NSD2 Chromosome 4
Nuclear receptor binding SET domain protein 2
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What This Gene Does
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|Histone lysine methyltransferases|PWWP domain containing|SET domain containing"
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000109685
Associated Conditions (14)
Inborn genetic diseases
Rauch-Steindl syndrome
Lymphoma
Neurodevelopmental delay
13 conditions
Medulloblastoma WNT activated
Precursor B-cell acute lymphoblastic leukemia
Syndromic intellectual disability
NSD2-related disorder
Wolf-Hirschhorn like syndrome
4p partial monosomy syndrome
Global developmental delay
NSD2-associated disorder
atypical Wolf-Hirschhorn syndrome
Key Variants
RS1035199365
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1047838051
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140468997
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142100377
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142278631
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144335923
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144714547
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201252361
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201619712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2108804497
Conflicting classifications of pathogenicity
Health Risk
RS2109035117
Conflicting classifications of pathogenicity
Rauch-Steindl syndrome, Rauch-Steindl syndrome
Health Risk
RS2474342362
Conflicting classifications of pathogenicity
Inborn genetic diseases, Rauch-Steindl syndrome, Inborn genetic diseases
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1577532139 | Health Risk | Pathogenic | — |
| RS1577584497 | Health Risk | Pathogenic | — |
| RS1717034691 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS1717589360 | Health Risk | Pathogenic | NSD2-associated disorder, atypical Wolf-Hirschhorn syndrome, NSD2-associated disorder |
| RS1719469952 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1725000714 | Health Risk | Pathogenic | 4p partial monosomy syndrome, 4p partial monosomy syndrome |
| RS2108804893 | Health Risk | Pathogenic | — |
| RS2108805708 | Health Risk | Pathogenic | Syndromic intellectual disability, Syndromic intellectual disability |
| RS2108877068 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2108940433 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2108957092 | Health Risk | Pathogenic | — |
| RS2108959336 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2108971327 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2108971782 | Health Risk | Pathogenic | 4p partial monosomy syndrome, 4p partial monosomy syndrome |
| RS2474219766 | Health Risk | Pathogenic | NSD2-related disorder, NSD2-related disorder |
| RS2474340960 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2474621918 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2474633301 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2474638543 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2474669849 | Health Risk | Pathogenic | — |
| RS2474746659 | Health Risk | Pathogenic | — |
| RS2474751204 | Health Risk | Pathogenic | — |
| RS574794395 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS748707745 | Health Risk | Pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |
| RS2109020378 | Health Risk | Pathogenic/Likely pathogenic | Rauch-Steindl syndrome, NSD2-related disorder, Rauch-Steindl syndrome |
| RS752037034 | Health Risk | Pathogenic/Likely pathogenic | Rauch-Steindl syndrome, Rauch-Steindl syndrome |