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

Also Known as NSE2; MMS21; ZMIZ7; C8orf36

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 286053

About NSMCE2

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:125,091,860-125,367,120 (from NCBI)

This gene has 13 transcripts (splice variants), 130 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 2.5), lymph node (RPKM 2.3) and 25 other tissues.

Summary

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]

NSMCE2 Products (4)

mRNA	Protein	Name
NM_001349485.2	NP_001336414.1	E3 SUMO-protein ligase NSE2 isoform 1
NM_001349486.2	NP_001336415.1	E3 SUMO-protein ligase NSE2 isoform 1
NM_001349487.2	NP_001336416.1	E3 SUMO-protein ligase NSE2 isoform 2
NM_173685.4	NP_775956.1	E3 SUMO-protein ligase NSE2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SUMO transferase activity	EXP EXP: Inferred from Experiment	16055714	GOA
enables SUMO transferase activity	IDA IDA: Inferred from direct assay	17589526	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18086888	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular senescence	IMP IMP: Inferred from mutant phenotype	17589526	GOA
involved in double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	16810316	GOA
NOT involved in double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	16810316	GOA
involved in positive regulation of maintenance of mitotic sister chromatid cohesion	IMP IMP: Inferred from mutant phenotype	19502785	GOA
involved in positive regulation of mitotic metaphase/anaphase transition	IMP IMP: Inferred from mutant phenotype	19502785	GOA
involved in telomere maintenance via recombination	IMP IMP: Inferred from mutant phenotype	17589526	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in PML body	IDA IDA: Inferred from direct assay	17589526	GOA
part of Smc5-Smc6 complex	IDA IDA: Inferred from direct assay	18086888	GOA
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	17589526	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NSMCE2 Protein Structure

zf-Nse

0
100
200
247 a.a.

Protein Preferred Names	Protein Names
E3 SUMO-protein ligase NSE2	E3 SUMO-protein transferase NSE2

NSMCE2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NSMCE2	Q96MF7	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	NSMCE2	Q96MF7	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	NSMCE2	Q96MF7	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	NSMCE2	Q96MF7	GSN	Homo sapiens	P06396	Y2H Pooling	32814053
Intra	NSMCE2	Q96MF7	GSN	Homo sapiens	P06396	Validated Y2H	32814053
Intra	NSMCE2	Q96MF7	GSN	Homo sapiens	P06396	Y2H Array	32814053
Intra	NSMCE2	Q96MF7	TXLNA	Homo sapiens	P40222	Y2H Prey Pooling	25416956
Intra	NSMCE2	Q96MF7	TXLNA	Homo sapiens	P40222	Y2H Prey Pooling	32296183
Intra	NSMCE2	Q96MF7	TXLNA	Homo sapiens	P40222	Y2H Array	32296183
Intra	NSMCE2	Q96MF7	TXLNA	Homo sapiens	P40222	Y2H Array	25416956
Intra	NSMCE2	Q96MF7	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	NSMCE2	Q96MF7	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	NSMCE2	Q96MF7	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	NSMCE2	Q96MF7	SMC6	Homo sapiens	Q96SB8	Anti Bait CoIP	18086888

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Seckel Syndrome 10	SCKL10
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09598	NSMCE2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NSMCE2	VGNC	VGNC:84095
Mus musculus	NSMCE2	MGD	MGI:1915751
Bos taurus	NSMCE2	VGNC	VGNC:32280
Rattus norvegicus	NSMCE2	RGD	RGD:1305156
Others	NSMCE2	NCBI