NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase)

2007-02-01  

Identity

HGNC
NSMCE2
LOCATION
8q24.13
LOCUSID
286053
ALIAS
C8orf36,MMS21,NSE2,ZMIZ7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 286053
MIM: 617246
HGNC: 26513
Ensembl: ENSG00000156831

Variants:

dbSNP: 286053
ClinVar: 286053
TCGA: ENSG00000156831
COSMIC: NSMCE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156831ENST00000287437Q96MF7
ENSG00000156831ENST00000287437A0A024R9J6
ENSG00000156831ENST00000517315E5RFJ1
ENSG00000156831ENST00000517532E5RHW9
ENSG00000156831ENST00000518013E5RK09
ENSG00000156831ENST00000518146E5RG00
ENSG00000156831ENST00000519010A0A087WTZ8
ENSG00000156831ENST00000519712H0YB96
ENSG00000156831ENST00000520866A0A087WTZ8
ENSG00000156831ENST00000522563Q96MF7
ENSG00000156831ENST00000522563A0A024R9J6
ENSG00000156831ENST00000523741E5RIM1

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
362245762022NSMCE2, a novel super-enhancer-regulated gene, is linked to poor prognosis and therapy resistance in breast cancer.5
362245762022NSMCE2, a novel super-enhancer-regulated gene, is linked to poor prognosis and therapy resistance in breast cancer.5
305907222019A genome-wide RNAi screen identifies the SMC5/6 complex as a non-redundant regulator of a Topo2a-dependent G2 arrest.17
307354912019Rescue of collapsed replication forks is dependent on NSMCE2 to prevent mitotic DNA damage.16
305907222019A genome-wide RNAi screen identifies the SMC5/6 complex as a non-redundant regulator of a Topo2a-dependent G2 arrest.17
307354912019Rescue of collapsed replication forks is dependent on NSMCE2 to prevent mitotic DNA damage.16
277921892016Non-SMC Element 2 (NSMCE2) of the SMC5/6 Complex Helps to Resolve Topological Stress.18
277921892016Non-SMC Element 2 (NSMCE2) of the SMC5/6 Complex Helps to Resolve Topological Stress.18
251053642014Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.54
2524598420148q24 amplified segments involve novel fusion genes between NSMCE2 and long noncoding RNAs in acute myelogenous leukemia.23
251053642014Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.54
2524598420148q24 amplified segments involve novel fusion genes between NSMCE2 and long noncoding RNAs in acute myelogenous leukemia.23
227515012012Scc1 sumoylation by Mms21 promotes sister chromatid recombination through counteracting Wapl.51
227515012012Scc1 sumoylation by Mms21 promotes sister chromatid recombination through counteracting Wapl.51
215503422011The Nse2/Mms21 SUMO ligase of the Smc5/6 complex in the maintenance of genome stability.28

Citation

Dessen P

NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43647/css/gene-fusions/js/lib/all.min.js