ERBIN gene

The ERBIN gene (ERBIN stands for "Erbb2 Interacting Protein") is a protein-coding gene located at chromosome 5q12.3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

The ERBIN gene belongs to the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization.

It has also been shown to affect Ras signaling by interfering with Ras-Raf interaction. Acts as an adaptor for the receptor ERBB2 in epithelia. By binding to the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to the stabilization of this unphosphorylated state. ERBB2 protein inhibits NOD2-dependent NF-kappa-B signaling and proinflammatory cytokine secretion.

Cri-Du-Chat syndrome: Among the diseases associated with ERBIN is Cri-Du-Chat syndrome (Chromosome 5p Deletion Syndrome; OMIM: 123450). This is a chromosomal disorder that results from the absence of a portion of chromosome 5. Children with this disorder often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by mental retardation and delayed development, a small head (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have characteristic facial features, including wide-set eyes (hypertelorism), low-set ears, a small jaw, and a round face. Some children with cri-du-chat syndrome are born with a heart defect.

Hyper-IgE syndrome: Mutations in ERBIN can lead to the clinical phenotype of hyper-IgE syndrome (Bergerson JRE et al. 2019).

1. Bergerson JRE et al (2019) An Update on Syndromes with a Hyper-IgE Phenotype. Immunol Allergy Clin North Am 39: 49-61.
2. Fang JS et al (2008) Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion. Clin Genet 73: 585-590.
3. Lejeune J et al. (1963) Trois ca de deletion partielle du bras court d'un chromosome 5. C. R. Hebd Seances Acad Sci 257: 3098.
4. Medina M et al (2000) Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 63: 157-164.