This website uses cookies to ensure you get the best experience on our website.
- 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.