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Protein-coding gene in the species Homo sapiens
and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene. The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family
IQSEC2
Genetic disorder
to changes in the copy number of several genes including HUWE1, KDM5C, IQSEC2, TSPYL2, SHROOM4, PHF8 and FAM120C. The HECT, UBA and WWE domain-containing
Xp11.2_duplication
Rare form of childhood-onset epilepsy
(CNVs) in adult patients with LGS or LGS-like epilepsy. Mutations in the IQSEC2 gene have been associated with this syndrome. This gene is located on the
Lennox–Gastaut_syndrome
Medical condition
are also several loci that have not been associated with a specific gene. IQSEC2: encodes an exchange factor for the Arf family of small GTP binding proteins
X-linked intellectual disability
X-linked_intellectual_disability
Q13576 7760 IQGAP3 HGNC:20669; Q86VI3 7761 IQSEC1 HGNC:29112; Q6DN90 7762 IQSEC2 HGNC:29059; Q5JU85 7763 IQSEC3 HGNC:29193; Q9UPP2 7764 IQUB HGNC:21995;
List of human protein-coding genes 4
List_of_human_protein-coding_genes_4
and micropenis; 610156; INPP5E Mental retardation, X-linked 1; 309530; IQSEC2 Mental retardation, X-linked 17/31, microduplication; 300705; HSD17B10 Mental
List_of_OMIM_disorder_codes
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