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

5 figures from 5 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7157663 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 31 figures from 6 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

Human Disease	Fish	Conditions	Citations
Kabuki syndrome	kmt2d^zy59/zy59 (AB)	standard conditions	Serrano et al., 2019
Kabuki syndrome	EKW + MO5-kmt2d	standard conditions	Tsai et al., 2018
Kabuki syndrome	EKW + CRISPR10-kmt2d	standard conditions	Tsai et al., 2018
Kabuki syndrome	kmt2d^{rdu1001/rdu1001}	standard conditions	Tsai et al., 2018

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	IPR046999	KMT2D, PHD5 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	KMT2D, PHD5 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:A0A8M6YVY3 InterPro	4966
UniProtKB:A0A8M6YXU3 InterPro	4949
UniProtKB:A0A8M3B696 InterPro	4967

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	kmt2d-201 (1) Ensembl	Ensembl	9,978 nt	Select Tool ZFIN BLAST
mRNA	kmt2d-202 (1) Ensembl	Ensembl	1,382 nt	Select Tool
mRNA	kmt2d-203 (1) Ensembl	Ensembl	704 nt	Select Tool
mRNA	kmt2d-204 (1) Ensembl	Ensembl	1,217 nt	Select Tool
mRNA	kmt2d-205 (1) Ensembl	Ensembl	1,612 nt	Select Tool

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