Gene

kmt2d

ID
ZDB-GENE-060223-2
Name
lysine (K)-specific methyltransferase 2D
Symbol
kmt2d Nomenclature History
Previous Names
  • mll2
  • im:7157663
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Predicted to enable histone binding activity; histone methyltransferase activity (H3-K4 specific); and transcription coactivator activity. Acts upstream of or within animal organ development and convergent extension involved in gastrulation. Predicted to be located in nucleus. Predicted to be part of MLL3/4 complex. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in Kabuki syndrome and esophagus squamous cell carcinoma. Orthologous to human KMT2D (lysine methyltransferase 2D).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
17 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With kmt2d Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Kabuki syndrome Alliance Kabuki syndrome 1 147920
Associated With kmt2d Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001214 SET domain
Domain IPR001841 Zinc finger, RING-type
Domain IPR001965 Zinc finger, PHD-type
Domain IPR003616 Post-SET domain
Domain IPR003888 FY-rich, N-terminal
Domain IPR003889 FY-rich, C-terminal
Domain IPR019787 Zinc finger, PHD-finger
Domain IPR034732 Extended PHD (ePHD) domain
Family IPR037877 Histone-lysine N-methyltransferase 2C
Family IPR037890 Histone-lysine N-methyltransferase 2D
Homologous_superfamily IPR011011 Zinc finger, FYVE/PHD-type
Homologous_superfamily IPR013083 Zinc finger, RING/FYVE/PHD-type
Domain Details Per Protein
Protein Length Extended PHD (ePHD) domain FY-rich, C-terminal FY-rich, N-terminal Histone-lysine N-methyltransferase 2C Histone-lysine N-methyltransferase 2D Post-SET domain SET domain Zinc finger, FYVE/PHD-type Zinc finger, PHD-finger Zinc finger, PHD-type Zinc finger, RING/FYVE/PHD-type Zinc finger, RING-type
UniProtKB:F1R733 235
UniProtKB:E9QF90 368
UniProtKB:F1R3T7 461
UniProtKB:F1R7I1 308
UniProtKB:E7F2F7 3325
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations