N4BP2L2 Chromosome 13

NEDD4 binding protein 2 like 2

1 variant 1 Health Risk

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What This Gene Does

Enables enzyme binding activity. Involved in negative regulation of hematopoietic stem cell differentiation and positive regulation of hematopoietic stem cell proliferation. Located in nucleus. Part of transcription repressor complex. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (1)

Short stature

Key Variants

RS1158061584

Pathogenic

Short stature, Short stature

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1158061584	Health Risk	Pathogenic	Short stature, Short stature