IER3IP1 gene

immediate early response 3 interacting protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Dec 2011]

From UniProt:

May be implicated in the regulation of apoptosis. May be involved in protein transport between endoplasmic reticulum and Golgi apparatus.

From NCBI Gene:

  • Microcephaly, epilepsy, and diabetes syndrome

From UniProt:

Microcephaly, epilepsy, and diabetes syndrome (MEDS): An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. [MIM:614231]

Cytogenetic Location: 18q12, which is the long (q) arm of chromosome 18 at position 12

Molecular Location: base pairs 47,155,019 to 47,176,374 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q12, which is the long (q) arm of chromosome 18 at position 12
  • HSPC039
  • MEDS
  • PRO2309