Gene: IER3IP1

Alternate names for this Gene: HSPC039|MEDS|PRO2309

Gene Summary: This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: immediate early response 3 interacting protein 1

Type of Gene: protein-coding

rs76922914 in IER3IP1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs150586939 in IER3IP1 gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs387907011 in IER3IP1 gene and MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME PMID 21835305 2011 Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.