IQSEC1 IQ motif and Sec7 domain ArfGEF 1
Gene ID: 9922, updated on 5-Jan-2025Gene type: protein coding
Also known as: BRAG2; GEP100; IDDSSBA; ARFGEP100; ARF-GEP100
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- Go to complete Gene record for IQSEC1
- Go to Variation Viewer for IQSEC1 variants
Summary
Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in nucleolus. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jan 2025]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available | |
| Intellectual developmental disorder with short stature and behavioral abnormalities | not available |
Genomic context
- Location:
- 3p25.2-p25.1
- Sequence:
- Chromosome: 3; NC_000003.12 (12897043..13283257, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IQSEC1 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
- Variation ViewerRelated Variants
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