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Gene

kmt2ca

ID
ZDB-GENE-080520-3
Name
lysine (K)-specific methyltransferase 2Ca
Symbol
kmt2ca Nomenclature History
Previous Names
  • mll3a
  • si:ch211-244o18.1
  • si:ch211-244o18.2
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to enable histone binding activity; histone methyltransferase activity (H3-K4 specific); and transcription coactivator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within chromatin organization and methylation. Predicted to be located in nucleus. Predicted to be part of MLL3/4 complex. Human ortholog(s) of this gene implicated in Klatskin's tumor; Kleefstra syndrome 2; esophagus squamous cell carcinoma; and squamous cell carcinoma. Orthologous to human KMT2C (lysine methyltransferase 2C).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Sun et al., 2008
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With kmt2ca Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Kleefstra syndrome 2 Alliance Kleefstra syndrome 2 617768
Associated With kmt2ca Via Experimental Models
No data available
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 IPR009071 High mobility group box domain
Domain IPR019787 Zinc finger, PHD-finger
Domain IPR034732 Extended PHD (ePHD) domain
Domain IPR041968 KMT2C, ePHD2
Family IPR037877 Histone-lysine N-methyltransferase 2C
Homologous_superfamily IPR011011 Zinc finger, FYVE/PHD-type
Homologous_superfamily IPR013083 Zinc finger, RING/FYVE/PHD-type
Homologous_superfamily IPR036910 High mobility group box domain superfamily
Domain Details Per Protein
Protein Length Extended PHD (ePHD) domain FY-rich, C-terminal FY-rich, N-terminal High mobility group box domain High mobility group box domain superfamily Histone-lysine N-methyltransferase 2C KMT2C, ePHD2 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:A5XBQ5 44
UniProtKB:F1R5P1 193
UniProtKB:A0A2R8QF67 633
UniProtKB:A0A2R8Q8I0 3722
UniProtKB:A0A0R4IM21 3688
UniProtKB:A0A2R8Q4J9 412
UniProtKB:F1Q6F2 4946
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