ELF2 Chromosome 4

E74 like ETS transcription factor 2

1 variant 1 Health Risk

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What This Gene Does

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of transcription by RNA polymerase II. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

ETS transcription factor family

Locus Type

gene with protein product

Location

4q31.1

Ensembl

ENSG00000109381

Associated Conditions (1)

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Key Variants

RS747574524

Likely pathogenic

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS747574524	Health Risk	Likely pathogenic	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome