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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.