EPHB6
Homo sapiens
Gene Name: EPH receptor B6
Aliases: HEP
Chromosome No: 7
Chromosome Band: 7q34
Genetic Category: Rare Single Gene variant-Functional
Aliases: HEP
Chromosome No: 7
Chromosome Band: 7q34
Genetic Category: Rare Single Gene variant-Functional
Summary Statistics:
ASD Reports: 7
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
ASD Reports: 7
Recent Reports: 2
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the EPHB6 gene have been identified with autism (O'Roak et al., 2011).
Molecular Function
Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and B2. Modulated cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-2.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Highly Cited
Implications of EPHB6, EFNB2, and EFNB3 expressions in human neuroblastoma.
Highly Cited
High-level expression of EPHB6, EFNB2, and EFNB3 is associated with low tumor stage and high TrkA expression in human neuroblastomas.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
Expression profiling of the ephrin (EFN) and Eph receptor (EPH) family of genes in atherosclerosis-related human cells.
