Seroatlas · Human Serome Atlas

NSMCE2

E3 SUMO-protein ligase NSE2

Also known as: C8orf36, FLJ32440, MMS21, NSE2, NSE2_HUMAN, ZMIZ7

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

Protein identityUniProt · HPA

UniProt accession
Q96MF7
Gene
NSMCE2
Ensembl
ENSG00000156831
Chromosome
8
Canonical length
247 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

247 residues, UniProt reviewed canonical sequence.

>Q96MF7|NSMCE2
     1  MPGRSSSNSG STGFISFSGV ESALSSLKNF QACINSGMDT ASSVALDLVE SQTEVSSEYS
    61  MDKAMVEFAT LDRQLNHYVK AVQSTINHVK EERPEKIPDL KLLVEKKFLA LQSKNSDADF
   121  QNNEKFVQFK QQLKELKKQC GLQADREADG TEGVDEDIIV TQSQTNFTCP ITKEEMKKPV
   181  KNKVCGHTYE EDAIVRMIES RQKRKKKAYC PQIGCSHTDI RKSDLIQDEA LRRAIENHNK
   241  KRHRHSE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NSMCE2 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)
0.39
Highest tissue expression
33 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 33 nTPM
  • bone marrow: 29 nTPM
  • tongue: 25 nTPM
  • tonsil: 25 nTPM
  • thymus: 24 nTPM
  • ovary: 23 nTPM

Single-cell type

  • neutrophil progenitors: 833 nCPM
  • neutrophils: 646 nCPM
  • choroid plexus epithelial cells: 613 nCPM
  • sertoli cells: 591 nCPM
  • myonuclei: 573 nCPM
  • erythrocyte progenitors: 494 nCPM

Immune cell

  • eosinophil: 70 nTPM
  • T-reg: 38 nTPM
  • naive CD8 T-cell: 26 nTPM
  • naive B-cell: 26 nTPM
  • memory B-cell: 25 nTPM
  • memory CD8 T-cell: 25 nTPM

Brain region

  • white matter: 23 nTPM
  • choroid plexus: 18 nTPM
  • cerebral cortex: 17 nTPM
  • thalamus: 17 nTPM
  • basal ganglia: 16 nTPM
  • pons: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NSMCE2.

Disease | AllUniProt

Conditions NSMCE2 is implicated in, by any mechanism.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 116 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Seckel syndrome 10

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)
0.86
gnomAD pLI
0.04
gnomAD missense Z
0.82
DepMap mean gene effect
-0.44
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 17% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NSMCE2 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 NSMCE2 as an antibody target. Whether an autoantibody or antibody against NSMCE2 could matter depends on whether native NSMCE2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NSMCE2 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 NSMCE2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NSMCE2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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