DENND2B DENN domain containing 2B
Gene ID: 6764, updated on 2-Nov-2024Gene type: protein coding
Also known as: ST5; HTS1; p126
- See all available tests in GTR for this gene
- Go to complete Gene record for DENND2B
- Go to Variation Viewer for DENND2B variants
Summary
This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses identify variants in developmental genes associated with hypospadias. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.4
- Sequence:
- Chromosome: 11; NC_000011.10 (8693352..8910951, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DENND2B 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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