KPTN

Gene

kaptin, actin binding protein

HGNCHGNC:6404 EnsemblENSG00000118162 NCBI Gene11133

Locus: gene with protein productLocation: 19q13.32

Also known as

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

Also known as2E4 · KICS4

View full nomenclature history (3)

Alias symbols2E4, KICS4

Previous nameskaptin (actin-binding protein)

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.

Genetic Diseases, Inborn

Complex neurodevelopmental disorder

Intracranial Aneurysm

Craniosynostoses

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Obesity due to melanocortin 4 receptor deficiency

Genetic central nervous system malformation

Autosomal recessive primary microcephaly

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.

KICSTOR complex

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.