SH3KBP1 SH3 domain containing kinase binding protein 1
Gene ID: 30011, updated on 28-Oct-2024Gene type: protein coding
Also known as: HSB1; AGMX2; CIN85; GIG10; HSB-1; IMD61; MIG18; CD2BP3
- See all available tests in GTR for this gene
- Go to complete Gene record for SH3KBP1
- Go to Variation Viewer for SH3KBP1 variants
Summary
This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Immunodeficiency 61 | See labs |
Genomic context
- Location:
- Xp22.12
- Sequence:
- Chromosome: X; NC_000023.11 (19533977..19887600, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SH3KBP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- SH3KBP1 @ LOVD
- Variation ViewerRelated Variants
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