Dmxl2 MGI Mouse Gene Detail - MGI:2444630

Symbol

Dmxl2
Name

Dmx-like 2
Synonyms

6430411K14Rik, E130119P06Rik

Feature Type

protein coding gene
IDs

MGI:2444630
NCBI Gene: 235380
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr9:54272442-54408910 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 29.58 cM, cytoband C
Mapping Data

2 experiments

SNPs within 2kb

414 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444630	protein coding gene	Chr9:54272442-54409150 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0034823	protein coding gene	Chr9:53402652-53544172 (-)
A/J	MGP_AJ_G0034804	protein coding gene	Chr9:51700602-51839582 (-)
AKR/J	MGP_AKRJ_G0034732	protein coding gene	Chr9:52866199-53012603 (-)
BALB/cJ	MGP_BALBcJ_G0034796	protein coding gene	Chr9:51470670-51613559 (-)
C3H/HeJ	MGP_C3HHeJ_G0034506	protein coding gene	Chr9:53336779-53478437 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0035315	protein coding gene	Chr9:54889808-55046218 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032227	protein coding gene	Chr9:51110858-51252654 (-)
CAST/EiJ	MGP_CASTEiJ_G0033828	protein coding gene	Chr9:53344846-53491859 (-)
CBA/J	MGP_CBAJ_G0034477	protein coding gene	Chr9:56774589-56938785 (-)
DBA/2J	MGP_DBA2J_G0034636	protein coding gene	Chr9:51589815-51727911 (-)
FVB/NJ	MGP_FVBNJ_G0034578	protein coding gene	Chr9:50789160-50925861 (-)
LP/J	MGP_LPJ_G0034718	protein coding gene	Chr9:53712975-53865416 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034621	protein coding gene	Chr9:58356163-58506674 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035337	protein coding gene	Chr9:52865891-53014171 (-)
PWK/PhJ	MGP_PWKPhJ_G0033532	protein coding gene	Chr9:51560445-51703747 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0033367	protein coding gene	Chr9:53138413-53289276 (-)
WSB/EiJ	MGP_WSBEiJ_G0033940	protein coding gene	Chr9:52848181-52992591 (-)

Human Ortholog

DMXL2, Dmx like 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DMXL2, Dmx like 2
Synonyms

DEE81, DFNA71, EIEE81, PEPNS, RC3
Links

HGNC:2938

NCBI Gene ID: 23312

neXtProt AC: NX_Q8TDJ6

UniProt: Q8TDJ6
Chr Location

15q21.2; chr15:51447711-51622833 (-) GRCh38

MGI Vertebrate Homology

Dmxl2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DMXL2
Gene Tree

Dmxl2

Diseases

2 with human DMXL2 associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness 71 IDs autosomal dominant nonsyndromic deafness 71 DOID:0080267 OMIM:617605
				developmental and epileptic encephalopathy 81 IDs developmental and epileptic encephalopathy 81 DOID:0112217 OMIM:618663

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

32 phenotypes from 2 alleles in 3 genetic backgrounds
1 images
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

6
Endonuclease-mediated

1
Gene trapped

2
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

122 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit complete prenatal lethality.

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All GO Annotations

13
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

778
Tissues

13
cDNA Data

78
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dmxl2

ZFIN dmxl2

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All Sequences

66
RefSeq

10
UniProt

5
CCDS

CCDS52799.1

Ensembl

ENSMUSG00000041268 (Evidence)
NCBI Gene

235380

			Length	Strain/Species	Flank
genomic	ENSMUSG00000041268	Ensembl Gene Model \| MGI Sequence Detail	136469	C57BL/6J	± kb
transcript	ENSMUST00000118163	Ensembl \| MGI Sequence Detail	10614	Not Applicable
polypeptide	ENSMUSP00000113705	Ensembl \| MGI Sequence Detail	3054	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000006553 DmX-like protein 2

(term hierarchy)
InterPro Domains

IPR022033 RAVE complex protein Rav1 C-terminal

IPR001680 WD40 repeat

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

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All nucleic 78

cDNA 78

Microarray probesets 5

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MGI:1924131

Summaries

All 39

Developmental Gene Expression 4

Gene Ontology 7

Phenotypes 12
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:341383 Salamon I, et al., Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Nat Commun. 2023 Sep 27;14(1):6025

TSS for Dmxl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr89645	Chr9:54409198-54409209 (-)	-294 bp
Tssr89644	Chr9:54409112-54409133 (-)	-213 bp
Tssr89643	Chr9:54409015-54409057 (-)	-126 bp
Tssr89642	Chr9:54408931-54408967 (-)	-39 bp
Tssr89641	Chr9:54408849-54408928 (-)	21 bp
Tssr89640	Chr9:54396481-54396485 (-)	12,427 bp
Tssr89639	Chr9:54381699-54381706 (-)	27,207 bp
Tssr89638	Chr9:54381408-54381429 (-)	27,491 bp
Tssr89637	Chr9:54381381-54381407 (-)	27,516 bp
Tssr89636	Chr9:54342247-54342252 (-)	66,660 bp
Tssr89635	Chr9:54331870-54331875 (-)	77,037 bp
Tssr89634	Chr9:54326879-54326903 (-)	82,019 bp
Tssr89633	Chr9:54323116-54323136 (-)	85,784 bp
Tssr89632	Chr9:54300030-54300036 (-)	108,877 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23