, 51 genes

Gene list file name:Blumenthal2002_suppDGO
Type of gene identifier:Cosmid name
Description:A supplimentary table showing the disease gene operons organized by disease with a short description of each gene  
Organism:Caenorhabditis elegans (nematode)
Gene list type:Experimental

Gene name             Source Gene ID          Annotation                                                  Date       Added by    

B0261.1 B0261.1 P W All gene names: B0261.1; 1F835; CE29531; WBGene00015091; WP:CE29531
B0261.2 B0261.2 P W All gene names: CE-TOR; let-363; B0261.2; 1F831; CE32559; CE32560; CeTor; NM_059148; NM_059151; WBGene00002583; WP:CE32559; WP:CE32560 WormBase description: let-363 encodes, by alternative splicing, two large (>2600-residue) proteins with C-terminal similarity to phosphatidylinositol kinase (PIK); LET-363 proteins are orthologous to S. cerevisiae Tor1p and Tor2p and human FRAP1 (OMIM:601231, mammalian target of FKBP12-rapamycin); LET-363 proteins are required for progression through the L3 stage of larval development and are thought to generally stimulate translation of most or all mRNAs ('global translation'); LET-363 activity is also necessary for normal development and physiology of the intestine; LET-363 proteins are expressed ubiquitously, including a maternal contribution to the early embryo.
B0261.4 B0261.4 P W All gene names: B0261.4; 1F813; CE39547; CE39548; WBGene00015092; WP:CE39547; WP:CE39548
C01G8.2 C01G8.2 P W All gene names: cln-3.2; C01G8.2; 1F844; CE07802; NM_059155; WBGene00000540; WP:CE07802 WormBase description: cln-3.2 encodes a predicted transmembrane protein that comprises one of three C. elegans homologs of human CLN3 (OMIM:607042, mutations are associated with Batten disease (also known as juvenile neuronal ceroid lipofuscinosis), a recessively inherited childhood neurodegenerative lysosomal storage disease); loss of cln-3.2 activity via large-scale RNAi screens has been reported to result in either no defects or in embryonic lethality.
C01G8.3 C01G8.3 P W All gene names: dhs-1; C01G8.3; 1F848; CE07803; NM_059156; WBGene00000965; WP:CE07803 WormBase description: oxidoreductase
C01G8.4 C01G8.4 P W All gene names: dnj-4; C01G8.4; 1F850; CE26905; NM_059157; WBGene00001022; WP:CE26905 WormBase description: This gene encodes a protein containing a DnaJ ('J') domain.
C01G8.5 C01G8.5 P W All gene names: erm-1; C01G8.5; 1F852; CE07805; CE07806; NM_059158; NM_059159; P91016_CAEEL; WBGene00001333; WP:CE07805; WP:CE07806 WormBase description: The erm-1 gene encodes an ortholog of the ERM family of cytoskeletal linkers with approximately equal similarity to ezrin, radixin and moesin. WormBase CDS description: membrane protein
C04F12.10 C04F12.10 P W All gene names: Ce-face-1; fce-1; C04F12.10; 1K288; CE19683; NM_060181; WBGene00001405; WP:CE19683 WormBase description: fce-1 encodes an ortholog of 'farnesylated-proteins converting enzyme 1' (FACE-1), and thus probably enables post-translational processing of proteins (such as LET-60/RAS) carrying a C-terminal CaaX motif; FCE-1 protein probably accounts for the EDTA-sensitive, tosylphenylalanylchloromethane-insensitive component of CaaX-proteolytic activity in membrane extracts from C. elegans, and FCE-1 can cleave a farnesylated peptide in vitro; the S. cerevisiae homolog of FCE-1 (Ste24p) cleaves the precursor of yeast a-factor mating pheromone after its farnesylated cysteine residue, and transgenic FCE-1 rescues a mating defect of mutant yeast lacking both the Ste24p and the Rce1p CaaX-proteases. WormBase CDS description: Zinc-binding metalloprotease domain
C15F1.5 C15F1.5 P W All gene names: C15F1.5; 2H258; CE20510; CE39557; WBGene00015796; WP:CE20510; WP:CE39557 WormBase description: zinc finger protein
C15F1.6 C15F1.6 P W All gene names: art-1; C15F1.6; 2H262; CE20509; NM_063029; WBGene00000198; WP:CE20509 WormBase description: a protein similar to synaptic glycoprotein SC2 from mammals.
C15F1.7 C15F1.7 P W All gene names: sod-1; C15F1.7; C15F1.B; 2H264; CE20508; CE23550; NM_063030; WBGene00004930; WP:CE20508; WP:CE23550 WormBase description: The sod-1 gene encodes an ortholog of human SOD1 (OMIM:147450), which when mutated leads to amyotrophic lateral sclerosis (OMIM:105400).
C16C2.3 C16C2.3 P W All gene names: ocrl-1; C16C2.3; 1K292; CE17405; NM_060183; WBGene00007620; WP:CE17405 WormBase description: The C16C2.3 gene encodes an inositol-1,4,5-triphosphate 5-phosphatase homolog that is homologous to human OCRL. WormBase CDS description: inositol-1,4,5-triphosphate 5-phosphatase
C16C2.4 C16C2.4 P W All gene names: C16C2.4; 1K290; CE15621; WBGene00007621; WP:CE15621
C44C1.2 C44C1.2 P W All gene names: C44C1.2; CE30126; WBGene00016642; WP:CE30126; XB577
C48E7.2 C48E7.2 P W All gene names: C48E7.2; 1G833; CE08817; WBGene00016750; WP:CE08817
C48E7.4 C48E7.4 P W
D1037.5 D1037.5 P W All gene names: D1037.5; 1E258; CE39008; WBGene00017026; WP:CE39008 WormBase description: phospholipase
F12F6.3 F12F6.3 P W All gene names: rib-1; F12F6.3; 4M347; CE24898; NM_069779; WBGene00004360; WP:CE24898 WormBase description: The rib-1 gene encodes an ortholog of human EXT1, which when mutated leads to hereditary multiple exostoses, type I (OMIM:133700). WormBase CDS description: MULTIPLE EXOSTOSES HOMOLOG 1
F12F6.5 F12F6.5 P W All gene names: tag-13; F12F6.5; 4M341; CE20680; Q19370_CAEEL; WBGene00006406; WP:CE20680 WormBase description: chimaerin like
F18C5.2 F18C5.2 P W All gene names: wrn-1; F18C5.2; 2G849; CE31791; NM_062923; WBGene00006944; WP:CE31791 WormBase description: wrn-1 encodes an ortholog of human WRN, which when mutated leads to Werner syndrome (OMIM:277700), and one of four C. elegans homologs of the RecQ DNA helicase family that includes E. coli RecQ; by homology, WRN-1 is predicted to function as a helicase, DNA-dependent ATPase, and exonuclease that plays a key role in DNA replication, recombination, and repair; in C. elegans, loss of wrn-1 activity, via mutation or large-scale RNA-mediated interference (RNAi) screens, does not result in any obvious abnormalities, as animals are viable and fertile, have normal lifespans, and do not appear to have a high rate of genomic instability.
F18C5.3 F18C5.3 P W All gene names: tag-184; F18C5.3; 2G843; CE02652; WBGene00007050; WBGene00017558; WP:CE02652
F28B12.3 F28B12.3 P W All gene names: tag-223; vrk-1; F28B12.3; 2G213; CE02704; WBGene00017895; WP:CE02704 WormBase description: Protein kinase
F45G2.10 F45G2.10 P W All gene names: F45G2.10; 3O528; CE16053; WBGene00009736; WP:CE16053
F45G2.7 F45G2.7 P W All gene names: F45G2.7; 3O522; CE16050; WBGene00009733; WP:CE16050
F45G2.8 F45G2.8 P W All gene names: F45G2.8; 3O524; CE16051; WBGene00009734; WP:CE16051
F45G2.9 F45G2.9 P W All gene names: F45G2.9; 3O526; CE16052; WBGene00009735; WP:CE16052
F53H8.1 F53H8.1 P W All gene names: apm-3; apt-7; F53H8.1; CE35723; NM_075783; WBGene00000164; WP:CE35723; XB573 WormBase description: apt-7 gene encodes an adaptin, orthologous to the mu3 subunit of adaptor protein complex 3 (AP-3); APT-7 is also orthologous to human HPS, which when mutated leads to Hermansky-Pudlak syndrome (OMIM:203300); based on structural similarity, APT-7 may be involved in the formation of intracellular transport vesicles. WormBase CDS description: clathrin coat assembly protein
F59G1.1 F59G1.1 P W All gene names: cgt-3; F59G1.1; 2G205; CE29810; CE29811; CE30378; CE33409; WBGene00019127; WP:CE29810; WP:CE29811; WP:CE30378; WP:CE33409
F59G1.2 F59G1.2 P W All gene names: tsp-18; F59G1.2; 2G195; CE25926; NM_062777; WBGene00006644; WP:CE25926 WormBase description: transpanin
F59G1.3 F59G1.3 P W All gene names: vps-35; F59G1.3; 2G201; CE39945; NM_062779; WBGene00006933; WP:CE39945 WormBase description: S. cerevisiae vacuolar sorting protein
F59G1.5 F59G1.5 P W All gene names: ptp-2; stp-1; F59G1.5; 2G211; CE02705; NM_062783; WBGene00004214; WP:CE02705 WormBase description: ptp-2 encodes an SH2 domain-containing non-receptor protein tyrosine phosphatase; ptp-2 activity is required during development to regulate activity of several signaling pathways; in particular, ptp-2 activity is essential during oogenesis, where it functions upstream of, or in parallel to, let-60/Ras to positively regulate proper oocyte formation and hence, fertility and embryonic development; ptp-2 also functions downstream of, or in parallel to, let-60/Ras to modulate induction of vulval precursor cells, although this activity is not essential for normal vulval development; in addition, ptp-2 activity also regulates egl-15/FGF signaling to ensure proper body wall muscle membrane extension during formation of neuromuscular junctions. WormBase CDS description: PROTEIN-TYROSINE PHOSPHATASE
F59G1.7 F59G1.7 P W All gene names: frh-1; F59G1.7; 2G207; CE19476; NM_062782; WBGene00001486; WP:CE19476 WormBase description: frh-1 encodes the C. elegans frataxin ortholog;, by homology, FRH-1 is predicted to be a mitochondrial protein required for biogenesis of iron-sulfur clusters, co-factors necessary for proper function of electron transport chain proteins; in C. elegans, loss of frh-1 activity via RNAi results in small body size, pale coloration, reduced egg-laying and fertility, altered responses to oxidative stress, and a significant lifespan extension.
F59G1.8 F59G1.8 P W All gene names: F59G1.8; 2G197; CE26373; WBGene00019129; WP:CE26373
H26D21.2 H26D21.2 P W All gene names: msh-2; H26D21.2; 1E264; CE21000; NM_058801; WBGene00003418; WP:CE21000 WormBase description: The msh-2 gene encodes a DNA mismatch repair protein homolog that is orthologous to human MSH2 (OMIM:120435); mutation of the human MSH2 gene leads to hereditary non-polyposis colon cancer (OMIM:120436). WormBase CDS description: DNA mismatch repair protein
K08E3.7 K08E3.7 P W All gene names: pdr-1; K08E3.7; 3O861; CE31713; NM_067445; Q9XUS3_CAEEL; WBGene00003967; WP:CE31713 WormBase description: pdr-1 encodes an ortholog of human parkin (PARK2; OMIM:602544), which when mutated leads to the juvenile 2 form of Parkinson disease (OMIM:600116).
K08E3.8 K08E3.8 P W All gene names: mdt-29; K08E3.8; 3O867; CE18874; NM_067446; Q9XUS2_CAEEL; WBGene00007025; WP:CE18874 WormBase description: mdt-29 encodes a putative mediator subunit with a prion-like (asparagine- or glutamine-rich) domain; note that K08E3.8 is allegedly an ortholog of Drosophila INTERSEX/IX, but the actual C. elegans IX ortholog appears to be PQN-15); in yeast two-hybrid screens, MDT-29 interacts with SEL-7 and SEL-8; MDT-29 protein also self-associates; RNAi of K08E3.8 weakly enhances the two-anchor-cell phenotype of lin-12(ar170), roughly as much as sel-7 RNAi; since SEL-7 is a novel nuclear protein, MDT-29/SEL-7/SEL-8 is likely to form a nuclear complex formed in response to LIN-12 activation.
T01H8.1 T01H8.1 P W All gene names: rskn-1; T01H8.1; 1J150; CE34493; CE34494; CE34495; CE38217; CE41000; KS6A1_CAEEL; NM_059918; NM_059919; WBGene00011352; WP:CE34493; WP:CE34494; WP:CE34495; WP:CE38217; WP:CE41000 WormBase description: Protein kinase C terminal domain
T01H8.2 T01H8.2 P W All gene names: T01H8.2; 1J146; CE13016; WBGene00011353; WP:CE13016 WormBase description: threonine dehydratase
Y110A7A.4 Y110A7A.4 P W All gene names: Y110A7A.4; 1F707; CE24124; WBGene00022455; WP:CE24124 WormBase description: thymidylate synthase
Y110A7A.5 Y110A7A.5 P W All gene names: mtm-1; Y110A7A.5; 1F705; CE30707; NM_059130; WBGene00003475; WP:CE30707 WormBase description: mtm-1 encodes an ortholog of human myotubularin (MTM1), which when mutated leads to myotubular myopathy (OMIM:310400); mtm-1(RNAi)suppresses the endocytosis defect of let-512 mutants, indicating that MTM-1 negatively regulates LET-512 (a phosphatidylinositol 3-kinase orthologous to yeast Vps34). WormBase CDS description: myotubularin-like protein
Y110A7A.6 Y110A7A.6 P W All gene names: Y110A7A.6; 1F701; CE29606; CE38000; WBGene00022456; WP:CE29606; WP:CE38000 WormBase description: phosphofructokinase
Y110A7A.7 Y110A7A.7 P W All gene names: Y110A7A.7; 1F699; CE23251; WBGene00022457; WP:CE23251
Y110A7A.8 Y110A7A.8 P W All gene names: phi-5; Y110A7A.8; 1F697; CE24126; WBGene00022458; WP:CE24126 WormBase description: Y110A7A.8 is orthologous to the human gene U4/U6 SNRNP-ASSOCIATED 61 KDA PROTEIN (PRPF31; OMIM:600138), which when mutated leads to disease. WormBase CDS description: mRNA splicing protein
Y56A3A.13 Y56A3A.13 P W All gene names: nft-1; Y56A3A.13; 3N17; CE22580; NFT1_CAEEL; NM_067155; NitFhit; WBGene00003594; WP:CE22580 WormBase description: The nft-1 gene encodes an ortholog of human FHIT, which when mutated is associated with head and neck cancers (OMIM:601153).
Y56A3A.21 Y56A3A.21 P W All gene names: Y56A3A.21; 3N11; CE22589; Q9U238_CAEEL; WBGene00013238; WP:CE22589
Y56A3A.22 Y56A3A.22 P W All gene names: Y56A3A.22; 3N13; CE26190; WBGene00013239; WP:CE26190
Y76A2A.2 Y76A2A.2 P W All gene names: cua-1; tag-21; Y76A2A.2; 3O530; CE26305; NM_067377; WBGene00000834; WP:CE26305 WormBase description: The cua-1 gene encodes a putative E1-E2 ATPase orthologous to the human gene KIAA1347 (ATP7A; OMIM:604384), which when mutated leads to Hailey-Hailey disease. WormBase CDS description: Heavy-metal-associated domain containing proteins (2 domains), E1-E2 ATPases (2 domains)
ZK675.1 ZK675.1 P W All gene names: ptc-1; ZK675.1; 2I189; CE01720; NM_063261; WBGene00004208; WP:CE01720 WormBase description: ptc-1 encodes an ortholog of Drosophila PATCHED (PTC) and human PTCH (OMIM:601309, mutated in basal cell nevus syndrome), which defines one of seven paralogous families of sterol sensing domain (SSD) proteins; PTC-1 is required for cytokinesis in the germline, but not in somatic cells (the converse of PTR-2's function, and a role conserved in C. briggsae); PTC-1 is also required to isolate meiotic germline nuclei from one another so that their nuclear divisions are asynchronous; PTC-1 is (very weakly) required for normal molting; PTC-1 protein is found in the membranes of all germline cells except sperm; ptc-1 transcripts are present in germline, very early (2- and 4-cell) embryos, and in the germline precursor P4; ptc-1 null mutants have normal somatic tissues, but are sterile with multinucleate oocytes; murine PTCH is found in midbodies by mass tandem spectroscopy, indicating that PTC-1's function in cytokinesis may be conserved among metazoa; since PTC-1 has an SSD, PTC-1's core function may be to transport proteins, lipids, or sterols. WormBase CDS description: membrane protein patched
ZK675.2 ZK675.2 P W All gene names: rev-1; ZK675.2; 2I193; CE01721; NM_063262; WBGene00014066; WP:CE01721 WormBase description: DNA repair protein (REV1)