On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the MAPK8IP3 gene was identified in a male, age 5, with global developmental delay (read full description).

Date of Report

Jan 08, 2019

Full Name

mitogen-activated protein kinase 8-interacting protein 3

Chromosome 16 (16p13.3)


The MAPK8IP3 gene codes for a protein important in the function of cells in the nervous system (Yang et al. 2001).

Database Links

GeneCards: MAPK8IP3

NCBI Gene: 23162

OMIM: 605431

UniProtKB: Q9UPT6

Clinical Significance

The following change was identified in a UDN participant. Several families with children with MAPK8IP3 variants have partnered to create a website for families to connect and learn about ongoing research:

Inheritance Pattern Autosomal dominant
Position (hg19) chr16:g.1756451C>G
Transcript NM_015133.3
DNA Change c.111C>G
Protein Change p.Tyr37Ter
Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!