WormBase Tree Display for Gene: WBGene00001953
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| WBGene00001953 | SMap | S_parent | Sequence | C02B8 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | hlh-8 | Person_evidence | WBPerson346 | |||||
| Sequence_name | C02B8.4 | ||||||||
| Molecular_name | C02B8.4 | ||||||||
| C02B8.4.1 | |||||||||
| CE24777 | |||||||||
| C02B8.4.2 | |||||||||
| Other_name | CELE_C02B8.4 | Accession_evidence | NDB | BX284606 | |||||
| Public_name | hlh-8 | ||||||||
| DB_info | Database | AceView | gene | XI737 | |||||
| WormQTL | gene | WBGene00001953 | |||||||
| WormFlux | gene | WBGene00001953 | |||||||
| OMIM | disease | 101400 | |||||||
| gene | 601622 | ||||||||
| 607556 | |||||||||
| NDB | locus_tag | CELE_C02B8.4 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00001953|UniProtKB=Q11094 | |||||||
| family | PTHR23349 | ||||||||
| NCBI | gene | 181069 | |||||||
| RefSeq | protein | NM_076966.3 | |||||||
| SwissProt | UniProtAcc | Q11094 | |||||||
| UniProt_GCRP | UniProtAcc | Q11094 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:26 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | hlh | ||||||||
| Allele (88) | |||||||||
| Strain | WBStrain00027639 | ||||||||
| WBStrain00027640 | |||||||||
| WBStrain00030584 | |||||||||
| WBStrain00030587 | |||||||||
| WBStrain00030588 | |||||||||
| WBStrain00033322 | |||||||||
| WBStrain00037705 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (19) | |||||||||
| Ortholog (37) | |||||||||
| Paralog | WBGene00000561 | Caenorhabditis elegans | From_analysis | TreeFam | |||||
| WBGene00001954 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00001957 | Caenorhabditis elegans | From_analysis | TreeFam | ||||||
| Panther | |||||||||
| WormBase-Compara | |||||||||
| WBGene00003595 | Caenorhabditis elegans | From_analysis | TreeFam | ||||||
| WBGene00001962 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00001981 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| WBGene00001956 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WormBase-Compara | |||||||||
| Structured_description | Concise_description | The hlh-8 gene encodes a helix-loop-helix protein required for normal muscle development, and hence for normal defecation and egg-laying. | Paper_evidence | WBPaper00003174 | |||||
| WBPaper00004154 | |||||||||
| WBPaper00004482 | |||||||||
| WBPaper00005080 | |||||||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in mesodermal cell fate specification; positive regulation of transcription by RNA polymerase II; and vulval cell fate specification. Predicted to be located in nucleus. Expressed in several structures, including M.dla; M.dra; M.vla; body wall muscle cell from M lineage; and enteric muscle. Used to study Saethre-Chotzen syndrome. Human ortholog(s) of this gene implicated in several diseases, including Barber-Say syndrome; Sweeney-Cox syndrome; and synostosis (multiple). Is an ortholog of human TWIST2 (twist family bHLH transcription factor 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 | Experimental_model | DOID:14768 | Homo sapiens | Paper_evidence | WBPaper00005324 | ||||
| WBPaper00036744 | |||||||||
| Accession_evidence | OMIM | 101400 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 03 Apr 2013 00:00:00 | ||||||||
| Potential_model | DOID:0060549 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20670) | |||||
| DOID:3459 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12428) | ||||||
| DOID:0080538 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12428) | ||||||
| DOID:0060550 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20670) | ||||||
| DOID:14768 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12428) | ||||||
| DOID:12960 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12428) | ||||||
| DOID:2340 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12428) | ||||||
| EFO:MONDO:0018363 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20670) | ||||||
| DOID:3770 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12428) | ||||||
| DOID:1612 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:12428) | ||||||
| Disease_relevance | Twist1 is a well-conserved bHLH type transcriptional regulator protein present across species including humans, involved in the development of the mesoderm; mutations in Twist1 are implicated in the craniofacial disorder Saethre-Chotzen syndrome, characterized by the premature fusion of certain skull bones (craniosynostosis), preventing the skull from growing normally and affecting the shape of the head and face; studies with the C. elegans Twist ortholog indicate that the semi-dominant mutant (n2170) shares the muscle development defective phenotypes with the loss-of-function mutant (nr2061); further, when mutations similar to Saethre-Chotzen syndrome mutations were introduced into elegans Twist, similar muscle defective phenotypes were observed, suggesting that Saethre-Chotzen syndrome may be caused, in some cases, by dominant negative proteins, rather than by haploinsufficiency of the locus. | Homo sapiens | Paper_evidence | WBPaper00005324 | |||||
| Accession_evidence | OMIM | 101400 | |||||||
| 601622 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 12 May 2015 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00001006 | ||||||||
| Models_disease_asserted | WBDOannot00000126 | ||||||||
| WBDOannot00001005 | |||||||||
| Molecular_info | Corresponding_CDS | C02B8.4 | |||||||
| Corresponding_transcript | C02B8.4.1 | ||||||||
| C02B8.4.2 | |||||||||
| Other_sequence | Oden_isotig22148 | ||||||||
| ES413014.1 | |||||||||
| JI213846.1 | |||||||||
| Associated_feature (14) | |||||||||
| Gene_product_binds (7249) | |||||||||
| Transcription_factor | WBTranscriptionFactor000066 | ||||||||
| WBTranscriptionFactor000083 | |||||||||
| Experimental_info | RNAi_result (14) | ||||||||
| Expr_pattern (13) | |||||||||
| Drives_construct (19) | |||||||||
| Construct_product (11) | |||||||||
| Antibody | WBAntibody00000188 | ||||||||
| WBAntibody00001852 | |||||||||
| Microarray_results (19) | |||||||||
| Expression_cluster (88) | |||||||||
| Interaction (121) | |||||||||
| WBProcess | WBbiopr:00000040 | ||||||||
| Map_info | Map | X | Position | -0.530654 | Error | 0.011006 | |||
| Positive | Positive_clone | C02B8 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 4404 | |||||||
| 4750 | |||||||||
| 4876 | |||||||||
| 5663 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (71) | |||||||||
| 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 |
