WormBase Tree Display for Gene: WBGene00016539
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| WBGene00016539 | SMap | S_parent | Sequence | C39F7 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 6 | |||||||
| Name | CGC_name | madd-2 | Person_evidence | WBPerson1820 | |||||
| Sequence_name | C39F7.2 | ||||||||
| Molecular_name | C39F7.2a | ||||||||
| C39F7.2a.1 | |||||||||
| CE27581 | |||||||||
| C39F7.2b | |||||||||
| CE42345 | |||||||||
| C39F7.2c | |||||||||
| CE51042 | |||||||||
| C39F7.2b.1 | |||||||||
| C39F7.2c.1 | |||||||||
| Other_name | rax-1 | Person_evidence | WBPerson160 | ||||||
| trim-9 | Person_evidence | WBPerson232 | |||||||
| WBPerson11460 | |||||||||
| WBPerson274 | |||||||||
| Y50D4A.a | Curator_confirmed | WBPerson1983 | |||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| CELE_C39F7.2 | Accession_evidence | NDB | BX284605 | ||||||
| Public_name | madd-2 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:30:57 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 30 Mar 2009 16:33:08 | WBPerson9133 | Name_change | CGC_name | trim-9 | ||||
| 3 | 30 Apr 2010 11:15:49 | WBPerson2970 | Name_change | CGC_name | madd-2 | ||||
| Other_name | trim-9 | ||||||||
| 4 | 03 Mar 2011 09:42:53 | WBPerson2970 | Name_change | CGC_name | trim-9 | ||||
| Other_name | madd-2 | ||||||||
| 5 | 24 Mar 2011 10:05:31 | WBPerson2970 | Event | Acquires_merge | WBGene00044993 | ||||
| Name_change | Other_name | rax-1 | |||||||
| 6 | 28 Apr 2014 11:30:35 | WBPerson2970 | Name_change | CGC_name | madd-2 | ||||
| Other_name | trim-9 | ||||||||
| Acquires_merge | WBGene00044993 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | madd | ||||||||
| Allele (268) | |||||||||
| Strain | WBStrain00032432 | ||||||||
| WBStrain00033425 | |||||||||
| WBStrain00033426 | |||||||||
| WBStrain00007190 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (26) | |||||||||
| Ortholog (58) | |||||||||
| Paralog (19) | |||||||||
| Structured_description | Concise_description | madd-2 encodes a protein containing RBCC/TRIM, fibronectin type III, and SPRY domains that is the sole C. elegans member of the C1 subfamily of tripartite motif (TRIM) proteins and is homologous to mammalian TRIM9, TRIM67, and MID1/TRIM18, mutations in which result in Opitz G/BBB syndrome, a congenital malformation disorder affecting ventral midline structures and resulting in mental retardation; in C. elegans, MADD-2 functions cell autonomously as a specificity factor in an UNC-6/Netrin, and UNC-40/DCC-mediated pathway that regulates axon branch formation and attractive axon guidance in multiple neuronal types by potentiating UNC-40 activity; in addition, MADD-2 is required for ventral recruitment of MIG-10/Lamellopodin in the HSNs during outgrowth; MADD-2 also functions cell autonomously in body wall muscle in an UNC-40/DCC and UNC-73/Rho-GEF-mediated pathway to regulate muscle arm extension to ventral midline motor axons; MADD-2 exhibits E3 ubiquitin ligase activity in vitro, physically interacts with both UNC-40 and UNC-73, and may potentiate the in vivo interaction between UNC-40 and UNC-73; a MADD-2::GFP fusion protein is expressed in neurons, hypodermis, and muscle cells; expression is also seen in the anchor cell, the ventral uterine precursor cells and in the ray precursors and descendants in males; in neurons, MADD-2 colocalizes with UNC-40 to the ventral axon branches that require its function; in body wall muscle, MADD-2 localizes to the dense bodies and colocalizes to the muscle arm termini with UNC-40 and UNC-73. | Paper_evidence | WBPaper00032907 | |||||
| WBPaper00036484 | |||||||||
| WBPaper00036485 | |||||||||
| WBPaper00038152 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| Date_last_updated | 02 Apr 2014 00:00:00 | ||||||||
| Automated_description | Enables protein homodimerization activity; signaling receptor binding activity; and ubiquitin-protein transferase activity. Involved in cell projection organization; protein ubiquitination; and regulation of protein localization. Located in several cellular components, including cell leading edge; neuronal cell body; and striated muscle dense body. Expressed in several structures, including anchor cell; intestinal cell; muscle cell; neurons; and ray precursor cell. Used to study Opitz GBBB syndrome. Human ortholog(s) of this gene implicated in Opitz GBBB syndrome; anencephaly; and non-syndromic X-linked intellectual disability 101. Is an ortholog of human TRIM67 (tripartite motif containing 67) and TRIM9 (tripartite motif containing 9). | 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:0080697 | Homo sapiens | Paper_evidence | WBPaper00036485 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 16 Feb 2021 00:00:00 | ||||||||
| Potential_model | DOID:0060668 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:16280) | |||||
| DOID:0112048 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7096) | ||||||
| DOID:0080697 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7095) | ||||||
| Models_disease_asserted | WBDOannot00000855 | ||||||||
| WBDOannot00000856 | |||||||||
| WBDOannot00000857 | |||||||||
| Molecular_info | Corresponding_CDS | C39F7.2a | |||||||
| C39F7.2b | |||||||||
| C39F7.2c | |||||||||
| Corresponding_CDS_history | C39F7.2:wp188 | ||||||||
| Corresponding_transcript | C39F7.2a.1 | ||||||||
| C39F7.2b.1 | |||||||||
| C39F7.2c.1 | |||||||||
| Other_sequence (20) | |||||||||
| Associated_feature (21) | |||||||||
| Experimental_info | RNAi_result | WBRNAi00011797 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00065292 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00076206 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00042229 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00011796 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00020824 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00080808 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern (15) | |||||||||
| Drives_construct | WBCnstr00002505 | ||||||||
| WBCnstr00007149 | |||||||||
| WBCnstr00007634 | |||||||||
| WBCnstr00017575 | |||||||||
| Construct_product (13) | |||||||||
| Microarray_results (26) | |||||||||
| Expression_cluster (158) | |||||||||
| Interaction (28) | |||||||||
| Anatomy_function | WBbtf0412 | ||||||||
| WBbtf0413 | |||||||||
| WBbtf0598 | |||||||||
| Map_info | Map | V | Position | -19.8476 | Error | 0.000552 | |||
| Positive | Positive_clone | C39F7 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Pos_neg_data | 10757 | |||||||
| Pseudo_map_position | |||||||||
| Reference (15) | |||||||||
| 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 |
