ERBIN Chromosome 5
Erbb2 interacting protein
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What This Gene Does
This gene is a member of 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 the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
5q12.3
Ensembl
ENSG00000112851
Associated Conditions (1)
ERBIN-related disorder
Key Variants
RS143804809
Conflicting classifications of pathogenicity
Health Risk
RS146472115
Conflicting classifications of pathogenicity
ERBIN-related disorder, ERBIN-related disorder
Health Risk
RS369427319
Conflicting classifications of pathogenicity
ERBIN-related disorder, ERBIN-related disorder
Health Risk
RS373256281
Conflicting classifications of pathogenicity
Health Risk
RS756303996
Conflicting classifications of pathogenicity
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143804809 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146472115 | Health Risk | Conflicting classifications of pathogenicity | ERBIN-related disorder, ERBIN-related disorder |
| RS369427319 | Health Risk | Conflicting classifications of pathogenicity | ERBIN-related disorder, ERBIN-related disorder |
| RS373256281 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756303996 | Health Risk | Conflicting classifications of pathogenicity | — |