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

Homo sapiens

Also known as NSE2; MMS21; ZMIZ7; C8orf36

Gene ID: 286053 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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