Emd (emerin) - Rat Genome Database

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Gene: Emd (emerin) Rattus norvegicus
Analyze
Symbol: Emd
Name: emerin
RGD ID: 2551
Description: Predicted to enable actin binding activity and beta-tubulin binding activity. Involved in nuclear membrane reassembly. Located in nuclear envelope. Human ortholog(s) of this gene implicated in Emery-Dreifuss muscular dystrophy; X-linked Emery-Dreifuss muscular dystrophy 1; and dilated cardiomyopathy. Orthologous to human EMD (emerin); PARTICIPATES IN arrhythmogenic right ventricular cardiomyopathy pathway; dilated cardiomyopathy pathway; hypertrophic cardiomyopathy pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; ammonium chloride.
Type: protein-coding
RefSeq Status: PROVISIONAL
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X157,190,438 - 157,193,479 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX157,189,819 - 157,197,095 (+)EnsemblGRCr8
mRatBN7.2X152,038,990 - 152,042,190 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX152,038,998 - 152,045,807 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX154,180,279 - 154,183,290 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,743,512 - 157,746,523 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,415,308 - 155,418,319 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,452,847 - 156,455,858 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,452,818 - 156,456,035 (-)Ensemblrn6Rnor6.0
Rnor_5.01152,192,993 - 152,196,004 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X160,351,228 - 160,354,239 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1135,854,577 - 135,857,588 (-)NCBICelera
RGSC_v3.1X160,427,431 - 160,430,442 (-)NCBI
Cytogenetic MapXq37NCBI
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
actin binding  (IBA,IEA,ISO)
beta-tubulin binding  (IBA,IEA,ISO)
protein binding  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Bione S, etal., Nat Genet. 1994 Dec;8(4):323-7.
2. Distribution of emerin during the cell cycle. Dabauvalle MC, etal., Eur J Cell Biol 1999 Oct;78(10):749-56.
3. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. Ellis JA, etal., J Cell Sci 1998 Mar;111 ( Pt 6):781-92.
4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
5. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
6. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
7. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. GOA pipeline RGD automated data pipeline
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Comprehensive gene review and curation RGD comprehensive gene curation
14. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
15. Tentative Sequence Identification Numbers Tentative Sequence Data IDs. TIGR Gene Index, Rat Data
16. Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy. Zhang M, etal., BMC Med Genet. 2014 Jul 5;15:77. doi: 10.1186/1471-2350-15-77.
Additional References at PubMed
PMID:15328537   PMID:16283426   PMID:16858403   PMID:17164264   PMID:17785515   PMID:19167377   PMID:19494128   PMID:19720741   PMID:19933576   PMID:19946888   PMID:21610090   PMID:22349700  
PMID:25468996   PMID:27114541   PMID:27534416   PMID:28290476   PMID:32926941  


Genomics

Comparative Map Data
Emd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X157,190,438 - 157,193,479 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX157,189,819 - 157,197,095 (+)EnsemblGRCr8
mRatBN7.2X152,038,990 - 152,042,190 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX152,038,998 - 152,045,807 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX154,180,279 - 154,183,290 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X157,743,512 - 157,746,523 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,415,308 - 155,418,319 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X156,452,847 - 156,455,858 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX156,452,818 - 156,456,035 (-)Ensemblrn6Rnor6.0
Rnor_5.01152,192,993 - 152,196,004 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X160,351,228 - 160,354,239 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1135,854,577 - 135,857,588 (-)NCBICelera
RGSC_v3.1X160,427,431 - 160,430,442 (-)NCBI
Cytogenetic MapXq37NCBI
EMD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,379,295 - 154,381,523 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,379,244 - 154,381,574 (+)Ensemblhg38GRCh38
GRCh37X153,607,655 - 153,609,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,260,981 - 153,263,075 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X153,128,633 - 153,130,728NCBI
CeleraX153,768,677 - 153,770,963 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,185,074 - 142,187,360 (+)NCBIHuRef
CHM1_1X153,519,221 - 153,521,507 (+)NCBICHM1_1
T2T-CHM13v2.0X152,610,118 - 152,618,066 (+)NCBIT2T-CHM13v2.0
Emd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,298,297 - 73,305,188 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX73,298,293 - 73,305,154 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38X74,254,674 - 74,261,563 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,254,687 - 74,261,548 (+)Ensemblmm10GRCm38
GRCm38.p6 EnsemblX74,261,032 - 74,261,374 (+)Ensemblmm10GRCm38
MGSCv37X71,500,178 - 71,503,086 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36X70,507,559 - 70,510,467 (+)NCBIMGSCv36mm8
CeleraX65,508,981 - 65,511,889 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.92NCBI
Emd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580864,532 - 866,904 (-)Ensembl
ChiLan1.0NW_004955580864,532 - 866,904 (-)NCBIChiLan1.0ChiLan1.0
EMD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X154,324,795 - 154,332,696 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X154,328,400 - 154,330,769 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X143,792,178 - 143,794,530 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
EMD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,050,309 - 122,052,629 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,050,455 - 122,052,524 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_TashaX107,379,062 - 107,381,339 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0X125,192,020 - 125,194,303 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX125,192,024 - 125,204,015 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X120,961,089 - 120,963,363 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X123,475,997 - 123,478,261 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X123,237,823 - 123,240,104 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Emd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,389,931 - 119,392,424 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049368091,127,710 - 1,130,195 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049368091,127,701 - 1,130,195 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EMD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,883,049 - 124,885,432 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1X124,883,047 - 124,885,429 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EMD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X128,689,588 - 128,692,105 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX128,689,588 - 128,692,625 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366606566,578,574 - 66,581,198 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Emd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624946801,639 - 808,162 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624946805,573 - 808,001 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Emd
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1X128,259,210 - 128,262,358 (+)NCBIRrattus_CSIRO_v1

miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:81
Count of miRNA genes:67
Interacting mature miRNAs:76
Transcripts:ENSRNOT00000056282
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
738025Stresp3Stress response QTL 34.610.0066stress-related behavior trait (VT:0010451)defensive burying - approachX105359969157758123Rat
10059603Bw174Body weight QTL 1743.40.025body mass (VT:0001259)body weight (CMO:0000012)X118973754157758123Rat

Markers in Region
AI176340  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X152,041,906 - 152,042,150 (-)MAPPERmRatBN7.2
Rnor_6.0X156,452,857 - 156,453,100NCBIRnor6.0
Rnor_5.01152,193,003 - 152,193,246UniSTSRnor5.0
RGSC_v3.4X160,351,238 - 160,351,481UniSTSRGSC3.4
Celera1135,854,587 - 135,854,830UniSTS
Cytogenetic MapXq37UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 164 91 90 59 92 59 6 356 192 11 143 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000080990   ⟹   ENSRNOP00000075584
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX157,190,264 - 157,193,478 (+)Ensembl
mRatBN7.2 EnsemblX152,038,998 - 152,042,184 (+)Ensembl
Rnor_6.0 EnsemblX156,452,818 - 156,456,035 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000101200   ⟹   ENSRNOP00000083369
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX157,190,545 - 157,193,478 (+)Ensembl
mRatBN7.2 EnsemblX152,039,256 - 152,042,188 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000103763   ⟹   ENSRNOP00000090616
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX157,190,255 - 157,197,095 (+)Ensembl
mRatBN7.2 EnsemblX152,038,998 - 152,045,807 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000108345   ⟹   ENSRNOP00000096388
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX157,190,255 - 157,193,478 (+)Ensembl
mRatBN7.2 EnsemblX152,039,149 - 152,042,188 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000114008   ⟹   ENSRNOP00000087293
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX157,190,255 - 157,197,024 (+)Ensembl
mRatBN7.2 EnsemblX152,038,998 - 152,045,736 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000163188   ⟹   ENSRNOP00000102868
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 EnsemblX157,189,819 - 157,193,478 (+)Ensembl
RefSeq Acc Id: NM_012948   ⟹   NP_037080
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X157,190,438 - 157,193,449 (+)NCBI
mRatBN7.2X152,039,149 - 152,042,160 (+)NCBI
Rnor_6.0X156,452,847 - 156,455,858 (-)NCBI
Rnor_5.01152,192,993 - 152,196,004 (-)NCBI
RGSC_v3.4X160,351,228 - 160,354,239 (-)RGD
Celera1135,854,577 - 135,857,588 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039099500   ⟹   XP_038955428
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X157,190,488 - 157,193,479 (+)NCBI
mRatBN7.2X152,038,992 - 152,042,190 (+)NCBI
Protein Sequences
Protein RefSeqs NP_037080 (Get FASTA)   NCBI Sequence Viewer  
  XP_038955428 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH59151 (Get FASTA)   NCBI Sequence Viewer  
  CAA67023 (Get FASTA)   NCBI Sequence Viewer  
  EDL84988 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000075584
GenBank Protein Q63190 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_037080   ⟸   NM_012948
- UniProtKB: Q63190 (UniProtKB/Swiss-Prot),   Q6PCU4 (UniProtKB/TrEMBL),   A0A0G2KAZ3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000075584   ⟸   ENSRNOT00000080990
RefSeq Acc Id: XP_038955428   ⟸   XM_039099500
- Peptide Label: isoform X1
- UniProtKB: A0A8I6G8X3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSRNOP00000096388   ⟸   ENSRNOT00000108345
Ensembl Acc Id: ENSRNOP00000090616   ⟸   ENSRNOT00000103763
Ensembl Acc Id: ENSRNOP00000087293   ⟸   ENSRNOT00000114008
Ensembl Acc Id: ENSRNOP00000083369   ⟸   ENSRNOT00000101200
Ensembl Acc Id: ENSRNOP00000102868   ⟸   ENSRNOT00000163188
Protein Domains
LEM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q63190-F1-model_v2 AlphaFold Q63190 1-260 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2551 AgrOrtholog
BioCyc Gene G2FUF-637 BioCyc
Ensembl Genes ENSRNOG00000058882 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000080990 ENTREZGENE
Gene3D-CATH 1.10.720.40 UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:6919042 IMAGE-MGC_LOAD
InterPro Emerin UniProtKB/Swiss-Prot
  LEM/LEM-like_dom_sf UniProtKB/Swiss-Prot
  LEM_dom UniProtKB/Swiss-Prot
  LEM_emerin UniProtKB/Swiss-Prot
KEGG Report rno:25437 UniProtKB/Swiss-Prot
MGC_CLONE MGC:72923 IMAGE-MGC_LOAD
NCBI Gene 25437 ENTREZGENE
PANTHER EMERIN UniProtKB/Swiss-Prot
  PTHR15171 UniProtKB/Swiss-Prot
Pfam LEM UniProtKB/Swiss-Prot
PhenoGen Emd PhenoGen
PROSITE LEM UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000058882 RatGTEx
SMART LEM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF63451 UniProtKB/Swiss-Prot
TIGR TC206342
UniProt A0A0G2KAZ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6A5J4_RAT UniProtKB/TrEMBL
  A0A8I6ADW3_RAT UniProtKB/TrEMBL
  A0A8I6AV07_RAT UniProtKB/TrEMBL
  A0A8I6G8X3 ENTREZGENE, UniProtKB/TrEMBL
  A0ABK0LHC5_RAT UniProtKB/TrEMBL
  EMD_RAT UniProtKB/Swiss-Prot, ENTREZGENE
  Q6PCU4 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2002-06-10 Emd  Emerin      Symbol and Name status set to approved 70586 APPROVED