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ECSIT

Gene

ECSIT signaling integrator

HGNCHGNC:29548EnsemblENSG00000130159NCBI Gene51295
Locus: gene with protein productLocation: 19p13.2

Also known as

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

Also known asSITPEC
View full nomenclature history (4)
Alias symbolsSITPEC
Previous namesECSIT homolog (Drosophila), ECSIT signalling integrator
Alias namessignaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)

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.

Neurodegenerative Diseases
Rare familial disorder with hypertrophic cardiomyopathy
Cardiomyopathy, Hypertrophic
Left ventricular noncompaction
Familial isolated dilated cardiomyopathy
Death, Sudden, Cardiac

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.

Mitochondrial complex I assembly 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.