WormBase Tree Display for Gene: WBGene00003182
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| WBGene00003182 | SMap | S_parent | Sequence | W10D5 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | mef-2 | Person_evidence | WBPerson346 | |||||
| Sequence_name | W10D5.1 | ||||||||
| Molecular_name | W10D5.1 | ||||||||
| W10D5.1.1 | |||||||||
| CE25156 | |||||||||
| Other_name | CELE_W10D5.1 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | mef-2 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:31 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | mef | ||||||||
| Allele (63) | |||||||||
| Legacy_information | [C.elegansII] NMK. Encodes homolog of vertebrate MEF2.lacZ fusions indicate transcription after 1.5 fold stage in a few head cells, more extensive in most tissues except gut from 3-fold stage on, to adulthood. Cosmid F27D1. [KM] | ||||||||
| Strain | WBStrain00023597 | ||||||||
| WBStrain00023599 | |||||||||
| WBStrain00031135 | |||||||||
| WBStrain00031137 | |||||||||
| WBStrain00036571 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (24) | |||||||||
| Ortholog (51) | |||||||||
| Paralog | WBGene00006844 | Caenorhabditis elegans | From_analysis | Panther | |||||
| WormBase-Compara | |||||||||
| Structured_description | Concise_description | mef-2 encodes a transcription factor that is the sole C. elegans member of the MEF2 subgroup of MADS box transcription factors; loss of mef-2 activity does not result in a strong visible phenotype, although mef-2 mutant adults are slightly dumpy (Dpy); in vitro, MEF-2 is able to bind a consensus MEF2 DNA binding site and interact with the class II histone deacetylase encoded by C10E2.3 (hda-4/hda-7); mef-2 mRNA is detected at all stages of development and expression of mef-2 reporter gene fusions begins in neurons during late embryogenesis and continues in all tissues throughout postembryonic development; mef-2 mutations do not appear to interact with mutations in other myogenic factors such as hlh-1, hlh-8, pha-1, and unc-120. | Paper_evidence | WBPaper00004244 | |||||
| WBPaper00005287 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 05 Jul 2006 00:00:00 | ||||||||
| Automated_description | Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and histone deacetylase binding activity. Involved in several processes, including receptor guanylyl cyclase signaling pathway; regulation of acetylcholine secretion, neurotransmission; and regulation of transcription by RNA polymerase II. Located in nucleus. Expressed in several structures, including hypodermis. Used to study autism spectrum disorder and intellectual disability. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; lung cancer; and neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language. Is an ortholog of human MEF2A (myocyte enhancer factor 2A); MEF2C (myocyte enhancer factor 2C); and MEF2D (myocyte enhancer factor 2D). | 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:1059 | Homo sapiens | Paper_evidence | WBPaper00041363 | ||||
| Accession_evidence | OMIM | 613443 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 03 Oct 2018 00:00:00 | ||||||||
| DOID:0060041 | Homo sapiens | Paper_evidence | WBPaper00041363 | ||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 14 Jan 2014 00:00:00 | ||||||||
| Potential_model | DOID:0070050 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:6996) | |||||
| DOID:1324 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:6997) | ||||||
| DOID:12930 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:6993) | ||||||
| Disease_relevance | mef-2 encodes a protein orthologous to the human MEF2B, MEF2C and MEF2D proteins which are members of the MADS box transcription enhancer factor 2 family of proteins, which have both trans-activating and DNA binding activities; mutations in human MEF2C are associated with mental retardation, stereotypic movements, epilepsy and/or cerebral malformations; studies in C. elegans indicate that mef-2 along with the elegans synaptic adhesion molecules, Neurexin (nrx-1) and Neuroligin (nlg-1), mediates the retrograde synaptic signal from muscle to motor neurons which inhibits acetylcholine (ACh) release at neuromuscular junctions; human neurexin, neuroligin and MEF2 which are linked to autism spectrum disorders and schizophrenia, alter cognition based on their perturbation of synapse development and function; mutations inactivating nlg-1, nrx-1 and mef-2 in C. elegans, are all associated with prolonged ACh release; such studies support additional mechanisms by which synapse function can be perturbed, leading to cognitive disorders. | Homo sapiens | Paper_evidence | WBPaper00041363 | |||||
| Accession_evidence | OMIM | 613443 | |||||||
| 600662 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 15 Jan 2014 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000272 | ||||||||
| WBDOannot00000315 | |||||||||
| Molecular_info | Corresponding_CDS | W10D5.1 | |||||||
| Corresponding_transcript | W10D5.1.1 | ||||||||
| Other_sequence (13) | |||||||||
| Associated_feature (13) | |||||||||
| Gene_product_binds (1297) | |||||||||
| Transcription_factor | WBTranscriptionFactor000189 | ||||||||
| Experimental_info | RNAi_result | WBRNAi00055083 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00004466 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00075993 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00027634 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00112283 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00114708 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr58 | ||||||||
| Expr1062 | |||||||||
| Expr1063 | |||||||||
| Expr4397 | |||||||||
| Expr1016460 | |||||||||
| Expr1031509 | |||||||||
| Expr1158620 | |||||||||
| Expr1200087 | |||||||||
| Expr2013507 | |||||||||
| Expr2031741 | |||||||||
| Drives_construct | WBCnstr00010058 | ||||||||
| WBCnstr00011965 | |||||||||
| WBCnstr00036189 | |||||||||
| Construct_product | WBCnstr00007479 | ||||||||
| WBCnstr00007480 | |||||||||
| WBCnstr00007481 | |||||||||
| WBCnstr00007482 | |||||||||
| WBCnstr00010058 | |||||||||
| WBCnstr00011965 | |||||||||
| WBCnstr00016731 | |||||||||
| WBCnstr00021925 | |||||||||
| WBCnstr00036189 | |||||||||
| Antibody | WBAntibody00001839 | ||||||||
| Microarray_results (24) | |||||||||
| Expression_cluster (166) | |||||||||
| Interaction (90) | |||||||||
| Map_info | Map | I | Position | 3.53361 | Error | 0.009674 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | F27D1 | Person_evidence | WBPerson346 | |||||
| W10D5 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||||
| Mapping_data | Pos_neg_data | 8773 | |||||||
| Reference (45) | |||||||||
| Method | Gene |
