kmt2bb

ID

ZDB-GENE-080521-1

Name

lysine (K)-specific methyltransferase 2Bb

Symbol

kmt2bb Nomenclature History

Previous Names

mll4b

Type

protein_coding_gene

Location

Chr: 15 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable histone H3K4 methyltransferase activity. Predicted to be involved in positive regulation of DNA-templated transcription. Predicted to be located in nucleus. Predicted to be part of histone methyltransferase complex. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 68; colorectal adenocarcinoma; dystonia 28, childhood-onset; and hepatocellular carcinoma. Orthologous to human KMT2B (lysine methyltransferase 2B).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Sun et al., 2008

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 kmt2bb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant intellectual developmental disorder 68	Alliance	Intellectual developmental disorder, autosomal dominant 68	619934
dystonia 28, childhood-onset	Alliance	Dystonia 28, childhood-onset	617284

Associated With kmt2bb 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	IPR001965	Zinc finger, PHD-type
Domain	IPR002857	Zinc finger, CXXC-type
Domain	IPR003616	Post-SET domain
Domain	IPR019787	Zinc finger, PHD-finger
Domain	IPR034732	Extended PHD (ePHD) domain
Domain	IPR047219	Histone-lysine N-methyltransferase 2A/2B, SET domain
Homologous_superfamily	IPR011011	Zinc finger, FYVE/PHD-type
Homologous_superfamily	IPR013083	Zinc finger, RING/FYVE/PHD-type
Homologous_superfamily	IPR036427	Bromodomain-like superfamily
Homologous_superfamily	IPR046341	SET domain superfamily