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Table 1 Identified candidate genes for diseases involving mental retardation.

From: The systematic functional characterisation of Xq28 genes prioritises candidate disease genes

Gene cb hc ob pc Intracellular localisation Hs Mm Rn Xt Gg Dr Fr Dm Ce Sc Ag Pf Potential function
known mental retardation genes
SLC6A8 X X X   n.a. X X X X   X X       creatin transporter
MECP2 X X X   nucleus X X X X   X X       methyl CpG-binding protein, regulator
of gene expression
GDI X X X   cytoplasm X X X X   X X X X X X   RabGDP-dissociation inhibitor involved in synaptic
vesicle fusion, neuronal morphogenesis
NDP X X X   n.a. X X X   X X        growth factor
FMR2 X X    n.a. X X X X X X        
L1CAM   X X   n.a. X X X X X         integral membrane glycoprotein
novel candidates for mental retardation
ATP6AP1 X X X X endoplasmic reticulum X X X X X X X       subunit of a vacuolar H-ATPase
HCFC1 X X X   nucleus* X X   X   X X X    X   transcription factor
IDH3G X X X   mitochondria X X X X   X X X X X X   NAD(+)-dependent isocitrate dehydrogenase
CD99L2 X X X   centrosomes X X X X   X X       unknown function
FAM11A X     endoplasmic reticulum X X X X X X    X     unknown function
HCBP6 X     mitochondria X X            unknown function
BCAP31 X     endoplasmic reticulum X X X    X   X X X X   regulator of the turnover of endoplasmic
reticulum-associated protein
tyrosine phosphatase-like B (Yeast)
IRAK1   X   X n.a. X X   X    X X X   X   serine/threonine kinase
RPL10   X    nucleus-nucleolus X X X X   X X X X X X X ribosomal protein
PDZK4   X X   nucleus-nucleolus X X   X          unknown function
STK23 X   X   cytoplasm & nucleus aggregates X X X X     X X   X   serine/threonine kinase
BGN    X X n.a. X X X X   X X       connective tissue metabolism by
binding to collagen fibrils and
transferring growth factor-beta
CETN2     X cytoplasm & nucleus X X X X X X X     X   calcium-binding protein, structural
component of the centrosome
  1. The upper six rows of the table show brain expression patterns, subcellular localisation, evolutionary conservation, and potential molecular function of known mental retardation genes. All other rows list the respective information of a subset of analysed genes found to be expressed in brain. Boxes marked with "X" represent enhanced expression in the respective region (columns 3–6) or existence of an ortholog in the listed species (columns 8–19). Orthologs in other species have been queried from NCBI HomoloGene [45] and Ensemble [46] genome browser. cb: cerebellum, hc: Hippocampus, ob: olfactory bulb, pc: plexus choroideus, Hs: Homo sapiens, Mm: Mus musculus, Rn: Rattus norvegicus, Xt: Xenopus tropicalis, Gg: Gallus gallus, Dr: Danio rerio, Fr: fugu rubripes, Dm: Drosophila melanogaster, Ce: Caenorhabditis elegans, Sc: Saccharomyces cerevisiae, Ag: Anopheles gambiae, Pf: Plasmodium falciparum.