WormBase Tree Display for Gene: WBGene00004361
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| WBGene00004361 | SMap | S_parent | Sequence | K01G5 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | rib-2 | Person_evidence | WBPerson32 | |||||
| Sequence_name | K01G5.6 | ||||||||
| Molecular_name | K01G5.6 | ||||||||
| K01G5.6.1 | |||||||||
| CE16196 | |||||||||
| Other_name | CELE_K01G5.6 | Accession_evidence | NDB | BX284603 | |||||
| Public_name | rib-2 | ||||||||
| DB_info | Database (12) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:35 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | rib | ||||||||
| Allele (46) | |||||||||
| Legacy_information | [Lovett M, Clines G] rib-2 is a homolog of the human multiple exostoses gene family. The nucleotide and amino acid sequence was derived from yk3c1 and submitted to Genbank as accession number U94835. rib2 maps to YACs Y40C2 and Y56H10 on chromosome III. The multiple exostoses gene family (EXT) are putative tumor suppressors that have a role in vertebrate skeletal development. Mutations in genes EXT1 and EXT2 results in bony outgrowths from most bones including the ribs, and the "rib" designation was used to indicate this. | ||||||||
| Strain | WBStrain00036021 | ||||||||
| WBStrain00040625 | |||||||||
| WBStrain00049709 | |||||||||
| WBStrain00049670 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (32) | |||||||||
| Ortholog (40) | |||||||||
| Paralog | WBGene00004360 | Caenorhabditis elegans | From_analysis | Panther | |||||
| WormBase-Compara | |||||||||
| Structured_description | Concise_description | 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. | Paper_evidence | WBPaper00004103 | |||||
| WBPaper00004667 | |||||||||
| WBPaper00012864 | |||||||||
| WBPaper00013619 | |||||||||
| WBPaper00029050 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 13 Jun 2011 00:00:00 | ||||||||
| Automated_description | Enables enzyme binding activity and heparan sulfate N-acetylglucosaminyltransferase activity. Contributes to glucuronosyltransferase activity. Involved in embryonic morphogenesis; heparan sulfate proteoglycan biosynthetic process; and pharynx development. Located in protein-containing complex. Used to study hereditary multiple exostoses. Is an ortholog of human EXTL3 (exostosin like glycosyltransferase 3). | Paper_evidence | WBPaper00065943 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson37462 | |||||||||
| Inferred_automatically | This description was generated automatically by a script based on data from the WS291 version of WormBase | ||||||||
| Date_last_updated | 29 Nov 2023 00:00:00 | ||||||||
| Disease_info | Experimental_model | DOID:206 | Homo sapiens | Paper_evidence | WBPaper00029050 | ||||
| Accession_evidence | OMIM | 133700 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 31 Jan 2013 00:00:00 | ||||||||
| Disease_relevance | The rib-2 gene encodes an ortholog of human EXT2, which when mutated leads to hereditary multiple exostoses, type II; brother of tout-velou (botv), the Drosophila paralog of rib-2, is required for the diffusion of HEDGEHOG protein; EXT2 and its human paralog, EXT1, are ER-localized glycosyltransferases that form heterodimers and that are required for the synthesis of heparan sulfate; in elegans, the RIB-1 and RIB-2 proteins interact in vitro. | Homo sapiens | Paper_evidence | WBPaper00004103 | |||||
| WBPaper00004667 | |||||||||
| WBPaper00012864 | |||||||||
| WBPaper00013619 | |||||||||
| WBPaper00029050 | |||||||||
| Accession_evidence | OMIM | 133701 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 13 Jun 2011 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000004 | ||||||||
| Molecular_info | Corresponding_CDS | K01G5.6 | |||||||
| Corresponding_transcript | K01G5.6.1 | ||||||||
| Other_sequence (34) | |||||||||
| Associated_feature | WBsf645577 | ||||||||
| WBsf225754 | |||||||||
| WBsf225755 | |||||||||
| WBsf225756 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00027828 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00016411 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00001147 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00077497 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00006008 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00049636 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr12507 | ||||||||
| Expr1025212 | |||||||||
| Expr1032177 | |||||||||
| Expr1153364 | |||||||||
| Expr2015343 | |||||||||
| Expr2033577 | |||||||||
| Drives_construct | WBCnstr00035538 | ||||||||
| Construct_product | WBCnstr00035538 | ||||||||
| Microarray_results (19) | |||||||||
| Expression_cluster (83) | |||||||||
| Interaction | WBInteraction000136902 | ||||||||
| WBInteraction000522574 | |||||||||
| WBInteraction000565790 | |||||||||
| WBProcess | WBbiopr:00000001 | ||||||||
| WBbiopr:00000123 | |||||||||
| Map_info | Map | III | Position | 5.11472 | Error | 0.018448 | |||
| Positive | Positive_clone | K01G5 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Y40C2 | |||||||||
| Mapping_data | Multi_point | 4722 | |||||||
| Pseudo_map_position | |||||||||
| Reference (24) | |||||||||
| Remark | Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | |||||||
| Method | Gene |
