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).

drr-2

Caenorhabditis elegans

Predicted to enable RNA binding activity. 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).

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).

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]

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).

dkf-1

Caenorhabditis elegans

Enables protein serine/threonine kinase activity. Involved in several processes, including defense response to Gram-positive bacterium; determination of adult lifespan; and positive regulation of protein import into nucleus. Acts upstream of or within with a positive effect on neuromuscular synaptic transmission. Located in several cellular components, including axon; cell cortex; and somatodendritic compartment. Expressed in neurons.

Cfap410

Homo sapiens

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]

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]

wap

Drosophila melanogaster

wings apart (wap) encodes a protein required for growth, viability, muscle development, and proper wing venation. It physically interacts with the product of ds, and functions in the Hippo pathway to regulate growth.