EHBP1 EH domain binding protein 1
Gene ID: 23301, updated on 3-Apr-2024Gene type: protein coding
Also known as: HPC12; NACSIN
- See all available tests in GTR for this gene
- Go to complete Gene record for EHBP1
- Go to Variation Viewer for EHBP1 variants
Summary
This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. GeneReviews: Not available | |
| Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. GeneReviews: Not available | |
| Prostate cancer, hereditary, 12 | not available |
Genomic context
- Location:
- 2p15
- Sequence:
- Chromosome: 2; NC_000002.12 (62673878..63046487)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EHBP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EHBP1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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