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 have histone binding activity; histone methyltransferase activity (H3-K4 specific); and transcription coactivator activity. Involved in animal organ development and convergent extension involved in gastrulation. Predicted to localize to 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
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
29 figures from 5 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
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 620186
Associated With kmt2d Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
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