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 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

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

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 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
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	IPR009071	High mobility group box domain
Domain	IPR019787	Zinc finger, PHD-finger
Domain	IPR034732	Extended PHD (ePHD) domain
Domain	IPR041968	KMT2C, ePHD2
Domain	IPR047003	KMT2C, PHD4 domain
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	High mobility group box domain superfamily	KMT2C, ePHD2	KMT2C, PHD2 domain	KMT2C, PHD4 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:A0A8M9PG96 InterPro	4909
UniProtKB:A0A8M2B9Q2 InterPro	4954
UniProtKB:A0A8M6YY65 InterPro	4957
UniProtKB:A0A8M6YWB8 InterPro	4957
UniProtKB:A0A8M2B9E8 InterPro	4942
UniProtKB:A0A8M2B9E0 InterPro	4958
UniProtKB:A0A8M2B9D3 InterPro	4918

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	kmt2ca-201 (1) Ensembl	Havana	610 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	kmt2ca-202 (1) Ensembl	Havana	17032 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