Emd MGI Mouse Gene Detail - MGI:108117

Symbol

Emd
Name

emerin

Feature Type

protein coding gene
IDs

MGI:108117
NCBI Gene: 13726
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

ChrX:73298293-73305154 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 37.92 cM
Mapping Data

3 experiments

SNPs within 2kb

203 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_108117	protein coding gene	ChrX:73298293-73305188 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035835	protein coding gene	ChrX:70045326-70052243 (+)
A/J	MGP_AJ_G0035816	protein coding gene	ChrX:70239284-70246079 (+)
AKR/J	MGP_AKRJ_G0035741	protein coding gene	ChrX:72136586-72143839 (+)
BALB/cJ	MGP_BALBcJ_G0035801	protein coding gene	ChrX:69263073-69270208 (+)
C3H/HeJ	MGP_C3HHeJ_G0035506	protein coding gene	ChrX:70523813-70534968 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036331	protein coding gene	ChrX:72211103-72217421 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033175	protein coding gene	ChrX:69302342-69308566 (+)
CAST/EiJ	MGP_CASTEiJ_G0034797	protein coding gene	ChrX:55898315-55904678 (+)
CBA/J	MGP_CBAJ_G0035481	protein coding gene	ChrX:74203752-74210061 (+)
DBA/2J	MGP_DBA2J_G0035638	protein coding gene	ChrX:69694250-69701118 (+)
FVB/NJ	MGP_FVBNJ_G0035582	protein coding gene	ChrX:69040983-69047011 (+)
LP/J	MGP_LPJ_G0035723	protein coding gene	ChrX:70829573-70835739 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035620	protein coding gene	ChrX:76764937-76772683 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036353	protein coding gene	ChrX:69869752-69876589 (+)
PWK/PhJ	MGP_PWKPhJ_G0034496	protein coding gene	ChrX:53868965-53875345 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034330	protein coding gene	ChrX:56775672-56782027 (+)
WSB/EiJ	MGP_WSBEiJ_G0034938	protein coding gene	ChrX:69145810-69152119 (+)

Human Ortholog

EMD, emerin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EMD, emerin
Synonyms

EDMD, LEMD5, STA
Links

HGNC:3331

NCBI Gene ID: 2010

neXtProt AC: NX_P50402

UniProt: P50402
Chr Location

Xq28; chrX:154379273-154381574 (+) GRCh38

MGI Vertebrate Homology

Emd stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EMD
Gene Tree

Emd

Diseases

3 with human EMD associations

				Human Disease	Mouse Models
				dilated cardiomyopathy IDs dilated cardiomyopathy DOID:12930 EFO:0000407 ICD10CM:I42.0 KEGG:05414 MESH:D002311 NCI:C84673 OMIM:PS115200 ORDO:217604 UMLS_CUI:C0007193
				Emery-Dreifuss muscular dystrophy IDs Emery-Dreifuss muscular dystrophy DOID:11726 MESH:D020389 NCI:C84685 OMIM:PS310300 ORDO:261 UMLS_CUI:C0410189
				X-linked Emery-Dreifuss muscular dystrophy 1 IDs X-linked Emery-Dreifuss muscular dystrophy 1 DOID:0070246 OMIM:310300

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

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Phenotype Summary

19 phenotypes from 3 alleles in 4 genetic backgrounds
21 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

8
Endonuclease-mediated

2
Gene trapped

3
Targeted

3
Find Mice (IMSR)

4 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for disruptions in this gene are generally indistiguishable from controls. However, lack of muscular coordination is reported for one allele along with development of vacuoles associated with the nuclear membrane of cardiac and skeletal muscle.

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All GO Annotations

47
GO References

12

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	membraneless 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

767
Tissues

7
cDNA Data

78
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase emd

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All Sequences

76
RefSeq

24
UniProt

6
CCDS

CCDS30222.1

Ensembl

ENSMUSG00000001964 (Evidence)
NCBI Gene

13726

			Length	Strain/Species	Flank
genomic	ENSMUSG00000001964	Ensembl Gene Model \| MGI Sequence Detail	6862	C57BL/6J	± kb
transcript	ENSMUST00000002029	Ensembl \| MGI Sequence Detail	1595	Not Applicable
polypeptide	ENSMUSP00000002029	Ensembl \| MGI Sequence Detail	259	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000007050 emerin

(term hierarchy)
InterPro Domains

IPR035004 Emerin

IPR034989 Emerin, LEM domain

IPR003887 LEM domain

IPR011015 LEM/LEM-like domain superfamily
GlyGen

O08579 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

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All nucleic 83

Genomic 4

cDNA 79

Microarray probesets 4

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MGD-MRK-37154, MGI:2148023

Summaries

All 71

Developmental Gene Expression 9

Gene Ontology 12

Phenotypes 21
Earliest

J:47956 Bione S, et al., Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec;8(4):323-7
Latest

J:347982 Li C, et al., Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere. J Biol Chem. 2024 Apr 2;300(5):107254

TSS for Emd:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161310	ChrX:73298285-73298332 (+)	16 bp
Tssr161311	ChrX:73298342-73298356 (+)	56 bp
Tssr161312	ChrX:73298388-73298478 (+)	140 bp
Tssr161313	ChrX:73298483-73298494 (+)	196 bp
Tssr161314	ChrX:73298657-73298668 (+)	370 bp
Tssr161315	ChrX:73298780-73298791 (+)	493 bp
Tssr161316	ChrX:73298869-73298883 (+)	583 bp
Tssr161317	ChrX:73301023-73301052 (+)	2,745 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 12/10/2024 MGI 6.24