EFCAB5

Gene

EF-hand calcium binding domain 5

HGNCHGNC:24801 EnsemblENSG00000176927 NCBI Gene374786

Locus: gene with protein productLocation: 17q11.2

Also known as

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

Also known asFLJ46247

View full nomenclature history (1)

Alias symbolsFLJ46247

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.

Non-syndromic male infertility due to sperm motility disorder

Pulmonary Disease, Chronic Obstructive

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.

EF-hand domain containing

Provenance

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

Open TargetsGene–disease associations from the Open Targets Platform.