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HIVEP2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

HIVEP2 gene

The HIVEP2 gene encodes a transcription factor that plays a vital role in brain growth and development, with mutations linked to a specific form of intellectual disability.

Normal Function

The HIVEP2 gene provides instructions for making a protein that functions as a transcription factor. Transcription factors bind to specific regions of DNA to help control the activity (expression) of particular genes. The HIVEP2 protein is most abundant in the brain, where it controls the expression of genes involved in brain growth and development. It may also play a role in immune system cell function and bone remodeling, though these roles are not yet fully understood.

Health Conditions Related to Genetic Changes

HIVEP2-related intellectual disability

At least nine mutations in the HIVEP2 gene have been identified in individuals with HIVEP2-related intellectual disability. This condition is characterized by:

  • Delayed development of speech and walking
  • Moderate to severe intellectual disability
  • Mild physical abnormalities (dysmorphic features)
  • Weak muscle tone (hypotonia)

These mutations are thought to lead to a shortage of functional HIVEP2 protein. Researchers speculate that this shortage alters the expression of genes involved in brain growth and development, which likely underlies the cognitive and neurological features of the condition.

Other Names for This Gene

  • c-myc intron binding protein 1
  • HIV-EP2
  • MBP-2
  • MHC binding protein-2
  • MIBP1
  • MRD43
  • Schnurri-2
  • SHN2
  • ZAS2
  • ZNF40B

Frequently Asked Questions

Parents often notice delays in speech and walking, mild facial differences, and low muscle tone (hypotonia) in the first year of life. If a child also shows moderate to severe learning difficulties or has trouble with fine motor skills, these combined features can raise suspicion for a HIVEP2 mutation.
confirmed diagnosis usually involves a genetic test such as whole-exome sequencing or targeted gene panel testing that looks for pathogenic variants in the HIVEP2 gene. The results are interpreted by a clinical geneticist who can explain the significance of the specific mutation.
Early intervention programs are key. Speech and language therapy, occupational therapy, and physical therapy can improve communication, motor skills, and muscle tone. In some cases, educational support and behavioral counseling help address learning challenges. Medications are not typically used to treat the genetic defect itself, but symptomatic treatments (e.g., for seizures if present) may be prescribed.
HIVEP2-related intellectual disability is usually inherited in an autosomal dominant pattern, meaning each child has about a 50 % chance of inheriting the mutation. Genetic counseling can help families understand recurrence risks and discuss options such as prenatal testing or preimplantation genetic diagnosis.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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