NSD3 (nuclear receptor binding SET domain protein 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54904
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear receptor binding SET domain protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NSD3
Synonyms (NCBI Gene) Gene synonyms aliases
KMT3F, KMT3G, WHISTLE, WHSC1L1, pp14328
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p11.23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT651566 hsa-miR-4635 HITS-CLIP 23824327
MIRT651565 hsa-miR-526b-5p HITS-CLIP 23824327
MIRT651564 hsa-miR-203a-3p HITS-CLIP 23824327
MIRT651563 hsa-miR-7158-3p HITS-CLIP 23824327
MIRT651562 hsa-miR-203b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0005515 Function Protein binding IPI 21516116, 21555454, 23455924, 25416956, 25640309, 29176719, 31527615, 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IC 16682010
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607083 12767 ENSG00000147548
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BZ95
Protein name Histone-lysine N-methyltransferase NSD3 (EC 2.1.1.370) (EC 2.1.1.371) (Nuclear SET domain-containing protein 3) (Protein whistle) (WHSC1-like 1 isoform 9 with methyltransferase activity to lysine) (Wolf-Hirschhorn syndrome candidate 1-like protein 1) (WHS
Protein function Histone methyltransferase. Preferentially dimethylates 'Lys-4' and 'Lys-27' of histone H3 forming H3K4me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for tran
PDB 2DAQ , 2NCZ , 2ND1 , 4GND , 4GNE , 4GNF , 4GNG , 4RXJ , 5UPD , 6CEN , 6G24 , 6G25 , 6G27 , 6G29 , 6G2B , 6G2C , 6G2E , 6G2F , 6G2O , 6G3P , 6G3T , 7CRP , 7CRQ , 7CRR , 7JYN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00855 PWWP 268 → 380 PWWP domain Domain
PF00855 PWWP 958 → 1049 PWWP domain Domain
PF17907 AWS 1104 → 1142 AWS domain Domain
PF00856 SET 1156 → 1262 SET domain Family
PF17982 C5HCH 1364 → 1413 NSD Cys-His rich domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung. {ECO:0000269|PubMed:11374904}.
Sequence 
MDFSFSFMQGIMGNTIQQPPQLIDSANIRQEDAFDNNSDIAEDGGQTPYEATLQQGFQYP
ATTEDLPPLTNGYPSSISVYETQTKYQSYNQYPNGSANGFGAVRNFSPTDYYHSEIPNTR
PHEILEKPSPPQPPPPPSVPQTVIPKKTGSPEIKLKITKTIQNGRELFESSLCGDLLNEV
QASEHTKSKHESRKEKRKKSNKHDSSRSEERKSHKIPKLEPEEQNRPNERVDTVSEKPRE
EPVLKEEAPVQPILSSVPTTEVSTGVKFQVGDLVWSKVGTYPWWPCMVSSDPQLEVHTKI
NTRGAREYHVQFFSNQPERAWVHEKRVREYKGHKQYEELLAEATKQASNHSEKQKIRKPR
PQRERAQWDIGIAHAEKALKMTREERIEQYTFIYIDKQPEEALSQAKKSVASKTEVKKTR
RPRSVLNTQPEQTNAGEVASSLSSTEIRRHSQRRHTSAEEEEPPPVKIAWKTAAARKSLP
ASITMHKGSLDLQKCNMSPVVKIEQVFALQNATGDGKFIDQFVYSTKGIGNKTEISVRGQ
DRLIISTPNQRNEKPTQSVSSPEATSGSTGSVEKKQQRRSIRTRSESEKSTEVVPKKKIK
KEQVETVPQATVKTGLQKGASEISDSCKPLKKRSRASTDVEMTSSAYRDTSDSDSRGLSD
LQVGFGKQVDSPSATADADVSDVQSMDSSLSRRGTGMSKKDTVCQICESSGDSLIPCEGE
CCKHFHLECLGLASLPDSKFICMECKTGQHPCFSCKVSGKDVKRCSVGACGKFYHEACVR
KFPTAIFESKGFRCPQHCCSACSMEKDIHKASKGRMMRCLRCPVAYHSGDACIAAGSMLV
SSYILICSNHSKRSSNSSAVNVGFCFVCARGLIVQDHSDPMFSSYAYKSHYLLNESNRAE
LMKLPMIPSSSASKKKCEKGGRLLCCESCPASFHPECLSIEMPEGCWNCNDCKAGKKLHY
KQIVWVKLGNYRWWPAEICNPRSVPLNIQGLKHDLGDFPVFFFGSHDYYWVHQGRVFPYV
EGDKSFAEGQTSINKTFKKALEEAAKRFQELKAQRESKEALEIEKNSRKPPPYKHIKANK
VIGKVQIQVADLSEIPRCNCKPADENPCGLESECLNRMLQYECHPQVCPAGDRCQNQCFT
KRLYPDAEIIKTERRGWGLRTKRSIKKGEFVNEYVGELIDEEECRLRIKRAHENSVTNFY
MLTVTKDRIIDAGPKGNYSRFMNHSCNPNCETQKWTVNGDVRVGLFALCDIPAGMELTFN
YNLDCLGNGRTECHCGADNCSGFLGVRPKSACASTNEEKAKNAKLKQKRRKIKTEPKQMH
EDYCFQCGDGGELVMCDKKDCPKAYHLLCLNLTQPPYGKWECPWHQCDECSSAAVSFCEF
CPHSFCKDHEKGALVPSALEGRLCCSEHDPMAPVSPEYWSKIKCKWESQDHGEEVKE
Sequence length 1437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Lysine degradation
Metabolic pathways 		  PKMTs methylate histone lysines
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 21666749
Breast Neoplasms Associate 20940404, 27005559
Carcinoma Non Small Cell Lung Associate 15983384
Carcinoma Pancreatic Ductal Associate 15983384
Carcinoma Squamous Cell Associate 15983384, 21666749, 34358469
Encephalitis Herpes Simplex Associate 33361816
Head and Neck Neoplasms Associate 28102297
Leukemia Myeloid Acute Associate 11986249, 35303440
Midline brainstem cleft Associate 33891143
Midline granulomatosis Associate 24875858