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.	55904
Gene name Gene Name - the full gene name approved by the HGNC.	Lysine methyltransferase 2E (inactive)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KMT2E
Synonyms (NCBI Gene) Gene synonyms aliases	HDCMC04P, MLL5, NKp44L, ODLURO, SETD5B
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptiona

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74375534	G>A,T	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs186916831	C>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1554394210	T>C	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1562927768	AAAGA>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562928193	->TA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562931936	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1584751177	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584796761	G>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584802161	C>-	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584802744	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584803713	ACTA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584803745	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1584803942	A>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1584805072	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584807827	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584808269	TA>-	Likely-pathogenic	Stop gained, inframe indel, coding sequence variant, non coding transcript variant

Show/Hide all(6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017069	hsa-miR-335-5p	Microarray	18185580
MIRT036034	hsa-miR-1301-3p	CLASH	23622248
MIRT727181	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727180	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727178	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727179	hsa-miR-181d-5p	HITS-CLIP	22473208

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	23798402
GO:0000791	Component	Euchromatin	IDA	23798402
GO:0002446	Process	Neutrophil mediated immunity	IEA
GO:0002446	Process	Neutrophil mediated immunity	ISS
GO:0003713	Function	Transcription coactivator activity	IDA	23629655
GO:0005515	Function	Protein binding	IPI	21423215, 23629655, 23958951, 32296183
GO:0005634	Component	Nucleus	IDA	23629655, 26678539
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0019899	Function	Enzyme binding	IPI	23629655, 26678539
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0032991	Component	Protein-containing complex	IDA	23629655, 26678539
GO:0034967	Component	Set3 complex	IBA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	ISS
GO:0042119	Process	Neutrophil activation	IEA
GO:0042119	Process	Neutrophil activation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	23629655
GO:0046872	Function	Metal ion binding	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0070210	Component	Rpd3L-Expanded complex	IBA
GO:0140002	Function	Histone H3K4me3 reader activity	IDA	24130829
GO:0140002	Function	Histone H3K4me3 reader activity	IMP	23798402
GO:0140938	Function	Histone H3 methyltransferase activity	IDA	27812132
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	23629655

MIM	HGNC	e!Ensembl
608444	18541	ENSG00000005483

Protein

UniProt ID

Q8IZD2

Protein name

Inactive histone-lysine N-methyltransferase 2E (Inactive lysine N-methyltransferase 2E) (Myeloid/lymphoid or mixed-lineage leukemia protein 5)

Protein function

Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:23798402, PubMed:24130829). Chromatin interaction is mediated via the binding to tri-methy

PDB

2LV9 , 4L58 , 5HT6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00628	PHD	120 → 166	PHD-finger	Domain
PF00856	SET	155 → 447	SET domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in both adult and fetal tissues (PubMed:12101424, PubMed:23958951). Highest levels of expression observed in fetal thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum (PubMed:12101424, PubMed:2

Sequence

MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLP
YADHNYGARPPPTPPASPPPSVLISKNEVGIFTTPNFDETSSATTISTSEDGSYGTDVTR
CICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRK
RENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISK
CKKAFREGSRKSSRVKGSAPEIDPSSDGSNFGWETKIKAWMDRYEEANNNQYSEGVQREA
QRIALRLGNGNDKKEMNKSDLNTNNLLFKPPVESHIQKNKKILKSAKDLPPDALIIEYRG
KFMLREQFEANGYFFKRPYPFVLFYSKFHGLEMCVDARTFGNEARFIRRSCTPNAEVRHE
IQDGTIHLYIYSIHSIPKGTEITIAFDFDYGNCKYKVDCACLKENPECPVLKRSSESMEN
INSGYETRRKKGKKDKDISKEKDTQNQNITLDCEGTTNKMKSPETKQRKLSPLRLSVSNN
QEPDFIDDIEEKTPISNEVEMESEEQIAERKRKMTREERKMEAILQAFARLEKREKRREQ
ALERISTAKTEVKTECKDTQIVSDAEVIQEQAKEENASKPTPAKVNRTKQRKSFSRSRTH
IGQQRRRHRTVSMCSDIQPSSPDIEVTSQQNDIENTVLTIEPETETALAEIITETEVPAL
NKCPTKYPKTKKHLVNEWLSEKNEKTGKPSDGLSERPLRITTDPEVLATQLNSLPGLTYS
PHVYSTPKHYIRFTSPFLSEKRRRKEPTENISGSCKKRWLKQALEEENSAILHRFNSPCQ
ERSRSPAVNGENKSPLLLNDSCSLPDLTTPLKKRRFYQLLDSVYSETSTPTPSPYATPTH
TDITPMDPSFATPPRIKSDDETCRNGYKPIYSPVTPVTPGTPGNTMHFENISSPESSPEI
KRRTYSQEGYDRSSTMLTLGPFRNSNLTELGLQEIKTIGYTSPRSRTEVNRQCPGEKEPV
SDLQLGLDAVEPTALHKTLETPAHDRAEPNSQLDSTHSGRGTMYSSWVKSPDRTGVNFSV
NSNLRDLTPSHQLEVGGGFRISESKCLMQDDTRGMFMETTVFCTSEDGLVSGFGRTVNDN
LIDGNCTPQNPPQKKKVSLLEYRKRQREARKSGSKTENFPLISVSPHASGSLSNNGDGCA
SSNDNGEQVDHTASLPLPTPATVYNATSEETSNNCPVKDATASEKNEPEVQWTASTSVEQ
VRERSYQRALLLSDHRKDKDSGGESPCVSCSPSHVQSSPSSHSNHIPQLQAKGPVPSFSE
LMEDPDPENPEPTTTNECPSPDTSQNTCKSPPKMSKPGSPGSVIPAQAHGKIFTKPDPQW
DSTVSASEAENGVHLKTELQQKQLSNNNQALSKNHPPQTHVRNSSEQLSQKLPSVPTKLH
CPPSPHLENPPKSSTPHTPVQHGYLSPKPPSQQLGSPYRPHHSQSPQVGTPQREPQRNFY
PAAQNLPANTQQATSGTLFTQTPSGQSSATYSQFNQQSLNSTAPPPPPPPPPSSSYYQNQ
QPSANFQNYNQLKGSLSQQTVFTSGPNQALPGTTSQQTVPGHHVTPGHFLPSQNPTIHHQ
TAAAVVPPPPPPPPAPGPHLVQQPNSHQQHSVAHVVGPVHAVTPGSHIHSQTAGHHLPPP
PPPPGPAPHHHPPPHPSTGLQGLQAQHQHVVNSAPPPPPPPPPSSVLASGHHTTSAQALH
HPPHQGPPLFPSSAHPTVPPYPSQATHHTTLGPGPQHQPSGTGPHCPLPVTGPHLQPQGP
NSIPTPTASGFCPHPGSVALPHGVQGPQQASPVPGQIPIHRAQVPPTFQNNYHGSGWH

Sequence length

1858

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 (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	intellectual disability	rs1562928193	N/A

Show/Hide Unknown Diseases (4)

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.
Dyslexia	Dyslexia	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	26678539
Autism Spectrum Disorder	Associate	25284784
Autistic Disorder	Associate	31079897
Brain Diseases	Associate	31079897
COVID 19	Associate	33936072
Developmental Disabilities	Associate	31079897, 34321323, 38453051, 39709003
Ectrodactyly	Associate	29447242
Epilepsy	Associate	31079897
Epilepsy Generalized	Associate	39709003
Fetal Alcohol Spectrum Disorders	Associate	31079897
HIV Infections	Associate	29447242
Intellectual Disability	Associate	31079897
Leukemia Promyelocytic Acute	Associate	24796963, 33824267
Megalencephaly	Associate	34321323
Microcephaly	Associate	31079897
Neoplasms	Inhibit	20439461
Neoplasms	Associate	23958951, 26678539, 33050986
O'Donnell Pappas syndrome	Associate	34321323, 39709003
Prostatic Neoplasms	Associate	33050986

KMT2E (lysine methyltransferase 2E (inactive))