Information on NSMCE3
Basic details
Alt. symbols: NDNL2 | HCA4 | MAGEG1 | MAGEL3 | NSE3
Approved name: NSE3 homolog, SMC5-SMC6 complex component
Alt. names: necdin-like 2, necdin-like 2, SMC5-SMC6 complex component
Location: 15q13.1: 29264989 - 29269822 (-)
Gene type: protein_coding, 1 transcripts.
Scores: LoFtool: 0.486000 | pLI: 0.19552257 | LOEUF: 1.041
Normal function
Dysfunction and disease
Lung disease, immunodeficiency, and chromosome breakage syndrome [MIM:617241] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
1120 |
Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) | AR |
617241 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of NSMCE3
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000332303.6 | CCDS10023 | Select | protein_coding | Yes | 4834 | NM_138704 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in NSMCE3
| ID | Year | Title | Journal | PMID | Variants |
|---|