WormBase Tree Display for Gene: WBGene00011230
expand all nodes | collapse all nodes | view schema
| WBGene00011230 | SMap | S_parent | Sequence | R11A5 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | nud-2 | Person_evidence | WBPerson87 | |||||
| Sequence_name | R11A5.2 | ||||||||
| Molecular_name | R11A5.2 | ||||||||
| R11A5.2.1 | |||||||||
| CE12724 | |||||||||
| Other_name | CELE_R11A5.2 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | nud-2 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 26 May 2004 16:54:52 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
| 2 | 13 Oct 2006 11:39:39 | WBPerson2970 | Name_change | CGC_name | nud-2 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | nud | ||||||||
| Allele (36) | |||||||||
| Possibly_affected_by | WBVar02153209 | ||||||||
| Strain | WBStrain00031730 | ||||||||
| WBStrain00024310 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (27) | |||||||||
| Ortholog (34) | |||||||||
| Structured_description | Concise_description | nud-2 encodes an ortholog of human NDE1 and NDEL1, effectors of LIS1; NUD-2, along with other orthologs of LIS1-associated proteins (NUD-1, DHC-1, CDK-5, and CDKA-1), is required to prevent convulsions induced by exposure to the GABA antagonist pentylenetetrazole (PTZ); nud-2(RNAi), like RNAi of nud-1 et al., not only induces PTZ susceptibility but also causes GABA-containing synaptic vesicles in the ventral nerve cord to be distributed raggedly, and nud-2(RNAi) animals are abnormally susceptible to paralysis by the GABA agonist muscimol; nud-2(RNAi) phenotypes are dominantly enhanced by a heterozygous lis-1 allele, and nud-2(RNAi) delays the recovery from PTZ-induced paralysis of lis-1 heterozygotes. | Paper_evidence | WBPaper00028525 | |||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 06 Jan 2007 00:00:00 | ||||||||
| Automated_description | Predicted to enable microtubule binding activity. Involved in GABAergic synaptic transmission; nuclear migration; and synaptic vesicle transport. Located in nuclear envelope. Expressed in several structures, including germ cell; hypodermal cell; non-striated muscle; rectal valve cell; and tail hypodermis. Used to study epilepsy and lissencephaly. Human ortholog(s) of this gene implicated in lissencephaly 4 and schizophrenia. Is an ortholog of human NDE1 (nudE neurodevelopment protein 1) and NDEL1 (nudE neurodevelopment protein 1 like 1). | 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:1826 | Homo sapiens | Paper_evidence | WBPaper00028525 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Aug 2021 00:00:00 | ||||||||
| DOID:0050453 | Homo sapiens | Paper_evidence | WBPaper00028525 | ||||||
| Accession_evidence | OMIM | 607432 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 17 Apr 2013 00:00:00 | ||||||||
| Potential_model | DOID:0112235 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17619) | |||||
| DOID:5419 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17620) | ||||||
| Disease_relevance | In humans, mutations in the LIS1 gene (Platelet activating factor acetylhydrolase, isoform 1B, alpha subunit; PAFAH1B1) and the LIS1 pathway, are implicated in Lissencephaly, a developmental abnormality associated with a failure of neuronal migration in the cerebral cortex, leading to mental retardation and epilepsy; human NDE1 and NDEL1, are effectors of LIS1; the elegans genetic model for epileptic siezures consists of lis-1 mutants that are responsive to the common seizure inducer pentylenetetrazole (PTZ) and diplay a distinct convulsive phenotype; elegans nud-2 is orthologous to human NDE1, in humans NDE1 and LIS1 interact in cerebral cortical development; elegans nud-2 and lis-1 physically interact and nud-2 knockdown (via RNA interference) animals convulse in response to PTZ; the percentage of nud-2 animals showing convulsions in response to PTZ increases when nud-2 mutants are combined with lis-1 homozygous animals (human lissencephaly is caused by a haploinsufficiency and is more accurately reflected by lis-1 heterozygous animals (lis-1/+); also wild-type animals recovered, when removed from PTZ exposure, while lis-1, nud-2 and lis-1/nud-2 mutants were less likely to recover, when removed from chemical exposure; these studies show that while knocking down target genes (lis-1, cdk-5, and cdka-1 that function in neuronal migration), and their interacting proteins like nud-1, nud-2 and dhc-1, does not yield spontaneous convulsions in C. elegans, further alterations in the neural environment through the application of PTZ serve to pass a critical threshold within these animals. | Homo sapiens | Accession_evidence | OMIM | 609449 | ||||
| 607538 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Models_disease_in_annotation | WBDOannot00000149 | ||||||||
| WBDOannot00001011 | |||||||||
| Molecular_info | Corresponding_CDS | R11A5.2 | |||||||
| Corresponding_transcript | R11A5.2.1 | ||||||||
| Other_sequence | CR02158 | ||||||||
| CBC07662_1 | |||||||||
| CRC07132_1 | |||||||||
| MH08523 | |||||||||
| Associated_feature (11) | |||||||||
| Experimental_info | RNAi_result | WBRNAi00051757 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00091236 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00082928 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00082899 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00034847 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00008201 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00091237 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00090804 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr2029 | ||||||||
| Expr4249 | |||||||||
| Expr8887 | |||||||||
| Expr13694 | |||||||||
| Expr15125 | |||||||||
| Expr1012709 | |||||||||
| Expr1034929 | |||||||||
| Expr1155422 | |||||||||
| Expr2014525 | |||||||||
| Expr2032764 | |||||||||
| Drives_construct | WBCnstr00011857 | ||||||||
| WBCnstr00013580 | |||||||||
| WBCnstr00030825 | |||||||||
| Construct_product | WBCnstr00011857 | ||||||||
| WBCnstr00030825 | |||||||||
| Antibody | WBAntibody00002168 | ||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (102) | |||||||||
| Interaction (49) | |||||||||
| Map_info | Map | I | Position | 2.38213 | Error | 0.001088 | |||
| Positive | Positive_clone | R11A5 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| 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 |
