WormBase Tree Display for Gene: WBGene00006836
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| WBGene00006836 | SMap | S_parent | Sequence | C47E8 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | unc-112 | Person_evidence | WBPerson261 | |||||
| Sequence_name | C47E8.7 | ||||||||
| Molecular_name | C47E8.7 | ||||||||
| C47E8.7.1 | |||||||||
| CE05443 | |||||||||
| Other_name | CELE_C47E8.7 | Accession_evidence | NDB | BX284605 | |||||
| Public_name | unc-112 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:43 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | unc | ||||||||
| Allele (67) | |||||||||
| Possibly_affected_by | WBVar02153017 | ||||||||
| Legacy_information | r367 : adults paralysed and thin except for head region; Egl; disorganized body wall muscle; partial suppressor of unc-105(n490); young larvae nearly wild type (phenotypes very similar to unc-52). ES3 (adult) ME0. NA1. | ||||||||
| [Williams BD] Severe Pat (paralysed arrest at two-fold) phenotype in these two alleles; st562 homozygotes exhibit some pharyngeal pumping. | |||||||||
| [C.elegansII] r367 : adults paralysed and thin except for head region; Egl; disorganized body wall muscle, frayed myofilament lattice; partial suppressor of unc-105(n490); young larvae nearly wild type (phenotypes very similar to unc-52). ES3 (adult) ME0. OA2: st562 (severe Pat (paralysed arrest at two-fold),some pharyngeal pumping), st581 (Pat). Probable dense body component. [Williams and Waterston 1994; DM; TR; RW] | |||||||||
| Strain (16) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (39) | |||||||||
| Ortholog (49) | |||||||||
| Paralog | WBGene00006771 | Caenorhabditis elegans | From_analysis | TreeFam | |||||
| Structured_description | Concise_description | The unc-112 gene encodes a pleckstrin homology domain-containing protein, orthologous to human Mitogen inducible gene-2, that is required for assembly of muscle dense bodies and M lines during embryogenesis; UNC-112 is a dense body/M-line component and requires PAT-3/beta-integrin, UNC-52/perlecan, and PAT-4/integrin-linked kinase for proper localization; UNC-112 binds PAT-4 directly, forms a ternary complex with PAT-4 and PAT-6/actopaxin, and is required for recruitment of PAT-3 and PAT-4 to muscle cell attachment sites; viable unc-112 mutations are suppressed by mutation of dim-1. | Paper_evidence | WBPaper00004212 | |||||
| WBPaper00005261 | |||||||||
| WBPaper00005804 | |||||||||
| WBPaper00005915 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Enables integrin binding activity; protein self-association; and protein-macromolecule adaptor activity. Involved in several processes, including muscle cell cellular homeostasis; positive regulation of supramolecular fiber organization; and regulation of engulfment of apoptotic cell. Located in cell-substrate junction; contractile fiber; and plasma membrane. Expressed in body wall musculature; non-striated muscle; and spermatheca. Used to study Kindler syndrome. Human ortholog(s) of this gene implicated in several diseases, including Kindler syndrome; leukocyte adhesion deficiency (multiple); and telangiectasis. Is an ortholog of human FERMT1 (FERM domain containing kindlin 1) and FERMT2 (FERM domain containing kindlin 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 (2) | |||||||||
| Models_disease_asserted | WBDOannot00000772 | ||||||||
| Molecular_info | Corresponding_CDS | C47E8.7 | |||||||
| Corresponding_transcript | C47E8.7.1 | ||||||||
| Other_sequence (87) | |||||||||
| Associated_feature (17) | |||||||||
| Experimental_info | RNAi_result (55) | ||||||||
| Expr_pattern | Expr944 | ||||||||
| Expr3524 | |||||||||
| Expr1020634 | |||||||||
| Expr1032897 | |||||||||
| Expr1146680 | |||||||||
| Expr2017838 | |||||||||
| Expr2035974 | |||||||||
| Drives_construct | WBCnstr00019296 | ||||||||
| WBCnstr00019329 | |||||||||
| WBCnstr00034127 | |||||||||
| Construct_product (13) | |||||||||
| Antibody | WBAntibody00000872 | ||||||||
| WBAntibody00001661 | |||||||||
| Microarray_results | SMD_C47E8.7 | ||||||||
| SMD_C47E8.7:2 | |||||||||
| 172018_x_at | |||||||||
| 193683_s_at | |||||||||
| A_12_P112302 | |||||||||
| A_12_P133435 | |||||||||
| A_12_P133436 | |||||||||
| Aff_C47E8.7 | |||||||||
| GPL13394_WBGene00006836 | |||||||||
| GPL13914_C47E8.7 | |||||||||
| GPL14144_C47E8.7_1521-1580_0.899_18_C | |||||||||
| GPL14144_C47E8.7_1773-1832_0.946_1_A | |||||||||
| GPL14144_C47E8.7_1857-1916_0.920_8_B | |||||||||
| GPL19516_CGZ0009550 | |||||||||
| GPL19516_CGZ0009551 | |||||||||
| GPL21109_C47E8.7.1 | |||||||||
| GPL3518_CE05443 | |||||||||
| GPL8304_CE_WBGene00006836_A | |||||||||
| GPL8673_C47E8_7P00788 | |||||||||
| GPL8673_C47E8_7P01147 | |||||||||
| GPL8673_C47E8_7P01667 | |||||||||
| GPL9450_C47E8.7 | |||||||||
| cea2.c.34556 | |||||||||
| Expression_cluster (155) | |||||||||
| Interaction (86) | |||||||||
| Anatomy_function | WBbtf0612 | ||||||||
| WBProcess | WBbiopr:00000006 | ||||||||
| Map_info | Map | V | Position | 6.69969 | Error | 0.007226 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | C47E8 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 3024 | |||||||
| 4558 | |||||||||
| Reference (69) | |||||||||
| Remark | Data extracted from Williams & Waterston 1994 | ||||||||
| Method | Gene |
