| 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 (2) |
| | | | | 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 | WBPaper00024375:Up_vhl-1_vs_hif-1_vhl-1 |
| | | WBPaper00024505:pharyngeal_enriched |
| | | WBPaper00033070:Elbe_upregulated |
| | | WBPaper00038438:S.marcescens_24hr_downregulated_TilingArray |
| | | WBPaper00040209:B.thuringiensis_upregulated_MY18 |
| | | WBPaper00040209:B.thuringiensis_upregulated_N2 |
| | | WBPaper00041222:hlh-1(cc561)_upregulated |
| | | WBPaper00041222:unc-120(st364)_downregulated |
| | | WBPaper00044260:1-methylnicotinamide_downregulated |
| | | WBPaper00044316:CH3HgCl_7.5uM_downregulated |
| | | WBPaper00044426:rotenone_24h_upregulated |
| | | WBPaper00044736:flat_dev_expression |
| | | WBPaper00046121:mesoderm_unique |
| | | WBPaper00048988:neuron_expressed |
| | | WBPaper00049377:MWCNT_upregulated |
| | | WBPaper00049626:UNC-75_target |
| | | WBPaper00050488:adult_vs_dauer_regulated_N2_20C |
| | | WBPaper00050859:upregulated_P-granule(-)GFP(+)_vs_control_day2-adult |
| | | WBPaper00050990:body-muscle_enriched |
| | | WBPaper00050990:body-muscle_expressed |
| | | WBPaper00053295:lin-22(ot269)_downregulated |
| | | WBPaper00055226:ADR-2_target_adr-1(tm668) |
| | | WBPaper00055354:Metformin_upregulated |
| | | WBPaper00055354:Rapamycin-Psora-Allantoin_upregulated |
| | | WBPaper00055354:Rapamycin-Rifampicin-Allantoin_upregulated |
| | | WBPaper00055354:Rapamycin-Rifampicin-Psora_upregulated |
| | | WBPaper00055354:Rapamycin-Rifampicin_upregulated |
| | | WBPaper00055354:Rapamycin_downregulated |
| | | WBPaper00055354:Rifampicin-Psora_upregulated |
| | | WBPaper00055354:Rifampicin_upregulated |
| | | WBPaper00055648:vulva-uterus_expressed |
| | | WBPaper00055827:pfd-6(gk493446)_downregulated |
| | | WBPaper00056169:rrf-3(pk1426)_upregulated_embryo |
| | | WBPaper00056290:hsp-6(mg585)_upregulated |
| | | WBPaper00056471:aak-1(tm1944);aak-2(ok524)_upregulated |
| | | WBPaper00056809:smn-1(ok355)_downregulated |
| | | WBPaper00056826:hmc_biased |
| | | WBPaper00057068:ints-4(RNAi)_downregulated_Cadmium |
| | | WBPaper00058598:sin-3(tm1276)_downregulated |
| | | WBPaper00059664:srbc-48(ac23)_upregulated |
| | | WBPaper00060014:set-2(tm1630)_downregulated |
| | | WBPaper00060358:B.thuringiensis_non-pathogen_regulated_elt-2(RNAi) |
| | | WBPaper00060358:B.thuringiensis_pathogen_regulated_elt-2(RNAi) |
| | | WBPaper00060811:L1_vs_adult_downregulated_neural |
| | | WBPaper00060909:atfs-1(cmh15)_downregulated |
| | | WBPaper00061203:sin-3(tm1276)_upregulated |
| | | WBPaper00061203:spr-1(ok2144)_upregulated |
| | | WBPaper00061340:hmc |
| | | WBPaper00061340:hmc_and_homolog |
| | | WBPaper00061340:hmc_homolog |
| | | WBPaper00061340:Intestinal_and_rectal_muscle |
| | | WBPaper00061340:mu_int_mu_anal |
| | | WBPaper00061340:mu_sph |
| | | WBPaper00061340:M_cell |
| | | WBPaper00061439:unc-30(ok613)_upregulated |
| | | WBPaper00061527:syd-1_2945-unc-41_2170 |
| | | WBPaper00062159:hda-2(ok1479)_upregulated |
| | | WBPaper00062325:muscle_enriched_coding-RNA |
| | | WBPaper00062585:hlh-26(ok1453)_upregulated_E.faecium |
| | | WBPaper00064130:Beta-Amyloid_24h_downregulated_mRNA |
| | | WBPaper00064306:Agaro-oligosaccharides_upregulated |
| | | WBPaper00065096:Day10_vs_Day1_downregulated |
| | | WBPaper00065841:1_2 |
| | | WBPaper00065841:7_0 |
| | | WBPaper00065841:7_1 |
| | | WBPaper00065841:7_2 |
| | | WBPaper00065841:7_3 |
| | | WBPaper00065841:7_4 |
| | | WBPaper00065841:38_0 |
| | | WBPaper00065841:38_1 |
| | | WBPaper00065841:38_2 |
| | | WBPaper00065841:38_3 |
| | | WBPaper00065841:55_0 |
| | | WBPaper00065841:102_0 |
| | | WBPaper00065841:110_0 |
| | | WBPaper00065841:110_1 |
| | | WBPaper00065841:143_0 |
| | | WBPaper00065993:glp-1(e2141)_upregulated |
| | | WBPaper00026929:Resveratrol_regulated_daf-16 |
| | | WBPaper00026929:sir-2.1_overexpression_regulated |
| | | WBPaper00031003:hlh_1_enriched |
| | | WBPaper00031252:AIN-1_IP_enriched |
| | | WBPaper00036123:Atrazine_regulated |
| | | WBPaper00036286:Pattern_G |
| | | WBPaper00037113:Chlorpyrifos_Diazinon_16C_regulated |
| | | WBPaper00046548:dafachronic-acid_upregulated |
| | | WBPaper00048989:eat-2(ad465)_rapamycin_downregulated |
| | | WBPaper00048989:N2_rapamycin_upregulated |
| | 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 |
