Gene

kmt2a

ID
ZDB-GENE-080521-3
Name
lysine (K)-specific methyltransferase 2A
Symbol
kmt2a Nomenclature History
Previous Names
  • mll
  • im:7148357
Type
protein_coding_gene
Location
Chr: 15 Mapping Details/Browsers
Description
Predicted to enable histone H3K4 methyltransferase activity. Acts upstream of or within glial cell development; nucleate erythrocyte development; and paraxial mesoderm development. Predicted to be located in nucleus. Predicted to be part of histone methyltransferase complex. Is expressed in several structures, including blastoderm; blastodisc; intermediate cell mass of mesoderm; nervous system; and renal system. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; myelofibrosis; and non-Hodgkin lymphoma. Orthologous to human KMT2A (lysine methyltransferase 2A).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
ihb506Allele with one deletionExon 1UnknownTALEN
ihb507Allele with one deletionExon 5UnknownCRISPR
sa137Allele with one point mutationUnknownPremature StopENU
sa2815Allele with one point mutationUnknownPremature StopENU
sa10905Allele with one point mutationUnknownPremature StopENU
sa19111Allele with one point mutationUnknownPremature StopENU
sa22638Allele with one point mutationUnknownPremature StopENU
sa24984Allele with one point mutationUnknownPremature StopENU
sa35881Allele with one point mutationUnknownSplice SiteENU
sa42541Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
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Human Disease
Associated With kmt2a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Wiedemann-Steiner syndrome 605130
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Associated With kmt2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR003888 FY-rich, N-terminal
Conserved_site IPR003889 FY-rich, C-terminal
Domain IPR001214 SET domain
Domain IPR001487 Bromodomain
Domain IPR001965 Zinc finger, PHD-type
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Domain Details Per Protein
Protein Length Bromodomain Bromodomain-like superfamily Extended PHD (ePHD) domain FY-rich, C-terminal FY-rich, N-terminal KMT2A, ePHD domain KMT2A, PHD domain 1 KMT2A, PHD domain 2 KMT2A, PHD domain 3 Methyltransferase, trithorax Post-SET domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain SET domain SET domain superfamily Zinc finger, CXXC-type Zinc finger, FYVE/PHD-type Zinc finger, PHD-finger Zinc finger, PHD-type Zinc finger, RING/FYVE/PHD-type
UniProtKB:F1QL52 4219
UniProtKB:A8VKP8 4218
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 15
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA kmt2a-201 (1) Ensembl 12,831 nt
mRNA kmt2a-202 (1) Ensembl 13,967 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-195H14
EncodesESTIMAGE:7148357Thisse et al., 2004
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanKMT2A11
Amino acid sequence comparison (3)
Conserved genome location (synteny) (2)
MouseKmt2a9
Conserved genome location (synteny) (1)
Amino acid sequence comparison (3)
Citations
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