NSD2 Chromosome 4

Nuclear receptor binding SET domain protein 2
76 variants 76 Health Risk

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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
RS1035199365 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1047838051 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140468997 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142100377 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142278631 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144335923 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144714547 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201252361 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201619712 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2108804497 Health Risk Conflicting classifications of pathogenicity —
RS2109035117 Health Risk Conflicting classifications of pathogenicity Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474342362 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rauch-Steindl syndrome, Inborn genetic diseases
RS370127436 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371529672 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535066596 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753120179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757383616 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757846841 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762870190 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763851539 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763969166 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764506321 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766736390 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766759466 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771867435 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772470710 Health Risk Conflicting classifications of pathogenicity Lymphoma, Neurodevelopmental delay, 13 conditions
RS1440755101 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS1553872623 Health Risk Likely pathogenic Syndromic intellectual disability, Syndromic intellectual disability
RS1577434780 Health Risk Likely pathogenic NSD2-related disorder, NSD2-related disorder
RS1719727262 Health Risk Likely pathogenic —
RS1726909627 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108805626 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108950399 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108958731 Health Risk Likely pathogenic Wolf-Hirschhorn like syndrome, Wolf-Hirschhorn like syndrome
RS2108976771 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2109020533 Health Risk Likely pathogenic —
RS2474331632 Health Risk Likely pathogenic 4p partial monosomy syndrome, 4p partial monosomy syndrome
RS2474340489 Health Risk Likely pathogenic NSD2-related disorder, NSD2-related disorder
RS2474512303 Health Risk Likely pathogenic —
RS2474621465 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474622067 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2474746861 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474762078 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474781315 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS1267410871 Health Risk Pathogenic —
RS1553873247 Health Risk Pathogenic 4p partial monosomy syndrome, Global developmental delay, Neurodevelopmental delay
RS1560602800 Health Risk Pathogenic Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome, Wolf-Hirschhorn like syndrome
RS1560635105 Health Risk Pathogenic Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome, Wolf-Hirschhorn like syndrome
RS1560696317 Health Risk Pathogenic Wolf-Hirschhorn like syndrome, 4p partial monosomy syndrome, Wolf-Hirschhorn like syndrome
RS1577484648 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome, Rauch-Steindl syndrome
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