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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9757
Gene name Gene Name - the full gene name approved by the HGNC.	Lysine methyltransferase 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KMT2B
Synonyms (NCBI Gene) Gene synonyms aliases	CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2, WBP-7, WBP7
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.	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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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dystonia	dystonia 28, childhood-onset, Dystonic disorder	rs1057519282, rs1599679995, rs1057519283, rs1599680351, rs1057519284, rs1459799356, rs1555727493, rs1599687853, rs763183959, rs1599676503, rs1555731819, rs1599665134, rs1555731976, rs1057519278, rs1568379151 View all (7 more)	N/A
Developmental Delay	global developmental delay	rs748888652	N/A
Intellectual Developmental Disorder	Intellectual developmental disorder, autosomal dominant 68	rs1599665134	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
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.
Kabuki Syndrome	Kabuki syndrome 1	N/A	N/A	ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder with motor features	N/A	N/A	GenCC
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (76)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)