WormBase Tree Display for Gene: WBGene00006787
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| WBGene00006787 | SMap | S_parent | Sequence | CHROMOSOME_II | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | unc-52 | Person_evidence | WBPerson261 | |||||
| Sequence_name | ZC101.2 | ||||||||
| Molecular_name (49) | |||||||||
| Other_name | CELE_ZC101.2 | Accession_evidence | NDB | BX284602 | |||||
| Public_name | unc-52 | ||||||||
| DB_info | Database (13) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:42 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 03 Mar 2017 00:18:26 | WBPerson1983 | Event | Acquires_merge | WBGene00013851 | ||||
| Acquires_merge | WBGene00013851 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | unc | ||||||||
| Reference_allele | WBVar00143214 | ||||||||
| Allele (702) | |||||||||
| Possibly_affected_by | WBVar02152950 | ||||||||
| WBVar02152951 | |||||||||
| WBVar02152902 | |||||||||
| WBVar02152903 | |||||||||
| Legacy_information | e444 : adults limp paralysed except for head region thin Egl; larvae move well; progressive dystrophy posterior muscles fail to accumulate myofilaments. ES3 (adult) ME0. NA > 10 (e669amber (well suppressed) e998 (stronger phenotype) r290 etc.). | ||||||||
| See also e444, e669, e998, e1012, e1421 | |||||||||
| [C.elegansII] e444 : adults limp, paralysed except for head region; thin; Egl; larvae move well; progressive dystrophy, body muscles fail to accumulate myofilaments. Class 1 allele. ES3 (adult) ME0. OA>10 (class 1): e669amb (well suppressed), e998 (stronger phenotype), su200, r290 etc. Also class 2 mutations: st549 (lethal, severe Pat, no organized myofilament lattice; probable null), st546, st560 etc. (all similar to st549). Also class 3 mutation: ut111 (lethal, arrest at two-fold; not paralysed; complements class 1 alleles. See also sup-38, smu. Cloned: multiple transcripts (4.0, 6.5, 8.0 kb)g enerated by alternative RNA processing; encode proteins related to perlecan (matrix heparansulfate proteoglycan)[Rogalski et al. 1993, 1995; DM] | |||||||||
| Strain (294) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (37) | |||||||||
| Ortholog (39) | |||||||||
| Paralog | WBGene00001328 | Caenorhabditis elegans | From_analysis | Panther | |||||
| WormBase-Compara | |||||||||
| WBGene00002247 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00002248 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00006432 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00006746 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00018304 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00016913 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00020581 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| Structured_description | Concise_description | The unc-52 gene encodes perlecan, a protein orthologous to human basement membrane-specific heparan sulfate proteoglycan core protein (HSPG2; OMIM:142461, which when mutated leads to Schwartz-Jampel syndrome or dyssegmental dysplasia); UNC-52 plays essential roles in muscle structure development and regulation of growth factor-like signaling pathways; UNC-52 is synthesized by the hypodermis and localizes to the extracellular matrix between hypodermis and muscle. | Paper_evidence | WBPaper00005261 | |||||
| WBPaper00005568 | |||||||||
| WBPaper00005809 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | An extracellular matrix structural constituent. Involved in several processes, including hemidesmosome assembly; muscle cell cellular homeostasis; and muscle structure development. Located in basement membrane and striated muscle dense body. Expressed in alimentary muscle; body wall musculature; gonad; and pharyngeal-intestinal valve. Human ortholog(s) of this gene implicated in several diseases, including Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and hyperglycemia. Is an ortholog of human HSPG2 (heparan sulfate proteoglycan 2). | 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 | Potential_model | DOID:0090032 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||
| DOID:0090005 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||||
| DOID:4195 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||||
| DOID:3407 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||||
| DOID:2256 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:5273) | ||||||
| Molecular_info | Corresponding_CDS (16) | ||||||||
| Corresponding_CDS_history | ZC101.2d:wp274 | ||||||||
| Corresponding_transcript (17) | |||||||||
| Other_sequence (130) | |||||||||
| Associated_feature (48) | |||||||||
| Experimental_info | RNAi_result (85) | ||||||||
| Expr_pattern (12) | |||||||||
| Drives_construct | WBCnstr00002344 | ||||||||
| WBCnstr00004314 | |||||||||
| WBCnstr00034151 | |||||||||
| Construct_product | WBCnstr00000996 | ||||||||
| WBCnstr00000997 | |||||||||
| WBCnstr00001000 | |||||||||
| WBCnstr00001001 | |||||||||
| WBCnstr00001002 | |||||||||
| WBCnstr00034151 | |||||||||
| Antibody | WBAntibody00000069 | ||||||||
| WBAntibody00000104 | |||||||||
| WBAntibody00000243 | |||||||||
| WBAntibody00002529 | |||||||||
| Microarray_results (76) | |||||||||
| Expression_cluster (328) | |||||||||
| Interaction (249) | |||||||||
| WBProcess | WBbiopr:00000006 | ||||||||
| Map_info | Map | II | Position | 23.3333 | Error | 0.020195 | |||
| Well_ordered | |||||||||
| Positive | Inside_rearr | jDf1 | |||||||
| mnDp34 | |||||||||
| mnDp35 | |||||||||
| mnDp36 | |||||||||
| mT1 | |||||||||
| Positive_clone | RW#DM44 | ||||||||
| YK1120 | |||||||||
| ZC101 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||||
| Mapping_data | 2_point (19) | ||||||||
| Multi_point (35) | |||||||||
| Pos_neg_data (7) | |||||||||
| Landmark_gene | |||||||||
| Reference (256) | |||||||||
| Method | Gene |
