ABTB3 ankyrin repeat and BTB domain containing 3
Gene ID: 121551, updated on 28-Oct-2024Gene type: protein coding
Also known as: ABTB2B; BTBD11
- See all available tests in GTR for this gene
- Go to complete Gene record for ABTB3
- Go to Variation Viewer for ABTB3 variants
Summary
Predicted to enable PDZ domain binding activity and protein heterodimerization activity. Predicted to act upstream of or within exploration behavior; glutamatergic synaptic transmission; and protein stabilization. Predicted to be located in glutamatergic synapse and membrane. [provided by Alliance of Genome Resources, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. GeneReviews: Not available | |
| Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available | |
| Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. GeneReviews: Not available |
Genomic context
- Location:
- 12q23.3
- Sequence:
- Chromosome: 12; NC_000012.12 (107318434..107659642)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABTB3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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