586
Ensembl peptide - ENSP00000393790
Ensembl peptide - ENSP00000395039
NCBI entrez gene - 10734     See in Manteia.
OMIM - 608489
RefSeq - XM_017011687
RefSeq - NM_001282716
RefSeq - NM_001282717
RefSeq - NM_001282718
RefSeq - NM_012447
RefSeq - XM_011515742
RefSeq - XM_017011683
RefSeq - XM_017011684
RefSeq - XM_017011685
RefSeq - XM_017011686
RefSeq Peptide - NP_001269647
RefSeq Peptide - NP_036579
RefSeq Peptide - NP_001269646
RefSeq Peptide - NP_001269645
swissprot - H0Y4S6
swissprot - H7C0H6
swissprot - Q9UJ98
swissprot - C9J3T3
swissprot - D6W5U7
swissprot - C9JYW5
swissprot - C9JTG4
Ensembl - ENSG00000066923
  
Related genetic diseases (OMIM): 615723 - Premature ovarian failure 8, 615723
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 stag3ENSDARG00000104388Danio rerio
 Stag3ENSMUSG00000036928Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
STAG2 / Q8N3U4 / stromal antigen 2ENSG0000010197248
STAG1 / Q8WVM7 / stromal antigen 1ENSG0000011800748


Protein motifs (from Interpro)
Interpro ID Name
 IPR011989  Armadillo-like helical
 IPR013721  STAG
 IPR016024  Armadillo-type fold
 IPR020839  Stromalin conservative domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007059 chromosome segregation IEA
 biological_processGO:0007129 synapsis IEA
 biological_processGO:0007130 synaptonemal complex assembly TAS
 biological_processGO:0034502 protein localization to chromosome IEA
 biological_processGO:0051321 meiotic cell cycle IEA
 cellular_componentGO:0000775 chromosome, centromeric region IEA
 cellular_componentGO:0000794 condensed nuclear chromosome IEA
 cellular_componentGO:0000795 synaptonemal complex IEA
 cellular_componentGO:0000800 lateral element IEA
 cellular_componentGO:0000802 transverse filament IEA
 cellular_componentGO:0001673 male germ cell nucleus IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0030893 meiotic cohesin complex IEA
 cellular_componentGO:0034991 nuclear meiotic cohesin complex IEA
 molecular_functionGO:0005488 binding IEA


Pathways (from Reactome)
Pathway description
Meiotic synapsis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000786 Primary amenorrhea 
Show

 HP:0000837 Elevated gonadotropins 
Show

 HP:0008209 Premature ovarian failure 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr