Gene

kmt2cb

ID

ZDB-GENE-070705-340

Name

lysine (K)-specific methyltransferase 2Cb

Symbol

kmt2cb Nomenclature History

Previous Names

mll3b
si:dkey-193e13.2

Type

protein_coding_gene

Location

Chr: 2 Mapping Details/Browsers

Description

Predicted to have 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 localize to MLL3/4 complex. Human ortholog(s) of this gene implicated in 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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 kmt2cb Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Kleefstra syndrome 2	Alliance	Kleefstra syndrome 2	617768

Associated With kmt2cb Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR000637	HMG-I/HMG-Y, DNA-binding, conserved site
Conserved_site	IPR003888	FY-rich, N-terminal
Conserved_site	IPR003889	FY-rich, C-terminal
Domain	IPR001214	SET domain
Domain	IPR001841	Zinc finger, RING-type
Domain	IPR001965	Zinc finger, PHD-type
Domain	IPR003616	Post-SET domain
Domain	IPR019787	Zinc finger, PHD-finger
Domain	IPR034732	Extended PHD (ePHD) domain
Domain	IPR037877	HMT2C, PHD3
Domain	IPR047004	KMT2C, PHD2 domain
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
Homologous_superfamily	IPR046341	SET 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 superfamily	HMG-I/HMG-Y, DNA-binding, conserved site	HMT2C, PHD3	KMT2C, PHD2 domain	Post-SET domain	SET domain	SET domain superfamily	Zinc finger, FYVE/PHD-type	Zinc finger, PHD-finger	Zinc finger, PHD-type	Zinc finger, RING/FYVE/PHD-type	Zinc finger, RING-type
UniProtKB:A0A8M3AWQ1 InterPro	4854
UniProtKB:A0A8M6Z169 InterPro	4853
UniProtKB:A0A8M3AP79 InterPro	4841
UniProtKB:A0A8M6Z161 InterPro	4891
UniProtKB:A0A8M3APU4 InterPro	4876
UniProtKB:A0A8M6YVA2 InterPro	4891
UniProtKB:A0A8M3B7B2 InterPro	4892
UniProtKB:A0A8M2BAF3 InterPro	4891
UniProtKB:A0A8M2BAH2 InterPro	4880

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	kmt2cb-201 (1) Ensembl	Havana	17074 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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