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EFEMP2

Gene

EGF-like fibulin extracellular matrix protein 2

HGNCHGNC:3219EnsemblENSG00000172638NCBI Gene30008
Locus: gene with protein productLocation: 11q13.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asFBLN4 · UPH1
View full nomenclature history (6)
Alias symbolsFBLN4, UPH1
Previous namesEGF containing fibulin extracellular matrix protein 2, EGF-containing fibulin-like extracellular matrix protein 2, EGF containing fibulin like extracellular matrix protein 2
Alias namesfibulin 4

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Aortic Aneurysm
Basal cell carcinoma
Lymphohistiocytosis, Hemophagocytic
Neurodegenerative Diseases

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Fibulins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-09-04.
Open TargetsGene–disease associations from the Open Targets Platform.