KMT2A lysine methyltransferase 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: KMT2Aprovided by HGNC
Official Full Name: lysine methyltransferase 2Aprovided by HGNC
Primary source: HGNC:HGNC:7132
See related: Ensembl:ENSG00000118058 MIM:159555; AllianceGenome:HGNC:7132
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HRX; MLL; ALL1; GAS7; HTRX; MLL1; TRX1; ALL-1; CXXC7; HTRX1; MLL1A; WDSTS
Summary: This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
Expression: Ubiquitous expression in ovary (RPKM 12.8), lymph node (RPKM 6.8) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 11q23.3

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (118436492..118526832)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (118455794..118546121)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (118307207..118397547)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DDB2 promotes melanoma cell growth by transcriptionally regulating the expression of KMT2A and predicts a poor prognosis.
Title: DDB2 promotes melanoma cell growth by transcriptionally regulating the expression of KMT2A and predicts a poor prognosis.
KMT2A and chronic inflammation as potential drivers of sporadic parathyroid adenoma.
Title: KMT2A and chronic inflammation as potential drivers of sporadic parathyroid adenoma.
MLL-AF9 regulates transcriptional initiation in mixed lineage leukemic cells.
Title: MLL-AF9 regulates transcriptional initiation in mixed lineage leukemic cells.
Transcription of CLDND1 in human brain endothelial cells is regulated by the myeloid zinc finger 1.
Title: Transcription of CLDND1 in human brain endothelial cells is regulated by the myeloid zinc finger 1.
Multilineage involvement in KMT2A-rearranged B acute lymphoblastic leukaemia: cell-of-origin, biology, and clinical implications.
Title: Multilineage involvement in KMT2A-rearranged B acute lymphoblastic leukaemia: cell-of-origin, biology, and clinical implications.
The Core Complex of Yeast COMPASS and Human Mixed-Lineage Leukemia (MLL), Structure, Function, and Recognition of the Nucleosome.
Title: The Core Complex of Yeast COMPASS and Human Mixed-Lineage Leukemia (MLL), Structure, Function, and Recognition of the Nucleosome.
Distinct Responses to Menin Inhibition and Synergy with DOT1L Inhibition in KMT2A-Rearranged Acute Lymphoblastic and Myeloid Leukemia.
Title: Distinct Responses to Menin Inhibition and Synergy with DOT1L Inhibition in KMT2A-Rearranged Acute Lymphoblastic and Myeloid Leukemia.
Regulation of cytokine and chemokine expression by histone lysine methyltransferase MLL1 in rheumatoid arthritis synovial fibroblasts.
Title: Regulation of cytokine and chemokine expression by histone lysine methyltransferase MLL1 in rheumatoid arthritis synovial fibroblasts.
Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population.
Title: Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population.
Epigenetic drug screening for trophoblast syncytialization reveals a novel role for MLL1 in regulating fetoplacental growth.
Title: Epigenetic drug screening for trophoblast syncytialization reveals a novel role for MLL1 in regulating fetoplacental growth.

Submit: New GeneRIF Correction See all GeneRIFs (485)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Wiedemann-Steiner syndrome MedGen: C1854630 OMIM: 605130 GeneReviews: Wiedemann-Steiner Syndrome	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-05-23) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2018-05-23) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
integrase	gag-pol	The IN catalytic core domain has a higher binding affinity (Kd) for PSIP1 (LEDGF/p75) than the physiological binding partner, KMT2A (MML1)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

Mll1 (e-PCR), detects polymorphism
- UniSTS:143875

RH16534 (e-PCR)
- UniSTS:29962

RH65355 (e-PCR)
- UniSTS:43284

RH44274 (e-PCR)
- UniSTS:81943

NoName (e-PCR)
- UniSTS:484385

STS-AA009746 (e-PCR)
- UniSTS:37172

STS-H92945 (e-PCR)
- UniSTS:38205

STS-T67449 (e-PCR)
- UniSTS:14186

MLL1 (e-PCR)
- UniSTS:19861

MARC_12741-12742:1029349377:1 (e-PCR)
- UniSTS:267437

PMC56962P1 (e-PCR)
- UniSTS:273362

RH48277 (e-PCR)
- UniSTS:54248

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables histone H3K4 methyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables histone H3K4 methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone H3K4 methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone H3K4 methyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables histone H3K4 methyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone H3K4 monomethyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3K4 trimethyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lysine-acetylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables minor groove of adenine-thymine-rich DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-cysteine methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables unmethylated CpG binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T-helper 2 cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in definitive hemopoiesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic hemopoiesis	TAS Traceable Author Statement more info	PubMed
involved_in exploration behavior	IEA Inferred from Electronic Annotation more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	IEA Inferred from Electronic Annotation more info
involved_in methylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA methylation-dependent heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in protein modification process	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of short-term neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in response to potassium ion	IEA Inferred from Electronic Annotation more info
involved_in spleen development	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation-coupled chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription initiation-coupled chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of MLL1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MLL1 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
part_of histone methyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of histone methyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: histone-lysine N-methyltransferase 2A

Names: Acute lymphocytic 1; CXXC-type zinc finger protein 7; lysine (K)-specific methyltransferase 2A; lysine N-methyltransferase 2A; mixed lineage leukemia 1; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); trithorax-like protein; zinc finger protein HRX

NP_001184033.1

EC 2.1.1.364

NP_001399526.1

EC 2.1.1.364

NP_005924.2

EC 2.1.1.364

XP_006718902.2

EC 2.1.1.364

XP_011541131.1

EC 2.1.1.364

XP_011541132.1

EC 2.1.1.364

XP_011541135.1

EC 2.1.1.364

XP_047282919.1

EC 2.1.1.364

XP_047282920.1

EC 2.1.1.364

XP_054224805.1

EC 2.1.1.364

XP_054224806.1

EC 2.1.1.364

XP_054224807.1

EC 2.1.1.364

XP_054224808.1

EC 2.1.1.364

XP_054224809.1

EC 2.1.1.364

XP_054224810.1

EC 2.1.1.364

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027813.1 RefSeqGene

Range

5001..95335

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_613

mRNA and Protein(s)

NM_001197104.2 → NP_001184033.1 histone-lysine N-methyltransferase 2A isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.

Source sequence(s)

AI500057, AP000941, AP001267, BC065385, D14540, L04731

Consensus CDS

CCDS55791.1

UniProtKB/TrEMBL

A0A8I5KXR3

Related

ENSP00000436786.2, ENST00000534358.8

Conserved Domains (9) summary

cd05493
Location:1650 → 1780

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:3672 → 3755

FYRC; FY-rich domain, C-terminal region

cd15588
Location:1433 → 1479

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:1481 → 1530

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:1568 → 1627

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1874 → 1986

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam02008
Location:1147 → 1194

zf-CXXC; CXXC zinc finger domain

pfam05964
Location:2027 → 2074

FYRN; F/Y-rich N-terminus

cd19170
Location:3819 → 3972

SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
NM_001412597.1 → NP_001399526.1 histone-lysine N-methyltransferase 2A isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

AP000941, AP001267

UniProtKB/TrEMBL

A0A8I5KXR3, A0AA34QVI8

Related

ENSP00000518343.1, ENST00000710560.1
NM_005933.4 → NP_005924.2 histone-lysine N-methyltransferase 2A isoform 2 precursor

See identical proteins and their annotated locations for NP_005924.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 3. This results in a shorter protein (isoform 2), compared to isoform 3.

Source sequence(s)

AB209508, AP000941, AP001267, BC065385, D14540

Consensus CDS

CCDS31686.1

UniProtKB/Swiss-Prot

E9PQG7, Q03164, Q13743, Q13744, Q14845, Q16364, Q59FF2, Q6UBD1, Q9HBJ3, Q9UD94, Q9UMA3

UniProtKB/TrEMBL

A0A8I5KXR3

Related

ENSP00000374157.5, ENST00000389506.10

Conserved Domains (11) summary

cd05493
Location:1647 → 1777

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:3669 → 3752

FYRC; FY-rich domain, C-terminal region

smart00317
Location:3831 → 3951

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

smart00508
Location:3953 → 3969

PostSET; Cysteine-rich motif following a subset of SET domains

COG2940
Location:3825 → 3969

SET; SET domain-containing protein (function unknown) [General function prediction only]

pfam02008
Location:1147 → 1194

zf-CXXC; CXXC zinc finger domain

cd15588
Location:1433 → 1479

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:1481 → 1530

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:1568 → 1624

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1871 → 1983

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam05964
Location:2025 → 2071

FYRN; F/Y-rich N-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

118436492..118526832

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542829.3 → XP_011541131.1 histone-lysine N-methyltransferase 2A isoform X1

UniProtKB/TrEMBL

A0A8I5KXR3, E9PR05

Related

ENSP00000432391.3, ENST00000531904.7

Conserved Domains (11) summary

cd05493
Location:1683 → 1813

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:3705 → 3788

FYRC; FY-rich domain, C-terminal region

smart00317
Location:3867 → 3987

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

smart00508
Location:3989 → 4005

PostSET; Cysteine-rich motif following a subset of SET domains

COG2940
Location:3861 → 4005

SET; SET domain-containing protein (function unknown) [General function prediction only]

pfam02008
Location:1180 → 1227

zf-CXXC; CXXC zinc finger domain

cd15588
Location:1466 → 1512

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:1514 → 1563

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:1601 → 1660

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1907 → 2019

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam05964
Location:2061 → 2107

FYRN; F/Y-rich N-terminus
XM_011542830.3 → XP_011541132.1 histone-lysine N-methyltransferase 2A isoform X2

UniProtKB/TrEMBL

A0A8I5KXR3

Conserved Domains (11) summary

cd05493
Location:1682 → 1812

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:3704 → 3787

FYRC; FY-rich domain, C-terminal region

smart00317
Location:3866 → 3986

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

smart00508
Location:3988 → 4004

PostSET; Cysteine-rich motif following a subset of SET domains

COG2940
Location:3860 → 4004

SET; SET domain-containing protein (function unknown) [General function prediction only]

pfam02008
Location:1180 → 1227

zf-CXXC; CXXC zinc finger domain

cd15588
Location:1466 → 1512

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:1514 → 1562

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:1600 → 1659

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1906 → 2018

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam05964
Location:2060 → 2106

FYRN; F/Y-rich N-terminus
XM_047426963.1 → XP_047282919.1 histone-lysine N-methyltransferase 2A isoform X3

UniProtKB/TrEMBL

A0A8I5KXR3
XM_011542833.3 → XP_011541135.1 histone-lysine N-methyltransferase 2A isoform X4

Conserved Domains (11) summary

cd05493
Location:844 → 974

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:2866 → 2949

FYRC; FY-rich domain, C-terminal region

smart00317
Location:3028 → 3148

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

smart00508
Location:3150 → 3166

PostSET; Cysteine-rich motif following a subset of SET domains

COG2940
Location:3014 → 3166

SET; SET domain-containing protein (function unknown) [General function prediction only]

pfam02008
Location:341 → 388

zf-CXXC; CXXC zinc finger domain

cd15588
Location:627 → 673

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:675 → 724

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:762 → 821

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1068 → 1180

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam05964
Location:1222 → 1268

FYRN; F/Y-rich N-terminus
XM_006718839.4 → XP_006718902.2 histone-lysine N-methyltransferase 2A isoform X5

Conserved Domains (11) summary

cd05493
Location:811 → 941

Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...

smart00542
Location:2833 → 2916

FYRC; FY-rich domain, C-terminal region

smart00317
Location:2995 → 3115

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

smart00508
Location:3117 → 3133

PostSET; Cysteine-rich motif following a subset of SET domains

COG2940
Location:2981 → 3133

SET; SET domain-containing protein (function unknown) [General function prediction only]

pfam02008
Location:308 → 355

zf-CXXC; CXXC zinc finger domain

cd15588
Location:594 → 640

PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15590
Location:642 → 691

PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15592
Location:729 → 788

PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)

cd15693
Location:1035 → 1147

ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)

pfam05964
Location:1189 → 1235

FYRN; F/Y-rich N-terminus
XM_047426964.1 → XP_047282920.1 histone-lysine N-methyltransferase 2A isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

118455794..118546121

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368830.1 → XP_054224805.1 histone-lysine N-methyltransferase 2A isoform X1

UniProtKB/TrEMBL

A0A8I5KXR3, E9PR05
XM_054368831.1 → XP_054224806.1 histone-lysine N-methyltransferase 2A isoform X2

UniProtKB/TrEMBL

A0A8I5KXR3
XM_054368832.1 → XP_054224807.1 histone-lysine N-methyltransferase 2A isoform X3

UniProtKB/TrEMBL

A0A8I5KXR3
XM_054368833.1 → XP_054224808.1 histone-lysine N-methyltransferase 2A isoform X4
XM_054368834.1 → XP_054224809.1 histone-lysine N-methyltransferase 2A isoform X5
XM_054368835.1 → XP_054224810.1 histone-lysine N-methyltransferase 2A isoform X6