NSMCE3 NSE3 homolog, SMC5-SMC6 complex component [Homo sapiens (human)] - Gene

Summary

Official Symbol: NSMCE3provided by HGNC
Official Full Name: NSE3 homolog, SMC5-SMC6 complex componentprovided by HGNC
Primary source: HGNC:HGNC:7677
See related: Ensembl:ENSG00000185115 MIM:608243; AllianceGenome:HGNC:7677
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HCA4; LICS; NSE3; NDNL2; MAGEG1; MAGEL3
Summary: The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]
Orthologs: mouse all
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Genomic context

Location:: 15q13.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (29264989..29269822, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (27043359..27048192, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (29557193..29562026, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NSMCE3 (also known as NDNL2) gene encodes a subunit of the SMC5/6 complex that is essential for DNA damage response and chromosome segregation
Title: Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
The four non-SMC components of the human complex were identified and characterized and it was demonstrated that the MAGEG1 protein is part of this complex.
Title: Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex.
gene expression, imprinting, and chromosome mapping of NDNL2
Title: A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lung disease, immunodeficiency, and chromosome breakage syndrome; MedGen: C4310653 OMIM: 617241 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC64493P3 (e-PCR)
- UniSTS:273417

D8S2279 (e-PCR)
- UniSTS:473907

WI-17399 (e-PCR)
- UniSTS:11062

D6S1611 (e-PCR)
- UniSTS:464200

D10S16 (e-PCR)
- UniSTS:155756

RH78472 (e-PCR)
- UniSTS:65670

STS-W04542 (e-PCR)
- UniSTS:23984

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hydroxyurea	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin looping	NAS Non-traceable Author Statement more info	PubMed
involved_in double-strand break repair via homologous recombination	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein sumoylation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of Smc5-Smc6 complex	IDA Inferred from Direct Assay more info	PubMed
part_of Smc5-Smc6 complex	NAS Non-traceable Author Statement more info	PubMed
located_in chromosome, telomeric region	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: non-structural maintenance of chromosomes element 3 homolog

Names: MAGE-G1 antigen; hepatocellular carcinoma-associated protein 4; hepatocellular carcinoma-associated protein HCA4; melanoma antigen, family G, 1; melanoma-associated antigen G1; necdin-like 2, SMC5-SMC6 complex component; necdin-like gene 2; necdin-like protein 2; non-SMC element 3 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.