NSMCE3NSE3 homolog, SMC5-SMC6 complex component
Autism Reports / Total Reports
4 / 6Rare Variants / Common Variants
4 / 0Aliases
NSMCE3, HCA4, LICS, NSE3, NDNL2, MAGEG1, MAGEL3Associated Syndromes
-Chromosome Band
15q13.1Associated 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.
External Links
SFARI Genomic Platforms
Reports related to NSMCE3 (6 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 | - |
| 6 | Support | - | Soo-Whee Kim et al. (2024) | Yes | - |
Rare Variants (4)
| 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.255G>A | p.Leu85= | synonymous_variant | De novo | - | - | 39334436 | Soo-Whee Kim et al. (2024) | |
| c.603del | p.Leu202CysfsTer4 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate
Gene in a large duplication (15q11-13) that is associated with autism.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe 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
Decreased from 3 to 2
Description
Gene in a large duplication (15q11-13) that is associated with autism.
10/1/2019
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
Increased from to 4
Description
Gene in a large duplication (15q11-13) that is associated with autism.