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Gene : IQSEC2 Homo sapiens

Name  ? IQ motif and Sec7 domain ArfGEF 2 Cytological Location  Xp11.22
Brief Description  IQ motif and Sec7 domain ArfGEF 2
description  This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked cognitive disability. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
  • synonyms:
  • KIAA0522,
  • uc004dsc.4,
  • AB011094,
  • mental retardation, X-linked 1 (non-dysmorphic),
  • brefeldin A resistant Arf-guanine nucleotide exchange factor 1,
  • MRX1,
  • BRAG1,
  • MRX18,
  • IQ-ArfGEF,
  • MRX1,
  • IQ-ArfGEF,
  • IQ motif and Sec7 domain 2,
  • HGNC:29059,
  • NM_001111125,
  • BRAG1,
  • MRX78,
  • mental retardation, X-linked 18,
  • MRX18,
  • MRX78,
  • OTTHUMG00000021608,
  • mental retardation, X-linked 78,
  • IQSEC2
  • identifiers:
  • 23096,
  • ENSG00000124313,
  • IQSEC2

Genome feature

Region: gene ? Length: 95573  
Location: X:53225784-53321356 reverse strand Cyto location: Xp11.22

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1 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

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Gene --> GO terms.



1 Pathways

186 SN Ps

5 Cross References

18 Data Sets

21 Homologues

1 Located Features

97 Rna Seq Results