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WormBase Tree Display for Gene: WBGene00001187

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Name Class

WBGene00001187SMapS_parentSequenceCHROMOSOME_IV
IdentityVersion2
NameCGC_nameegl-19Person_evidenceWBPerson268
Sequence_nameC48A7.1
Molecular_nameC48A7.1a
C48A7.1a.1
CE28820
C48A7.1b
CE31165
C48A7.1c
CE49477
C48A7.1b.1
C48A7.1c.1
Other_nameeat-12
pat-5
CELE_C48A7.1Accession_evidenceNDBBX284604
Public_nameegl-19
DB_infoDatabaseAceViewgene4I183
WormQTLgeneWBGene00001187
WormFluxgeneWBGene00001187
OMIMdisease310200
gene114205
114208
300110
NDBlocus_tagCELE_C48A7.1
PanthergeneCAEEL|WormBase=WBGene00001187|UniProtKB=Q8MQA1
familyPTHR45628
NCBIgene177513
RefSeqproteinNM_171379.6
NM_001380322.1
NM_001027908.6
TrEMBLUniProtAccQ8MQA1
W6RY76
G5EG02
UniProt_GCRPUniProtAccQ8MQA1
SpeciesCaenorhabditis elegans
HistoryVersion_change107 Apr 2004 11:29:23WBPerson1971EventImportedInitial conversion from geneace
202 Mar 2018 10:40:21WBPerson4025EventSplit_intoWBGene00303046
Split_intoWBGene00303046
StatusLive
Gene_info (13)
Disease_infoExperimental_modelDOID:11723Homo sapiensPaper_evidenceWBPaper00004950
Accession_evidenceOMIM310200
Curator_confirmedWBPerson324
Date_last_updated22 May 2017 00:00:00
DOID:0060173Homo sapiensPaper_evidenceWBPaper00061194
Curator_confirmedWBPerson324
Date_last_updated23 Mar 2021 00:00:00
Potential_model (11)
Disease_relevanceMutations in human dystrophin are associated with the Duchenne and Becker types of muscular dystrophy, that affect skeletal muscles used for movement, and heart (cardiac) muscle; the genetic model for progressive myopathy in C. elegans is a mutant of the elegans dystrophin ortholog, dys-1, combined with a mutation in hlh-1, the MyoD ortholog, (dys-1(cx18);hlh-1(cc561ts), these animals display time-dependent muscle degeneration; egl-19 is the major voltage-gated calcium channel of C.elegans muscles; egl-19 loss-of-function mutations cause lethality or flaccid paralysis, whereas gain-of-function mutations are myotonic; further, when egl-19 is knocked down by RNA interference in a dystrophin mutant (cx18) the animals display muscle degeneration/defects like disrupted actin filaments, aggregates of actin, or complete loss of the muscle cells; this worm model demonstrates that calcium channel activity is directly correlated with the progression of muscle degeneration induced by dystrophin mutations corroborating the role of calcium in the progression of Duchenne Muscular Dystrophy.Homo sapiensAccession_evidenceOMIM310200
Curator_confirmedWBPerson324
Models_disease_assertedWBDOannot00000289
WBDOannot00000426
WBDOannot00000901
WBDOannot00000902
Molecular_infoCorresponding_CDSC48A7.1a
C48A7.1b
C48A7.1c
Corresponding_CDS_historyC48A7.1d:wp264
Corresponding_transcriptC48A7.1a.1
C48A7.1b.1
C48A7.1c.1
Other_sequence (24)
Associated_feature (21)
Experimental_infoRNAi_resultWBRNAi00024850Inferred_automaticallyRNAi_primary
WBRNAi00090235Inferred_automaticallyRNAi_primary
WBRNAi00089917Inferred_automaticallyRNAi_primary
WBRNAi00064260Inferred_automaticallyRNAi_primary
WBRNAi00113903Inferred_automaticallyRNAi_primary
WBRNAi00090077Inferred_automaticallyRNAi_primary
WBRNAi00008534Inferred_automaticallyRNAi_primary
WBRNAi00042705Inferred_automaticallyRNAi_primary
WBRNAi00002264Inferred_automaticallyRNAi_primary
WBRNAi00089854Inferred_automaticallyRNAi_primary
Expr_pattern (16)
Drives_constructWBCnstr00000001
WBCnstr00002353
WBCnstr00004321
WBCnstr00006012
WBCnstr00006809
WBCnstr00010286
WBCnstr00037042
Construct_productWBCnstr00006719
WBCnstr00006720
WBCnstr00006809
WBCnstr00006817
WBCnstr00006818
WBCnstr00010286
WBCnstr00017063
WBCnstr00022477
WBCnstr00037042
Microarray_results (28)
Expression_cluster (160)
SAGE_tag (22)
InteractionWBInteraction000000678
WBInteraction000000679
WBInteraction000000746
WBInteraction000001466
WBInteraction000002034
WBInteraction000002204
WBInteraction000002267
WBInteraction000003045
WBInteraction000003046
WBInteraction000008638
WBInteraction000009516
WBInteraction000009527
WBInteraction000028376
WBInteraction000028432
WBInteraction000028544
WBInteraction000028667
WBInteraction000028720
WBInteraction000029225
WBInteraction000029367
WBInteraction000032952
WBInteraction000034032
WBInteraction000034545
WBInteraction000035888
WBInteraction000038836
WBInteraction000039739
WBInteraction000040693
WBInteraction000041670
WBInteraction000041918
WBInteraction000043077
WBInteraction000043163
WBInteraction000043803
WBInteraction000043891
WBInteraction000044441
WBInteraction000044883
WBInteraction000045216
WBInteraction000045947
WBInteraction000046841
WBInteraction000048437
WBInteraction000049956
WBInteraction000050497
WBInteraction000052792
WBInteraction000112200
WBInteraction000119657
WBInteraction000119984
WBInteraction000120534
WBInteraction000120535
WBInteraction000120608
WBInteraction000120678
WBInteraction000120795
WBInteraction000120871
WBInteraction000120872
WBInteraction000121029
WBInteraction000121406
WBInteraction000121665
WBInteraction000121778
WBInteraction000121779
WBInteraction000126143
WBInteraction000162201
WBInteraction000162295
WBInteraction000165752
WBInteraction000165753
WBInteraction000165754
WBInteraction000165755
WBInteraction000165756
WBInteraction000165757
WBInteraction000165758
WBInteraction000166349
WBInteraction000166434
WBInteraction000166866
WBInteraction000176040
WBInteraction000188553
WBInteraction000195346
WBInteraction000224439
WBInteraction000226639
WBInteraction000231156
WBInteraction000233826
WBInteraction000237500
WBInteraction000250241
WBInteraction000255971
WBInteraction000255972
WBInteraction000255973
WBInteraction000266975
WBInteraction000266978
WBInteraction000272181
WBInteraction000274453
WBInteraction000275140
WBInteraction000277118
WBInteraction000282021
WBInteraction000286836
WBInteraction000286837
WBInteraction000293125
WBInteraction000296219
WBInteraction000296220
WBInteraction000305074
WBInteraction000305075
WBInteraction000330030
WBInteraction000334623
WBInteraction000357904
WBInteraction000358131
WBInteraction000372154
WBInteraction000375472
WBInteraction000378702
WBInteraction000389681
WBInteraction000401217
WBInteraction000402106
WBInteraction000408766
WBInteraction000414111
WBInteraction000435425
WBInteraction000444602
WBInteraction000445200
WBInteraction000446125
WBInteraction000457251
WBInteraction000464546
WBInteraction000466004
WBInteraction000468569
WBInteraction000469161
WBInteraction000471037
WBInteraction000472343
WBInteraction000473297
WBInteraction000473440
WBInteraction000519344
WBInteraction000541544
WBInteraction000542153
WBInteraction000556459
WBInteraction000560561
WBInteraction000560562
Anatomy_functionWBbtf0072
WBbtf0173
WBbtf0401
WBbtf0402
WBbtf0403
WBbtf0404
WBbtf0405
WBbtf0406
WBbtf0407
WBbtf0408
Map_infoMapIVPosition3.33453Error0.000859
Well_ordered
PositivePositive_cloneB0496
C48A7Author_evidenceLee RYN
Inferred_automaticallyFrom sequence, transcript, pseudogene data
NegativeNegative_cloneB0496Author_evidenceLee RYN
CG10
Mapping_dataMulti_point (18)
Pos_neg_data8296
8149
8150
8151
Reference (204)
Remarkthe cs phenotype of n2368 appears to be recessive.
We believe egl-19=pat-5=eat-12.
Data extracted from Williams & Waterston 1994
MethodGene