PSD3 pleckstrin and Sec7 domain containing 3
Gene ID: 23362, updated on 10-Oct-2024Gene type: protein coding
Also known as: EFA6D; EFA6R; HCA67
- See all available tests in GTR for this gene
- Go to complete Gene record for PSD3
- Go to Variation Viewer for PSD3 variants
Summary
Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction and regulation of catalytic activity. Predicted to be located in membrane. Predicted to be active in ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. GeneReviews: Not available | |
| Gene network analysis in a pediatric cohort identifies novel lung function genes. GeneReviews: Not available | |
| Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy. GeneReviews: Not available | |
| Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2016-12-07) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2016-12-07) ClinGen Genome Curation Page |
Genomic context
- Location:
- 8p22
- Sequence:
- Chromosome: 8; NC_000008.11 (18527303..19084805, complement)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PSD3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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