Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56160
Gene name	NSE3 component of SMC5/6 complex
Gene symbol	NSMCE3
Synonyms (NCBI Gene)	HCA4LICSMAGEG1MAGEL3NDNL2NSE3
Chromosome	15
Chromosome location	15q13.1
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]

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	NAS	16810316
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	NAS	17589526
GO:0005515	Function	Protein binding	IPI	18086888, 20864041, 21364888, 26496610, 27427983, 28514442, 32389690, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	27427983
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016925	Process	Protein sumoylation	NAS	32389690
GO:0030915	Component	Smc5-Smc6 complex	IDA	18086888, 27427983
GO:0030915	Component	Smc5-Smc6 complex	NAS	32389690
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	20864041
GO:0032204	Process	Regulation of telomere maintenance	NAS	17589526
GO:0034644	Process	Cellular response to UV	IMP	27427983
GO:0046983	Function	Protein dimerization activity	IDA	27427983
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0071478	Process	Cellular response to radiation	IMP	27427983
GO:0072711	Process	Cellular response to hydroxyurea	IMP	27427983
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0140588	Process	Chromatin looping	NAS	32389690

MIM	HGNC	e!Ensembl
608243	7677	ENSG00000185115

Q96MG7

Protein name

Non-structural maintenance of chromosomes element 3 homolog (Non-SMC element 3 homolog) (Hepatocellular carcinoma-associated protein 4) (MAGE-G1 antigen) (Melanoma-associated antigen G1) (Necdin-like protein 2)

Protein function

Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination (PubMed:20864041, PubMed:27427983). The complex may promote sister chromatid homologous recombination by recruiting the SMC1

PDB

5HVQ , 5WY5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01454	MAGE	92 → 261	MAGE family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11782285}.

Sequence

MLQKPRNRGRSGGQAERDRDWSHSGNPGASRAGEDARVLRDGFAEEAPSTSRGPGGSQGS
QGPSPQGARRAQAAPAVGPRSQKQLELKVSELVQFLLIKDQKKIPIKRADILKHVIGDYK
DIFPDLFKRAAERLQYVFGYKLVELEPKSNTYILINTLEPVEEDAEMRGDQGTPTTGLLM
IVLGLIFMKGNTIKETEAWDFLRRLGVYPTKKHLIFGDPKKLITEDFVRQRYLEYRRIPH
TDPVDYEFQWGPRTNLETSKMKVLKFVAKVHNQDPKDWPAQYCEALADEENRARPQPSGP
APSS

Sequence length

304

Interactions

View interactions

	Reactome
			SUMOylation of DNA damage response and repair proteins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lung damage, immunodeficiency and chromosome breakage syndrome	Likely pathogenic; Pathogenic	rs199905054, rs886037827	RCV000258542 RCV000258643	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung disease, immunodeficiency, and chromosome breakage syndrome;	Likely pathogenic; Pathogenic	rs199905054, rs886037827	RCV000412499 RCV000412556	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME,	—	CTD, ClinGen, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NSMCE3-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	BEFREE	11782285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiolitis Obliterans	Bronchiolitis Obliterans	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29909339		★★★★★ ★☆☆☆☆ Found in Text Mining only
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME	Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	UNIPROT_DG	27427983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME	Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	GENOMICS_ENGLAND_DG	27427983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME	Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME	Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	27427983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29136525, 29909339, 31237458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	11782285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	27427983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29571155, 31539777		★★★★★ ★☆☆☆☆ Found in Text Mining only

NSMCE3 (NSE3 component of SMC5/6 complex)