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IQSEC2 - IQ motif and Sec7 domain ArfGEF 2
- Synonym(s) : BRAG1, brefeldin A resistant Arf-guanine nucleotide exchange factor 1, IQ-ArfGEF, KIAA0522
- Previous symbols and names : IQ motif and Sec7 domain 2, MRX1, MRX18, MRX78, mental retardation, X-linked 1 (non-dysmorphic), mental retardation, X-linked 18, mental retardation, X-linked 78
- Type : gene with protein product
- Chromosomal location : Xp11.22
- OMIM: 300522
- HGNC: 29059
- UniProtKB: Q5JU85
- Genatlas: IQSEC2
- GenCC: IQSEC2
- Ensembl: ENSG00000124313
- IUPHAR-DB: -
- Reactome: -
- LOVD: IQSEC2
Diseases list
- Disease-causing germline mutation(s) in X-linked non-syndromic intellectual disability
ORPHA:777 
- Disease-causing germline mutation(s) (loss of function) in Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
ORPHA:397933 - Role in the phenotype of Microduplication Xp11.22p11.23 syndrome
ORPHA:217377 - Candidate gene tested in Smith-Magenis syndrome
ORPHA:819
: AssessedAdditional information
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