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Symbol report for EMD

HGNC data for EMD

Approved symbol
EMD
Approved name

emerin

Locus type
gene with protein product
HGNC ID
HGNC:3331
Symbol status
Approved
Previous names
Emery-Dreifuss muscular dystrophy
Alias symbols
STA
LEMD5
Alias names
LEM domain containing 5
Chromosomal location
Xq28
Gene groups
Gene resources for EMD
Ensembl
ENSG00000102119 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
2010 Curated
UCSC
uc004fkl.4
Alliance of Genome Resources
HGNC:3331
Nucleotide resources for EMD
MANE Select
NM_000117.3
ENST00000369842.9
INSDC
X82434 Curated
ENAGenBankDDBJ
RefSeq
NM_000117
NCBI sequence viewer
CCDS
CCDS14745 Curated
Protein resources for EMD
UniProt/Swiss-Prot
P50402
InterProPDBeReactome
AlphaFold
AF-P50402-F1
Orthologs from selected species for EMD
Bos taurus
EMD VGNC:28469 VGNC
Canis familiaris
EMD VGNC:40340 VGNC
Equus caballus
EMD VGNC:17559 VGNC
Felis catus
EMD VGNC:61840 VGNC
Macaca mulatta
EMD VGNC:72213 VGNC
Mus musculus
Emd MGI:108117 Curated
Pan troglodytes
EMD VGNC:1391 VGNC
Rattus norvegicus
Emd RGD:2551
Sus scrofa
EMD VGNC:87675 VGNC
Clinical resources for EMD
OMIM
300384
LRG
LRG_745 Curated
LSDB
Leiden Muscular Dystrophy Pages Curated
UMD Locus Specific Databases Curated
Leiden Muscular Dystrophy pages Curated
Global Variome shared LOVD Curated
GenCC
HGNC:3331
MedlinePlus
Search via EMD
DECIPHER
Search via EMD
ClinGen
Search via HGNC:3331
Genetic Testing Registry
Search via NCBI Gene ID 2010
ClinVar
Search via NCBI Gene ID 2010
dbVar
Search via NCBI Gene ID 2010
Orphanet
121526
Other resources for EMD
AmiGO
Search via P50402
QuickGO
Search via P50402
BioGPS
Search via NCBI Gene ID 2010
GeneCards
Search via HGNC:3331
Monarch
Search via HGNC:3331
WikiGenes
Search via NCBI Gene ID 2010