Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA	21873635
GO:0005515	Function	Protein binding	IPI	21516116, 21555454, 23455924, 25416956, 25640309, 29176719, 31527615, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IC	16682010
GO:0005634	Component	Nucleus	IMP	21555454
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of transcription, DNA-templated	IBA	21873635
GO:0010452	Process	Histone H3-K36 methylation	IEA
GO:0016571	Process	Histone methylation	IDA	16682010
GO:0018024	Function	Histone-lysine N-methyltransferase activity	IDA	16682010
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	21555454
GO:0046872	Function	Metal ion binding	IEA
GO:0046975	Function	Histone methyltransferase activity (H3-K36 specific)	IBA	21873635
GO:0140537	Function	Transcription regulator activator activity	IMP	21555454
GO:2001255	Process	Positive regulation of histone H3-K36 trimethylation	IMP	21555454

MIM	HGNC	e!Ensembl
607083	12767	ENSG00000147548

Protein

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

	KEGG		Reactome
	Lysine degradation Metabolic pathways		PKMTs methylate histone lysines

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	29483656

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Neoplasms	Associate	24874471, 25435355, 26905262, 28205554, 28901481, 33361816, 34358469, 34469831, 34997561, 35303440, 37118352
Osteosarcoma	Associate	28901481
Pancreatic Neoplasms	Associate	37062069
Pressure Ulcer	Associate	33891143
Prostatic Neoplasms	Associate	30616239
Sinonasal undifferentiated carcinoma	Associate	37118352
Squamous Cell Carcinoma of Head and Neck	Associate	28102297
Thyroid Neoplasms	Associate	34997561
Urinary Bladder Neoplasms	Associate	30984543

NSD3 (nuclear receptor binding SET domain protein 3)