Human Gene Module / Chromosome 15 / NSMCE3

NSMCE3NSE3 homolog, SMC5-SMC6 complex component

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
3 / 5
Rare Variants / Common Variants
3 / 0
Aliases
NSMCE3, HCA4,  LICS,  NSE3,  NDNL2,  MAGEG1,  MAGEL3
Associated Syndromes
-
Chromosome Band
15q13.1
Associated Disorders
-
Relevance to Autism

One study concluded that although NSMCE3 (formerly known as NDNL2) is in the broadly defined chromosome 15 autistic disorder susceptibility region, it is not likely to be pathogenic based on its wide expression pattern and lack of imprinted expression (Chibuk, Bischof and Wevrick 2001).

Molecular Function

The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. The encoded protein plays a role in regulation of cell growth.

SFARI Genomic Platforms
Reports related to NSMCE3 (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Physical and functional interactions of neuronal growth suppressor necdin with p53 Taniura H , et al. (1999) No -
2 Primary A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues Chibuk TK , et al. (2002) Yes -
3 Recent Recommendation Necdin promotes GABAergic neuron differentiation in cooperation with Dlx homeodomain proteins Kuwajima T , et al. (2006) No -
4 Support - Zhou X et al. (2022) Yes -
5 Support - Cirnigliaro M et al. (2023) Yes -
Rare Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
T42C - gene_variant - - - 11782285 Chibuk TK , et al. (2002)
c.654T>G p.Asp218Glu missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.603del p.Leu202CysfsTer4 frameshift_variant Familial Paternal Multiplex 37506195 Cirnigliaro M et al. (2023)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

Gene in a large duplication (15q11-13) that is associated with autism.

Score Delta: Score remained at 2

2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2022
3
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2

Decreased from 3 to 2

Description

Gene in a large duplication (15q11-13) that is associated with autism.

10/1/2019
4
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3

Decreased from 4 to 3

New Scoring Scheme
Description

Gene in a large duplication (15q11-13) that is associated with autism.

Reports Added
[New Scoring Scheme]
7/1/2018
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4

Increased from to 4

Description

Gene in a large duplication (15q11-13) that is associated with autism.

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