JCEG ID JCEG128
Name rib-2      WormBase    NCBI Gene
Human Ortholog

GGDB:EXTL3 EXTL2 EXT2 

OMIM: 133700 133701 602411 605744

OrthoList :   EXTL3  (Ensembl Compara)

GWAS Catalog
STREAMRAFp-valueORBETACIStudy
DOWNSTREAM 0.00000004 (Conditioned on rs11581062) 1.09 [1.08-1.11] 21833088
DOWNSTREAM 0.00000004 1.09 [1.08-1.11] 21833088
MAPPED 0.68 0.00000002 0.023 (unit increase) [0.0093-0.0367] 25429064
GGDB Score E-val
EXTL3 432 e-122
EXT2 229 1e-61
EXT1 156 1e-39
EXTL2 130 9e-32
EXTL1 112 2e-26
Option tblastn : Query Worm Protein, Subject GGDB mRNA, E-val < 0.00001
Family Name Glycosaminoglycan (GAG ) and Chitin synthesis genes
Locus Tag K01G5.6
RNAi phenotype
phenotype WT
Microscope observation (Image)
COPAS (Image)

Normal

hsp-4::GFP (Image)
Sequence Features kr:Detected
tm:Detected
dxd:DDD
gg_motif:M1, M2, M3, M4, M6
Sequence CDS
Protein
References

Clines GA, Ashley JA, Shah S, Lovett M Genome Res. (1997) 7 (4) :359-67 [PMID : 9110175] The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans.

Kitagawa H, Egusa N, Tamura JI, Kusche-Gullberg M, Lindahl U, Sugahara K J. Biol. Chem. (2000) 276 (7) :4834-8 [PMID : 11121397] rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate.

Bulik DA, Robbins PW Biochim. Biophys. Acta (2002) 1573 (3) :247-57 [PMID : 12417407] The Caenorhabditis elegans sqv genes and functions of proteoglycans in development.

Sugahara K, Mikami T, Uyama T, Mizuguchi S, Nomura K, Kitagawa H Curr. Opin. Struct. Biol. (2003) 13 (5) :612-20 [PMID : 14568617] Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate.

Morio H, Honda Y, Toyoda H, Nakajima M, Kurosawa H, Shirasawa T Biochem. Biophys. Res. Commun. (2003) 301 (2) :317-23 [PMID : 12565862] EXT gene family member rib-2 is essential for embryonic development and heparan sulfate biosynthesis in Caenorhabditis elegans.

Mizuguchi S, Uyama T, Kitagawa H, Nomura KH, Dejima K, Gengyo-Ando K, Mitani S, Sugahara K, Nomura K Nature (2003) 423 (6938) :443-8 [PMID : 12761550] Chondroitin proteoglycans are involved in cell division of Caenorhabditis elegans.

Franks DM, Izumikawa T, Kitagawa H, Sugahara K, Okkema PG Dev. Biol. (2006) 296 (2) :409-20 [PMID : 16828468] C. elegans pharyngeal morphogenesis requires both de novo synthesis of pyrimidines and synthesis of heparan sulfate proteoglycans.

Berninsone PM WormBook (2006) :1-22 [PMID : 18050430] Carbohydrates and glycosylation.

Burglin TR, Kuwabara PE WormBook (2006) :1-14 [PMID : 18050469] Homologs of the Hh signalling network in C. elegans.

Kitagawa H, Izumikawa T, Mizuguchi S, Dejima K, Nomura KH, Egusa N, Taniguchi F, Tamura J, Gengyo-Ando K, Mitani S, Nomura K, Sugahara K J. Biol. Chem. (2007) 282 (11) :8533-44 [PMID : 17237233] Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis.

Shaye DD, Greenwald I PLoS ONE (2011) 6 (5) :e20085 [PMID : 21647448] OrthoList: a compendium of C. elegans genes with human orthologs.

Berninsone PM, Hirschberg CB Glycoconj. J. 19 (4-5) :325-30 [PMID : 12975612] The nematode Caenorhabditis elegans as a model to study the roles of proteoglycans.

WormBase (WS254)

Functional Descriptions rib-2

The rib-2 gene encodes an ortholog of human EXT2; the family of EXT genes have GlcNAc transferase activities and are involved in the synthesis of heparin sulfate proteoglycans; rib-2 encodes an alpha 1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate; the RIB-2 protein interacts with RIB-1 and coexpression of RIB-2 and RIB-1 proteins in vitro results in glycosyltransferase and heparin sulphate polymerase activities; rib-2 is also required for proper embryonic development, suggesting that rib-2 and rib-1 are required for the biosynthesis of glycosaminoglycans during development.
Deletion Mutants gk318 qa4900 tm710
In Situ In Situ   
Expression Expression
db_name wbbt name def reliability expr_pattern paper WormAtlas
WB WBbt:0005813

body wall musculature "Longitudinal bands of muscle cells surrounding animal body, with one band running in each quadrant of the body, regulated contraction and relaxation of these muscles cause locomotion." [ISBN:0-87969-433-5] Enriched WBPaper00040985 : AIN-2_asynchronous_muscle
 WBPaper00040985 WormAtlas

WBGene00004361
Phenotype
Homology_paralog
Observed Observed and NOT Observed
Phenotype Definition RNAi / Allele
activity level variant

"Any variation in the degree of movement compared to control animals." [WB:cab]
Allele: WBVar00241210   WBPaper00005733   Observed
body elongation variant

"Any variation in the elongation of embryonic epidermal cells compared to control. In C. elegans, this elongation occurs along an anterior-posterior axis, which is required to transform the bean-shaped embryo into the elongated shape of the worm." [WB:WBPerson2021, WB:WBPerson557]
Allele: WBVar00249740   WBPaper00029050   Observed
body size variant

"Animals exhibit variations in the physical dimensions of its body compared to control animals of the same developmental stage." [WB:WBPerson712]
Allele: WBVar00241210   WBPaper00005733   Observed
cytoskeleton organization biogenesis variant

"Animals exhibit variations in the form, structure, composition or arrangement of any of the various filamentous elements that form the internal framework of cells, compared to control. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles." [GO:0005856, WB:WBPerson2021, WB:WBPerson557]
Allele: WBVar00241210   WBPaper00031153   Observed
Allele: WBVar00249740   WBPaper00031153   Observed
egg laying variant

" Animals exhibit variations in the stage of eggs laid, egg laying cycle, number of eggs or egg laying in response to stimuli compared to control." [pmid:11813735, pmid:9697864, WB:cab]
Allele: WBVar00241210   WBPaper00005733   Observed
embryonic arrest

"Cessation of development during any stage occurring after fertilization and until hatching compared to control." [WB:WBPerson712]
Allele: WBVar00241210   WBPaper00005733   Observed
embryonic lethal

"Animals die during embryonic development. In C. elegans, often assayed as refractile eggs that fail to hatch; when applied to large-scale RNAi screens in C. elegans, more than 10% of embryos die." [WB:cab, WB:WBPaper00000179, WB:WBPaper00004403, WB:WBPaper00004540, WB:WBPaper00004651, WB:WBPaper00004769, WB:WBPaper00005654, WB:WBPaper00024497, WB:WBPaper00024925, WB:WBPaper00025054]
Allele: WBVar00249740   WBPaper00029050   Observed
gastrulation variant

"Variations in the process by which the germ layers become positioned in an embryo compared to control animals. Gastrulation involves the proper ingression of small groups of cells at various times into the blastocoel space." [WB:WBPaper00027251, WB:WBPerson2021]
Allele: WBVar00241210   WBPaper00005733   Observed
growth rate variant

"The increase in size or mass of an organism over time during the lifespan of the organism or over any developmental stage(s) is not similar to that observed for control animals." [GO:0040007, WB:WBPerson712]
Allele: WBVar00241210   WBPaper00005733   Observed
life span variant

"Adult life span is either longer or shorter than typical of control animals." [GO:0008340, WB:cab, WB:WBPaper00005863, WB:WBPaper00026717, WB:WBPerson557]
Allele: WBVar00241210   WBPaper00005733   Observed
metabolic pathway variant

"Animals exhibit variations in processes that are responsible for chemical changes compared to control animals. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation." [GO:0008152, WB:WBPerson712]
Allele: WBVar00241210   WBPaper00005733   Observed
pharyngeal development variant

"Variations in the progression of the pharynx (feeding organ) over time, from its formation to the mature structure compared to control. In C. elegans the pharynx is divided into the anterior and posterior regions. The anterior region includes the corpus (procorpus and metacorpus - first bulb) and the posterior region includes the isthmus and terminal bulb (second bulb)." [GO:0043282, WB:WBPerson2021]
Allele: WBVar00241210   WBPaper00031153   Observed
Allele: WBVar00249740   WBPaper00031153   Observed
ventral enclosure variant

"Any variation in the process that regulates the migration of ventral epidermal cells toward the ventral midline (to encase underlying cells in an epithelial monolayer) in developing embryos compared to control." [WB:WBPaper00027244, WB:WBPerson2021]
Allele: WBVar00249740   WBPaper00029050   Observed


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