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- Table of Contents
Facts about IQ motif and SEC7 domain-containing protein 2.
| Human | |
|---|---|
| Gene Name: | IQSEC2 |
| Uniprot: | Q5JU85 |
| Entrez: | 23096 |

| Belongs to: |
|---|
| BRAG family |

BRAG1; brefeldin A resistant Arf-guanine nucleotide exchange factor 1; brefeldin A resistant Arf-guanine nucleotide exchange factor 1c; IQ motif and Sec7 domain 2; IQ motif and SEC7 domain-containing protein 2; KIAA0522; MRX1
Mass (kDA):
162.784 kDA

| Human | |
|---|---|
| Location: | Xp11.22 |
| Sequence: | X; NC_000023.11 (53225784..53321356, complement) |
Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver.
Cytoplasm.



PMID: 26793055 by Kalscheuer V.M., et al. Novel missense mutation A789V in IQSEC2 underlies X-linked intellectual disability in the MRX78 family.
PMID: 20473311 by Shoubridge C., et al. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.