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

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

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		/	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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