HOXB1
Homo sapiens
Gene Name: homeobox B1
Aliases: HOX2, HOX2I, Hox-2.9, MGC116843, MGC116844, MGC116845
Chromosome No: 17
Chromosome Band: 17q21.32
Genetic Category: Genetic Association-Rare Single Gene variant, Genetic Association--Rare single gene variant
Aliases: HOX2, HOX2I, Hox-2.9, MGC116843, MGC116844, MGC116845
Chromosome No: 17
Chromosome Band: 17q21.32
Genetic Category: Genetic Association-Rare Single Gene variant, Genetic Association--Rare single gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 1
Associated CNVs: 3
Evidence score: 0
ASD Reports: 9
Recent Reports: 1
Annotated variants: 1
Associated CNVs: 3
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
Evidence has been found of an interaction between HOXA1, HOXB1, and gender in susceptibility to ASDs (Ingram et al., 2000); however, in that study, no genetic association was found between HOXB1 alone and autism. As well, several other studies have found no genetic association between HOXB1 and autism in various US and Sicilian (Italian) population cohorts and in a meta-analysis of several studies combined.
Molecular Function
The encoded protein is a transcription factor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.
ASD
Negative Association
No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD).
ASD
Negative Association
Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families.
ASD
Negative Association
An integrated meta-analysis of two variants in HOXA1/HOXB1 and their effect on the risk of autism spectrum disorders.
ASD
Negative Association
No association between allelic variants of HOXA1/HOXB1 and autism.
ASD
Negative Association
Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients.
ASD
Highly Cited
Genetic interactions between Hoxa1 and Hoxb1 reveal new roles in regulation of early hindbrain patterning.
Recent Recommendation
PIASxbeta acts as an activator of Hoxb1 and is antagonized by Krox20 during hindbrain segmentation.
