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).

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).

uaf-2

Caenorhabditis elegans

Enables pre-mRNA 3'-splice site binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be part of U2AF complex and spliceosomal complex. Is an ortholog of human U2AF1 (U2 small nuclear RNA auxiliary factor 1) and U2AF1L4 (U2 small nuclear RNA auxiliary factor 1 like 4).

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]

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).

Muc13

Homo sapiens

Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]

Luc7l3

Homo sapiens

This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]