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NIPBL

Gene

NIPBL cohesin loading factor

HGNCHGNC:28862EnsemblENSG00000164190NCBI Gene25836
Locus: gene with protein productLocation: 5p13.2

Also known as

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

Also known asFLJ12597 · IDN3 · DKFZp434L1319 · FLJ11203 · FLJ13354 · FLJ13648 · Scc2
View full nomenclature history (10)
Alias symbolsFLJ12597, IDN3, DKFZp434L1319, FLJ11203, FLJ13354, FLJ13648, Scc2
Previous namesNipped-B homolog (Drosophila), NIPBL, cohesin loading factor
Alias namessister chromatid cohesion 2 homolog (yeast)

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.

De Lange Syndrome
Genetic Diseases, Inborn
Microcephaly
Cleft Palate
Liver 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.

Armadillo like helical domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2024-02-22.
Open TargetsGene–disease associations from the Open Targets Platform.