NSD3

Histone-lysine N-methyltransferase NSD3 is an enzyme that in humans is encoded by the NSD3 gene.^[5][6]

NSD3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DAQ, 4GND, 4GNE, 4GNF, 4GNG, 4RXJ, 4YZ8, 2ND1, 2NCZ
Identifiers
Aliases	NSD3, pp14328, WHSC1L1, WHISTLE, Wolf-Hirschhorn syndrome candidate 1-like 1, nuclear receptor binding SET domain protein 3, KMT3G, KMT3F
External IDs	OMIM: 607083; MGI: 2142581; HomoloGene: 56960; GeneCards: NSD3; OMA:NSD3 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p11.23 Start 38,269,704 bp[1] End 38,382,272 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 A2 Start 26,091,617 bp[2] End 26,209,694 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pylorus epithelium of colon ganglionic eminence cardia ventricular zone entorhinal cortex caput epididymis sural nerve nipple lactiferous duct Top expressed in hand lacrimal gland superior cervical ganglion seminal vesicula otic vesicle granulocyte human fetus body of femur parotid gland otolith organ More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity protein binding metal ion binding histone-lysine N-methyltransferase activity transcription coactivator activity histone methyltransferase activity (H3-K36 specific) Cellular component nucleus nucleoplasm chromosome chromatin Biological process histone methylation methylation regulation of transcription, DNA-templated transcription, DNA-templated histone lysine methylation chromatin organization positive regulation of transcription, DNA-templated positive regulation of histone H3-K36 trimethylation histone H3-K36 methylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54904 234135 Ensembl ENSG00000147548 ENSMUSG00000054823 UniProt Q9BZ95 Q6P2L6 RefSeq (mRNA) NM_017778 NM_023034 NM_001001735 NM_001081269 NM_001308481 NM_001308482 RefSeq (protein) NP_060248 NP_075447 NP_001001735 NP_001074738 NP_001295410 NP_001295411 Location (UCSC) Chr 8: 38.27 – 38.38 Mb Chr 8: 26.09 – 26.21 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

This gene is related to the Wolf–Hirschhorn syndrome candidate-1 gene (NSD2) and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described.^[6]

The NSD3 gene is amplified in several cancers, including lung cancer and head and neck cancer, and may play a role in carcinogenesis.^[7][8]