WormBase Tree Display for Gene: WBGene00018371
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| WBGene00018371 | SMap | S_parent | Sequence | F42H10 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | ess-2 | Person_evidence | WBPerson242 | |||||
| Sequence_name | F42H10.7 | ||||||||
| Molecular_name | F42H10.7a | ||||||||
| F42H10.7a.1 | |||||||||
| CE00169 | |||||||||
| F42H10.7b | |||||||||
| CE37109 | |||||||||
| F42H10.7b.1 | |||||||||
| Other_name | CELE_F42H10.7 | Accession_evidence | NDB | BX284603 | |||||
| Public_name | ess-2 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:00 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 07 Jan 2009 13:42:37 | WBPerson2970 | Name_change | CGC_name | ess-2 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | ess | ||||||||
| Allele (24) | |||||||||
| Strain | WBStrain00033236 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00042233 | ||||||||
| 00042234 | |||||||||
| 00042235 | |||||||||
| 00042236 | |||||||||
| 00042237 | |||||||||
| Ortholog (36) | |||||||||
| Structured_description | Automated_description | Located in nucleus. Expressed in several structures, including body wall musculature; neurons; pharynx; and seam cell. Used to study DiGeorge syndrome and velocardiofacial syndrome. Is an ortholog of human ESS2 (ess-2 splicing factor homolog). | 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:11198 | Homo sapiens | Paper_evidence | WBPaper00045690 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 12 Sep 2017 00:00:00 | ||||||||
| DOID:12583 | Homo sapiens | Paper_evidence | WBPaper00045690 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 28 Feb 2017 00:00:00 | ||||||||
| Disease_relevance | 22q11.2 deletion syndrome (22q11.2DS) is the most common human deletion syndrome caused by deletion of a small piece of chromosome 22, characterized by neurodevelopmental defects, schizophrenia, congenital cardiac and craniofacial abnormalites (includes DiGeorge Syndrome and velocardiofacial syndrome); the 22q11.2 deletion overlaps several protein-coding genes including DGCR14; ess-2 is a C. elegans ortholog of human DGCR14, loss of function in ess-2 suppresses rpm-1 ubiquitin E3 ligase only in the presence of a dlk-1 map kinase splice acceptor mutation; ESS-2 acts to promote accurate mRNA splicing when the splice site is compromised providing the first functional evidence that this family of proteins regulate mRNA splicing in a context-specific manner; ess-2 mutant phenotypes include higher frequency of male progeny, meiotic prophase defects, and deregulated mRNA processing. | Homo sapiens | Paper_evidence | WBPaper00047004 | |||||
| WBPaper00045690 | |||||||||
| Accession_evidence | OMIM | 611867 | |||||||
| 239500 | |||||||||
| 600850 | |||||||||
| 606810 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 15 Sep 2015 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000363 | ||||||||
| WBDOannot00000390 | |||||||||
| Molecular_info | Corresponding_CDS | F42H10.7a | |||||||
| F42H10.7b | |||||||||
| Corresponding_CDS_history | F42H10.7:wp127 | ||||||||
| Corresponding_transcript | F42H10.7a.1 | ||||||||
| F42H10.7b.1 | |||||||||
| Other_sequence (29) | |||||||||
| Associated_feature | WBsf651282 | ||||||||
| WBsf227145 | |||||||||
| Experimental_info | RNAi_result (11) | ||||||||
| Expr_pattern | Expr7555 | ||||||||
| Expr14992 | |||||||||
| Expr1019172 | |||||||||
| Expr1037915 | |||||||||
| Expr1151012 | |||||||||
| Expr2011374 | |||||||||
| Expr2029610 | |||||||||
| Drives_construct | WBCnstr00012700 | ||||||||
| WBCnstr00026572 | |||||||||
| WBCnstr00041866 | |||||||||
| Construct_product | WBCnstr00026572 | ||||||||
| Microarray_results (23) | |||||||||
| Expression_cluster (120) | |||||||||
| Interaction (43) | |||||||||
| Map_info | Map | III | Position | -0.25656 | Error | 0.000591 | |||
| Positive | Positive_clone | F42H10 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00028564 | ||||||||
| WBPaper00035598 | |||||||||
| WBPaper00038491 | |||||||||
| WBPaper00045690 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00063976 | |||||||||
| 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 |
