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IQSEC2

IQSEC2

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

Xp11.2 duplication

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

Xp11.2_duplication

Lennox–Gastaut syndrome

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

Lennox–Gastaut_syndrome

X-linked intellectual disability

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

List of human protein-coding genes 4

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

List of OMIM disorder codes

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

List_of_OMIM_disorder_codes