Seroatlas · Human Serome Atlas

STAG2

Cohesin subunit SA-2

Also known as: SA-2, SA2, SCC3B, STAG2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N3U4
Gene: STAG2
Ensembl: ENSG00000101972
Chromosome: X
Canonical length: 1231 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Nucleoli fibrillar center

OverviewNCBI Gene

The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Canonical amino-acid sequenceUniProt

1231 residues, UniProt reviewed canonical sequence.

>Q8N3U4|STAG2
     1  MIAAPEIPTD FNLLQESETH FSSDTDFEDI EGKNQKQGKG KTCKKGKKGP AEKGKGGNGG
    61  GKPPSGPNRM NGHHQQNGVE NMMLFEVVKM GKSAMQSVVD DWIESYKHDR DIALLDLINF
   121  FIQCSGCKGV VTAEMFRHMQ NSEIIRKMTE EFDEDSGDYP LTMAGPQWKK FKSSFCEFIG
   181  VLVRQCQYSI IYDEYMMDTV ISLLTGLSDS QVRAFRHTST LAAMKLMTAL VNVALNLSIN
   241  MDNTQRQYEA ERNKMIGKRA NERLELLLQK RKELQENQDE IENMMNAIFK GVFVHRYRDA
   301  IAEIRAICIE EIGIWMKMYS DAFLNDSYLK YVGWTMHDKQ GEVRLKCLTA LQGLYYNKEL
   361  NSKLELFTSR FKDRIVSMTL DKEYDVAVQA IKLLTLVLQS SEEVLTAEDC ENVYHLVYSA
   421  HRPVAVAAGE FLYKKLFSRR DPEEDGMMKR RGRQGPNANL VKTLVFFFLE SELHEHAAYL
   481  VDSMWDCATE LLKDWECMNS LLLEEPLSGE EALTDRQESA LIEIMLCTIR QAAECHPPVG
   541  RGTGKRVLTA KEKKTQLDDR TKITELFAVA LPQLLAKYSV DAEKVTNLLQ LPQYFDLEIY
   601  TTGRLEKHLD ALLRQIRNIV EKHTDTDVLE ACSKTYHALC NEEFTIFNRV DISRSQLIDE
   661  LADKFNRLLE DFLQEGEEPD EDDAYQVLST LKRITAFHNA HDLSKWDLFA CNYKLLKTGI
   721  ENGDMPEQIV IHALQCTHYV ILWQLAKITE SSSTKEDLLR LKKQMRVFCQ ICQHYLTNVN
   781  TTVKEQAFTI LCDILMIFSH QIMSGGRDML EPLVYTPDSS LQSELLSFIL DHVFIEQDDD
   841  NNSADGQQED EASKIEALHK RRNLLAAFCK LIVYTVVEMN TAADIFKQYM KYYNDYGDII
   901  KETMSKTRQI DKIQCAKTLI LSLQQLFNEM IQENGYNFDR SSSTFSGIKE LARRFALTFG
   961  LDQLKTREAI AMLHKDGIEF AFKEPNPQGE SHPPLNLAFL DILSEFSSKL LRQDKRTVYV
  1021  YLEKFMTFQM SLRREDVWLP LMSYRNSLLA GGDDDTMSVI SGISSRGSTV RSKKSKPSTG
  1081  KRKVVEGMQL SLTEESSSSD SMWLSREQTL HTPVMMQTPQ LTSTIMREPK RLRPEDSFMS
  1141  VYPMQTEHHQ TPLDYNRRGT SLMEDDEEPI VEDVMMSSEG RIEDLNEGMD FDTMDIDLPP
  1201  SKNRRERTEL KPDFFDPASI MDESVLGVSM F

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against STAG2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 62 nTPM

Expression across tissuesHPA

Tissue

thymus: 62 nTPM
bone marrow: 46 nTPM
thyroid gland: 45 nTPM
parathyroid gland: 41 nTPM
tonsil: 40 nTPM
breast: 37 nTPM

Single-cell type

neutrophils: 933 nCPM
neutrophil progenitors: 618 nCPM
monocytes: 318 nCPM
monocyte progenitors: 307 nCPM
nk-cells: 264 nCPM
t-cells: 248 nCPM

Immune cell

neutrophil: 38 nTPM
eosinophil: 24 nTPM
basophil: 24 nTPM
non-classical monocyte: 20 nTPM
naive CD4 T-cell: 17 nTPM
naive B-cell: 17 nTPM

Brain region

white matter: 57 nTPM
cerebellum: 51 nTPM
choroid plexus: 50 nTPM
medulla oblongata: 46 nTPM
basal ganglia: 43 nTPM
hypothalamus: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about STAG2.

Disease | AllUniProt

Conditions STAG2 is implicated in, by any mechanism.

Mullegama-Klein-Martinez syndrome (MKMS) MIM:301022
Holoprosencephaly 13, X-linked (HPE13) MIM:301043

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 1,037 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Mullegama-Klein-Martinez syndrome
Holoprosencephaly 13, X-linked
STAG2-related disorder
Inborn genetic diseases
Thyroid cancer, nonmedullary, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.09
gnomAD pLI: 1
gnomAD missense Z: 4.94
DepMap mean gene effect: -0.3
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

chromatin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of STAG2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads STAG2 as an antibody target. Whether an autoantibody or antibody against STAG2 could matter depends on whether native STAG2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

STAG2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label STAG2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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