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Symbol report for EFEMP2

Stable symbol

HGNC data for EFEMP2

Approved symbol
EFEMP2
Approved name

EGF containing fibulin extracellular matrix protein 2

Locus type
gene with protein product
HGNC ID
HGNC:3219
Symbol status
Approved
Previous names
EGF-containing fibulin-like extracellular matrix protein 2
EGF containing fibulin like extracellular matrix protein 2
Alias symbols
FBLN4
UPH1
Alias names
fibulin 4
Chromosomal location
11q13.1
Gene groups
Gene resources for EFEMP2
Ensembl
ENSG00000172638 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
30008 Curated
UCSC
uc001ofy.5
Alliance of Genome Resources
HGNC:3219
Nucleotide resources for EFEMP2
MANE Select
NM_016938.5
ENST00000307998.11
INSDC
AF109121 Curated
ENAGenBankDDBJ
RefSeq
NM_016938 Curated
NCBI sequence viewer
CCDS
CCDS8116 Curated
Protein resources for EFEMP2
UniProt/Swiss-Prot
O95967
InterProPDBeReactome
AlphaFold
AF-O95967-F1
Orthologs from selected species for EFEMP2
Bos taurus
EFEMP2 VGNC:28349 VGNC
Canis familiaris
EFEMP2 VGNC:40221 VGNC
Equus caballus
EFEMP2 VGNC:17443 VGNC
Felis catus
EFEMP2 VGNC:61744 VGNC
Macaca mulatta
EFEMP2 VGNC:72166 VGNC
Mus musculus
Efemp2 MGI:1891209 Curated
Pan troglodytes
EFEMP2 VGNC:10398 VGNC
Rattus norvegicus
Efemp2 RGD:1359496
Sus scrofa
EFEMP2 VGNC:99643 VGNC
Clinical resources for EFEMP2
OMIM
604633
GenCC
HGNC:3219
MedlinePlus
Search via EFEMP2
DECIPHER
Search via EFEMP2
ClinGen
Search via HGNC:3219
Genetic Testing Registry
Search via NCBI Gene ID 30008
ClinVar
Search via NCBI Gene ID 30008
dbVar
Search via NCBI Gene ID 30008
Orphanet
121299
Other resources for EFEMP2
AmiGO
Search via O95967
QuickGO
Search via O95967
BioGPS
Search via NCBI Gene ID 30008
GeneCards
Search via HGNC:3219
Monarch
Search via HGNC:3219
WikiGenes
Search via NCBI Gene ID 30008
References for EFEMP2