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PPFIBP1

Gene

PPFIB scaffold protein 1

HGNCHGNC:9249EnsemblENSG00000110841NCBI Gene8496
Locus: gene with protein productLocation: 12p11.23-p11.22

Also known as

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

Also known asL2 · hSGT2 · hSgt2p · SGT2 · liprin-beta1
View full nomenclature history (8)
Alias symbolsL2, hSGT2, hSgt2p, SGT2, liprin-beta1
Previous namesPPFIA binding protein 1, PTPRF interacting protein, binding protein 1 (liprin beta 1)
Alias namesliprin beta 1

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.

Microcephaly
Neoplasms
Neurodegenerative Diseases
Neurodevelopmental Disorders
Melanocytic neoplasm
Spitz nevus

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.

Sterile alpha motif domain containingPPFI scaffold protein family

Provenance

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