C27F2.4

Caenorhabditis elegans

Predicted to enable rRNA (guanine) methyltransferase activity. Predicted to be involved in rRNA (guanine-N7)-methylation. Predicted to be located in nucleolus. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor).

nsun-1

Caenorhabditis elegans

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in several processes, including negative regulation of cellular response to heat; negative regulation of locomotion involved in locomotory behavior; and positive regulation of reproductive process. Predicted to be located in nucleolus. Expressed widely. Used to study Williams-Beuren syndrome. Is an ortholog of human NOP2 (NOP2 nucleolar protein).

W09G3.7

Caenorhabditis elegans

Predicted to enable guanyl-nucleotide exchange factor activity and rRNA binding activity. Predicted to be involved in positive regulation of mitochondrial translation. Predicted to be located in mitochondrial inner membrane. Expressed in amphid neurons; hypodermis; and intestine. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human RCC1L (RCC1 like).

Sdr2

Mus musculus

PHENOTYPE: This locus controls level of liver serine dehydratase, but not of phosphoenolpyruvate carboxykinase, induced by a 48-hour fast. BALB/cJ carries the a allele for high induction level; AKR and most inbreds carry the b allele for low induction level. (BALB/cJ x AKR)F1 hybrids are intermediate. [provided by MGI curators]

drr-2

Caenorhabditis elegans

Predicted to enable RNA strand annealing activity; RNA strand-exchange activity; and ribosomal small subunit binding activity. Predicted to be involved in eukaryotic translation initiation factor 4F complex assembly and formation of translation preinitiation complex. Part of eukaryotic 48S preinitiation complex. Expressed in several structures, including coelomocyte; excretory canal; neurons; ventral nerve cord; and vulva. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Is an ortholog of human EIF4H (eukaryotic translation initiation factor 4H).

SPDYE1

Homo sapiens

This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]

Tol1

Mus musculus

PHENOTYPE: This locus controls susceptibility to induction of tolerance to bovine gamma-globulin (BCG). The dominant a allele determines susceptibility to induction of tolerance in DBA/2J; the b allele determines resistance in BALB/cJ. [provided by MGI curators]

Fzd9

Homo sapiens

Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]

nsun-5

Caenorhabditis elegans

Enables rRNA (cytosine-C5-)-methyltransferase activity. Involved in several processes, including negative regulation of cellular response to heat; negative regulation of locomotion involved in locomotory behavior; and positive regulation of rRNA processing. Predicted to be located in nucleolus. Used to study Williams-Beuren syndrome. Is an ortholog of human NSUN5 (NOP2/Sun RNA methyltransferase 5).

Es29

Mus musculus

PHENOTYPE: Activity variants for this testosterone-dependent structural esterase locus are detected by disc electrophoresis. Alleles are: SEG/1, null; BALB/cJ and most inbreds, strong activity; MOLH/Fre, weak activity. Expression also is partly controlled by a second locus, Mse1. [provided by MGI curators]