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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9757
Gene name	Lysine methyltransferase 2B
Gene symbol	KMT2B
Synonyms (NCBI Gene)	CXXC10DYT28HRX2MLL1BMLL2MLL4MRD68TRX2WBP-7WBP7
Chromosome	19
Chromosome location	19q13.12
Summary	This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal

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SNP ID	Visualize variation	Clinical significance	Consequence
rs539483328	->C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs748888652	C>G,T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, intron variant, stop gained, genic upstream transcript variant
rs763183959	C>-,CC	Pathogenic	5 prime UTR variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs764234724	->C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs779863547	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057519278	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057519279	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs1057519280	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057519281	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant, genic upstream transcript variant
rs1057519282	->C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs1057519283	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs1057519284	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs1085307751	A>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1459799356	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1555727493	->GGCGGGCGGCGGC	Pathogenic	5 prime UTR variant, upstream transcript variant, non coding transcript variant, initiator codon variant, genic upstream transcript variant, frameshift variant
rs1555729045	C>T	Pathogenic	Stop gained, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555729827	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555730069	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555730957	C>A,T	Pathogenic, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1555731819	G>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555731832	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1555731976	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1555732564	TCCCCCCAGACGTTCCCGTCGTCCCAGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555732987	->GCACGCCTCCTTCGGGGCCAGG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555734445	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1555734923	C>T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs1568374482	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568377293	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568377563	ATG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, downstream transcript variant, genic downstream transcript variant
rs1568379151	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1599665134	->GGGCGGCGGC	Pathogenic	5 prime UTR variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1599668553	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1599669836	->AGCCC	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1599676503	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1599677213	GGGCGGG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1599679995	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1599680351	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1599687853	C>T	Likely-pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs1599689373	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1599695744	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

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Show/Hide all (224)

miRTarBase ID	miRNA	Experiments	Reference
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT536447	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT536445	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT536440	hsa-miR-5692a	PAR-CLIP	21572407
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	21572407
MIRT536435	hsa-miR-3154	PAR-CLIP	21572407
MIRT556671	hsa-miR-1224-3p	PAR-CLIP	21572407
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT536433	hsa-miR-7515	PAR-CLIP	21572407
MIRT536451	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT536447	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT536445	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT536440	hsa-miR-5692a	PAR-CLIP	21572407
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	21572407
MIRT536435	hsa-miR-3154	PAR-CLIP	21572407
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT536433	hsa-miR-7515	PAR-CLIP	21572407
MIRT536451	hsa-miR-153-3p	PAR-CLIP	22012620
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT536447	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT536445	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT536440	hsa-miR-5692a	PAR-CLIP	22012620
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	22012620
MIRT536435	hsa-miR-3154	PAR-CLIP	22012620
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	22012620
MIRT536433	hsa-miR-7515	PAR-CLIP	22012620
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	20371350
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT536447	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT536445	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT536440	hsa-miR-5692a	PAR-CLIP	20371350
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	20371350
MIRT536435	hsa-miR-3154	PAR-CLIP	20371350
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT536433	hsa-miR-7515	PAR-CLIP	20371350
MIRT536451	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT536447	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT536445	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT536440	hsa-miR-5692a	PAR-CLIP	21572407
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	21572407
MIRT536435	hsa-miR-3154	PAR-CLIP	21572407
MIRT556671	hsa-miR-1224-3p	PAR-CLIP	21572407
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT536433	hsa-miR-7515	PAR-CLIP	21572407
MIRT536451	hsa-miR-153-3p	PAR-CLIP	21572407
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT536447	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT536445	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT536440	hsa-miR-5692a	PAR-CLIP	21572407
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	21572407
MIRT536435	hsa-miR-3154	PAR-CLIP	21572407
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	21572407
MIRT536433	hsa-miR-7515	PAR-CLIP	21572407
MIRT536451	hsa-miR-153-3p	PAR-CLIP	22012620
MIRT536450	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT536449	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT536448	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT536447	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT536446	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT536445	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT536444	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT536443	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT536442	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT536441	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT536440	hsa-miR-5692a	PAR-CLIP	22012620
MIRT536439	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT536438	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT536437	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT536436	hsa-miR-6782-3p	PAR-CLIP	22012620
MIRT536435	hsa-miR-3154	PAR-CLIP	22012620
MIRT536434	hsa-miR-302a-5p	PAR-CLIP	22012620
MIRT536433	hsa-miR-7515	PAR-CLIP	22012620

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17021013, 17474147, 18840606, 19047629, 19433796, 22266653, 22665483, 23995757, 24788516, 24981860, 26886794, 27705803, 28514442, 33961781, 37725512
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	29276034
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0032259	Process	Methylation	IEA
GO:0035097	Component	Histone methyltransferase complex	IBA
GO:0035097	Component	Histone methyltransferase complex	IDA
GO:0035097	Component	Histone methyltransferase complex	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IDA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IEA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IMP	17166833
GO:0044665	Component	MLL1/2 complex	IEA
GO:0044665	Component	MLL1/2 complex	IPI	23508102
GO:0045322	Function	Unmethylated CpG binding	IDA	29276034
GO:0045322	Function	Unmethylated CpG binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0140945	Function	Histone H3K4 monomethyltransferase activity	IEA
GO:0140999	Function	Histone H3K4 trimethyltransferase activity	IEA

MIM	HGNC	e!Ensembl
606834	15840	ENSG00000272333

Q9UMN6

Protein name

Histone-lysine N-methyltransferase 2B (Lysine N-methyltransferase 2B) (EC 2.1.1.364) (Myeloid/lymphoid or mixed-lineage leukemia protein 4) (Trithorax homolog 2) (WW domain-binding protein 7) (WBP-7)

Protein function

Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K

PDB

3UVM , 4ERZ , 4PZI , 7BRE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02008	zf-CXXC	958 → 1005	CXXC zinc finger domain	Domain
PF00628	PHD	1251 → 1303	PHD-finger	Domain
PF00628	PHD	1337 → 1396	PHD-finger	Domain
PF13771	zf-HC5HC2H	1608 → 1686		Domain
PF05964	FYRN	1733 → 1780	F/Y-rich N-terminus	Family
PF05965	FYRC	2411 → 2493	F/Y rich C-terminus	Family
PF00856	SET	2586 → 2691	SET domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, periphe

Sequence

MAAAAGGGSCPGPGSARGRFPGRPRGAGGGGGRGGRGNGAERVRVALRRGGGATGPGGAE
PGEDTALLRLLGLRRGLRRLRRLWAGPRVQRGRGRGRGRGWGPSRGCVPEEESSDGESDE
EEFQGFHSDEDVAPSSLRSALRSQRGRAPRGRGRKHKTTPLPPPRLADVAPTPPKTPARK
RGEEGTERMVQALTELLRRAQAPQAPRSRACEPSTPRRSRGRPPGRPAGPCRRKQQAVVV
AEAAVTIPKPEPPPPVVPVKHQTGSWKCKEGPGPGPGTPRRGGQSSRGGRGGRGRGRGGG
LPFVIKFVSRAKKVKMGQLSLGLESGQGQGQHEESWQDVPQRRVGSGQGGSPCWKKQEQK
LDDEEEEKKEEEEKDKEGEEKEERAVAEEMMPAAEKEEAKLPPPPLTPPAPSPPPPLPPP
STSPPPPLCPPPPPPVSPPPLPSPPPPPAQEEQEESPPPVVPATCSRKRGRPPLTPSQRA
EREAARAGPEGTSPPTPTPSTATGGPPEDSPTVAPKSTTFLKNIRQFIMPVVSARSSRVI
KTPRRFMDEDPPKPPKVEVSPVLRPPITTSPPVPQEPAPVPSPPRAPTPPSTPVPLPEKR
RSILREPTFRWTSLTRELPPPPPAPPPPPAPSPPPAPATSSRRPLLLRAPQFTPSEAHLK
IYESVLTPPPLGAPEAPEPEPPPADDSPAEPEPRAVGRTNHLSLPRFAPVVTTPVKAEVS
PHGAPALSNGPQTQAQLLQPLQALQTQLLPQALPPPQPQLQPPPSPQQMPPLEKARIAGV
GSLPLSGVEEKMFSLLKRAKVQLFKIDQQQQQKVAASMPLSPGGQMEEVAGAVKQISDRG
PVRSEDESVEAKRERPSGPESPVQGPRIKHVCRHAAVALGQARAMVPEDVPRLSALPLRD
RQDLATEDTSSASETESVPSRSRRGKVEAAGPGGESEPTGSGGTLAHTPRRSLPSHHGKK
MRMARCGHCRGCLRVQDCGSCVNCLDKPKFGGPNTKKQCCVYRKCDKIEARKMERLAKKG
RTIVKTLLPWDSDESPEASPGPPGPRRGAGAGGPREEVVAHPGPEEQDSLLQRKSARRCV
KQRPSYDIFEDSDDSEPGGPPAPRRRTPRENELPLPEPEEQSRPRKPTLQPVLQLKARRR
LDKDALAPGPFASFPNGWTGKQKSPDGVHRVRVDFKEDCDLENVWLMGGLSVLTSVPGGP
PMVCLLCASKGLHELVFCQVCCDPFHPFCLEEAERPLPQHHDTWCCRRCKFCHVCGRKGR
GSKHLLECERCRHAYHPACLGPSYPTRATRKRRHWICSACVRCKSCGATPGKNWDVEWSG
DYSLCPRCTQLYEKGNYCPICTRCYEDNDYESKMMQCAQCDHWVHAKCEGLSDEDYEILS
GLPDSVLYTCGPCAGAAQPRWREALSGALQGGLRQVLQGLLSSKVVGPLLLCTQCGPDGK
QLHPGPCGLQAVSQRFEDGHYKSVHSFMEDMVGILMRHSEEGETPDRRAGGQMKGLLLKL
LESAFGWFDAHDPKYWRRSTRLPNGVLPNAVLPPSLDHVYAQWRQQEPETPESGQPPGDP
SAAFQGKDPAAFSHLEDPRQCALCLKYGDADSKEAGRLLYIGQNEWTHVNCAIWSAEVFE
ENDGSLKNVHAAVARGRQMRCELCLKPGATVGCCLSSCLSNFHFMCARASYCIFQDDKKV
FCQKHTDLLDGKEIVNPDGFDVLRRVYVDFEGINFKRKFLTGLEPDAINVLIGSIRIDSL
GTLSDLSDCEGRLFPIGYQCSRLYWSTVDARRRCWYRCRILEYRPWGPREEPAHLEAAEE
NQTIVHSPAPSSEPPGGEDPPLDTDVLVPGAPERHSPIQNLDPPLRPDSGSAPPPAPRSF
SGARIKVPNYSPSRRPLGGVSFGPLPSPGSPSSLTHHIPTVGDPDFPAPPRRSRRPSPLA
PRPPPSRWASPPLKTSPQLRVPPPTSVVTALTPTSGELAPPGPAPSPPPPEDLGPDFEDM
EVVSGLSAADLDFAASLLGTEPFQEEIVAAGAMGSSHGGPGDSSEEESSPTSRYIHFPVT
VVSAPGLAPSATPGAPRIEQLDGVDDGTDSEAEAVQQPRGQGTPPSGPGVVRAGVLGAAG
DRARPPEDLPSEIVDFVLKNLGGPGDGGAGPREESLPPAPPLANGSQPSQGLTASPADPT
RTFAWLPGAPGVRVLSLGPAPEPPKPATSKIILVNKLGQVFVKMAGEGEPVPPPVKQPPL
PPTISPTAPTSWTLPPGPLLGVLPVVGVVRPAPPPPPPPLTLVLSSGPASPPRQAIRVKR
VSTFSGRSPPAPPPYKAPRLDEDGEASEDTPQVPGLGSGGFSRVRMKTPTVRGVLDLDRP
GEPAGEESPGPLQERSPLLPLPEDGPPQVPDGPPDLLLESQWHHYSGEASSSEEEPPSPD
DKENQAPKRTGPHLRFEISSEDGFSVEAESLEGAWRTLIEKVQEARGHARLRHLSFSGMS
GARLLGIHHDAVIFLAEQLPGAQRCQHYKFRYHQQGEGQEEPPLNPHGAARAEVYLRKCT
FDMFNFLASQHRVLPEGATCDEEEDEVQLRSTRRATSLELPMAMRFRHLKKTSKEAVGVY
RSAIHGRGLFCKRNIDAGEMVIEYSGIVIRSVLTDKREKFYDGKGIGCYMFRMDDFDVVD
ATMHGNAARFINHSCEPNCFSRVIHVEGQKHIVIFALRRILRGEELTYDYKFPIEDASNK
LPCNCGAKRCRRFLN

Sequence length

2715

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		PKMTs methylate histone lysines RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

294

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Pathogenic	rs1599677213	RCV001004005
Autism	Likely pathogenic	rs1969025340	RCV001250455
Colon adenocarcinoma	Pathogenic	rs1459799356	RCV005912222
Dysarthria	Pathogenic	rs1599677213, rs1599695744	RCV001004005 RCV001004007
Dystonia 28, childhood-onset	Likely pathogenic; Pathogenic	rs2146455000, rs2146481256, rs1568384928, rs775294431, rs754806477, rs2146483064, rs2146461810, rs2146479981, rs2146434180, rs2146462970, rs2146482963, rs2513350390, rs2513333325, rs1333513923, rs2513357403 View all (30 more)	RCV001375861 RCV001526449 RCV001542502 RCV005867191 RCV001724751 RCV001775255 RCV002037089 RCV002226887 RCV002250081 RCV002251231 RCV002274466 RCV002287852 RCV002291189 RCV002468731 RCV002468732 RCV002468733 RCV003153127 RCV003388190 RCV003324629 RCV003335868 RCV003989456 RCV000415586 RCV000415516 RCV000415558 RCV000415591 RCV000415532 RCV000415564 RCV000415597 RCV000991204 RCV000578228 RCV000626041 RCV005253008 RCV000681653 RCV000853309 RCV000995570 RCV000995571 RCV000995572 RCV000995573 RCV000995574 RCV002051908 RCV001249393 RCV001090139 RCV001251193 RCV001254089 RCV001270387
Dystonic disorder	Likely pathogenic; Pathogenic	rs2146469485, rs1599676503, rs1599677213	RCV001543352 RCV001004004 RCV001004005
Generalized dystonia	Pathogenic	rs1599695744	RCV001004007
Global developmental delay	Pathogenic	rs748888652	RCV001255391
Hepatocellular carcinoma	Pathogenic	rs1459799356	RCV005912223
Intellectual developmental disorder, autosomal dominant 68	Pathogenic	rs2513323502, rs2513344818, rs2513345836, rs1555727493, rs1599665134	RCV003223503 RCV003236632 RCV003596258 RCV004796227 RCV004594240
KMT2B-related disorder	Likely pathogenic	rs2146440365, rs2513344926	RCV001795592 RCV004552572
Malignant tumor of urinary bladder	Pathogenic	rs1568374482	RCV005897329
Myoclonus	Pathogenic	rs1599677213	RCV001004005
Neoplasm	Pathogenic	rs775294431	RCV004671505
Rare genetic intellectual disability	Likely pathogenic	rs2513330269	RCV001257018
See cases	Likely pathogenic	rs2513370231	RCV003156178
Specific learning disability	Pathogenic	rs1599677213	RCV001004005

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs61351824	RCV005917078
Autism spectrum disorder	Conflicting classifications of pathogenicity	rs754558144	RCV003127374
Castleman-Kojima disease	Uncertain significance	rs1599669544	RCV000824695
Clear cell carcinoma of kidney	Benign	rs61351824, rs568211123, rs182222222	RCV005915915 RCV005923022 RCV005923722
Colorectal cancer	Benign	rs61351824	RCV005915917 RCV005917081
Dystonia, early-onset, and/or spastic paraplegia	Uncertain significance	rs1013479394	RCV005626764
Familial cancer of breast	Benign	rs61351824, rs182222222	RCV005915912 RCV005923721
Familial prostate cancer	Benign	rs568211123	RCV005923023
Gastric cancer	Conflicting classifications of pathogenicity	rs199510721	RCV005911425
Intellectual disability	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1969028425, rs1969123578, rs374075740, rs772584640, rs761455591, rs763878702, rs754812892, rs775887663, rs1450121966, rs767396615, rs11373774	RCV001251804 RCV001252549 RCV001252550 RCV001252547 RCV001251803 RCV001252548 RCV001252551 RCV001251801 RCV001251800 RCV001251802 RCV001251799
Kabuki syndrome 1	Conflicting classifications of pathogenicity	rs190929421	RCV000578140
Lymphoma	Benign	rs61351824	RCV005915918 RCV005917082
Malignant lymphoma, large B-cell, diffuse	Benign	rs73590598, rs61351824	RCV005915377 RCV005915916 RCV005917080
Malignant tumor of esophagus	Benign	rs568211123	RCV005923021
Melanoma	Benign	rs199717619	RCV005930564
Nonpapillary renal cell carcinoma	Benign	rs61351824	RCV005915914
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs56792854, rs781107977, rs231591	RCV005920025 RCV005924067 RCV005935105
Poor motor coordination	Uncertain significance	rs1555731832	RCV001004006
Sarcoma	Conflicting classifications of pathogenicity	rs376940505	RCV005935048
Thymoma	Benign	rs61351824, rs56792854, rs182222222	RCV005915920 RCV005920027 RCV005923723
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs231591, rs776595230, rs937393842	RCV005936579 RCV005936580 RCV005936611
Uterine carcinosarcoma	Benign	rs61351824, rs56792854	RCV005915919 RCV005917083 RCV005920026
Uterine corpus endometrial carcinoma	Benign	rs568211123	RCV005923024
Uveal melanoma	Benign	rs61351824	RCV005917079

Show/Hide Text Mining Associations (76)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	26655088
Adenocarcinoma	Associate	29422640
Astrocytoma	Inhibit	34296393
Body Dysmorphic Disorders	Associate	34747823
Breast Neoplasms	Associate	22697792, 25927147, 27806114
Carcinogenesis	Associate	23045699, 28390392
Carcinoid Tumor	Associate	29422640
Carcinoma Hepatocellular	Associate	23728943, 25901726, 27339696, 28361674, 30872350, 31375600, 33355042, 33557409, 34071075
Carcinoma Renal Cell	Associate	29506494
Carcinoma Squamous Cell	Associate	30885352
Cardiovascular Diseases	Associate	33126883
Cholestasis	Associate	23045699
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	23184418
Cleft Palate	Associate	22126750
Colitis Ulcerative	Associate	28524162
Congenital Abnormalities	Associate	21658225
Daneman Davy Mancer syndrome	Associate	21671394
Deglutition Disorders	Associate	36122281
Developmental Disabilities	Associate	22740433, 35415007, 39933316
Diabetes Mellitus	Associate	33995275
Disease	Associate	33150406
Dystonia	Associate	27839873, 27992417, 31731261, 32546208, 32886413, 33150406, 33446253, 34380541, 34747823, 35022352, 35041927, 35415007, 35506254, 36122281, 36445406, 37041082, 39933316 View all (2 more)
Dystonic Disorders	Associate	33150406, 34380541, 35022352, 36122281, 37041082, 37365401
Eagle syndrome	Associate	34747823
Endometrial Neoplasms	Associate	36958196
Esophageal Squamous Cell Carcinoma	Associate	29532228
Failure to Thrive	Associate	32546208
Gait Disorders Neurologic	Associate	37041082
Glioblastoma	Associate	26496030, 37974198
Glioma	Associate	26902498
Glucose Intolerance	Associate	36445406
Growth Disorders	Associate	34747823
Hepatitis B	Associate	34071075
Hereditary leiomyomatosis and renal cell cancer	Associate	32191807
Hyperkinesis	Associate	36054588
Intellectual Disability	Associate	21658225, 25405613, 34747823, 36122281
Intestinal Pseudo Obstruction	Associate	24472332
Joint Dislocations	Associate	22126750
Kabuki syndrome	Associate	20711175, 21658225, 21671394, 22126750, 22197486, 22740433, 23249737, 24472332, 25421742, 27922244, 35506254
Kidney Diseases	Associate	22126750
Kleefstra Syndrome	Associate	25405613
Leukemia	Associate	21683083, 26267306
Leukemia Large Granular Lymphocytic	Associate	29148541
Liver Neoplasms	Associate	27339696
Lymphoma B Cell Marginal Zone	Associate	25779943, 27248180
Lymphoma Extranodal NK T Cell	Associate	25980440
Lymphoma Follicular	Associate	21796119, 24162788, 27102345
Lymphoma Large B Cell Diffuse	Associate	21796119, 21804550, 22343534, 26722499, 27102345
Lymphoma Mantle Cell	Associate	24682267
Lymphoma Non Hodgkin	Associate	37341234
Medulloblastoma	Associate	22820256, 22832583
Microcephaly	Associate	34747823
Microphthalmos	Associate	25421742
Mouth Neoplasms	Associate	29037125
Muscle Spasticity	Associate	37041082
Neoplasm Metastasis	Associate	31882696
Neoplasm Metastasis	Stimulate	36594087
Neoplasms	Associate	22126750, 24121791, 24710217, 24879340, 25980440, 26371886, 26496030, 26722499, 26873401, 27095575, 29532228, 29954944, 30872350, 31882696, 34209079
Neoplasms	Stimulate	36594087
Nose Diseases	Associate	34747823
Ovarian Neoplasms	Associate	24879340, 32139151
Pancreatic Intraductal Neoplasms	Associate	28776573
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	25595890
Right sided bronchial isomerism	Associate	24472332
Sarcoma	Associate	31882696
Seizures	Associate	27922244
Signs and Symptoms	Associate	27839873
Squamous Cell Carcinoma of Head and Neck	Associate	25275298, 27095575
Stomach Neoplasms	Associate	33126883, 40149431
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	32853382
Thymoma	Associate	37749819
Thymus Neoplasms	Associate	37749819
Torticollis	Associate	27992417
Urinary Bladder Neoplasms	Associate	34793662
Uterine Cervical Neoplasms	Associate	28390392, 36594087
Waldenstrom Macroglobulinemia	Associate	34462944

KMT2B (lysine methyltransferase 2B)