SSH2 slingshot protein phosphatase 2
Gene ID: 85464, updated on 14-Nov-2024Gene type: protein coding
Also known as: SSH-2; SSH-2L
- See all available tests in GTR for this gene
- Go to complete Gene record for SSH2
- Go to Variation Viewer for SSH2 variants
Summary
This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. GeneReviews: Not available |
Genomic context
- Location:
- 17q11.2
- Sequence:
- Chromosome: 17; NC_000017.11 (29625938..29930228, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SSH2 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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