IQSEC2

IQ motif and Sec7 domain 2 is a protein that in humans is encoded by the IQSEC2 gene.^[5][6]

IQSEC2
Identifiers
Aliases	IQSEC2, BRAG1, MRX1, MRX78, IQ motif and Sec7 domain 2, MRX18, IQ-ArfGEF, IQ motif and Sec7 domain ArfGEF 2, XLID1
External IDs	OMIM: 300522; MGI: 3528396; HomoloGene: 19407; GeneCards: IQSEC2; OMA:IQSEC2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.22 Start 53,225,828 bp[1] End 53,321,350 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F3|X 68.46 cM Start 150,927,264 bp[2] End 151,008,232 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe gastrocnemius muscle Brodmann area 9 prefrontal cortex cingulate gyrus anterior cingulate cortex nucleus accumbens right uterine tube muscle of thigh Top expressed in interventricular septum dentate gyrus of hippocampal formation granule cell primary visual cortex superior frontal gyrus right kidney myocardium of ventricle proximal tubule cerebellar cortex hippocampus proper extraocular muscle More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 23096 245666 Ensembl ENSG00000124313 ENSMUSG00000041115 UniProt Q5JU85 Q5DU25 RefSeq (mRNA) NM_001111125 NM_001243197 NM_015075 NM_001005475 NM_001114664 RefSeq (protein) NP_001104595 NP_001230126 NP_055890 NP_001005475 NP_001108136 NP_001392874 NP_001392875 NP_001392876 NP_001392877 NP_001392878 NP_001392879 Location (UCSC) Chr X: 53.23 – 53.32 Mb Chr X: 150.93 – 151.01 Mb PubMed search [3] [4]
Wikidata
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Function

The IQSEC2 gene encodes a guanine nucleotide exchange factor for the ARF family of GTP-binding proteins (see for example ARF1).^[7]

Clinical significance

It is associated with X-Linked mental retardation 1.^[7]