WormBase Tree Display for Gene: WBGene00003171
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WBGene00003171 | SMap | S_parent | Sequence | ZK154 | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
Gene_info (11) | |||||||
Disease_info | Experimental_model | DOID:14452 | Homo sapiens | Paper_evidence | WBPaper00002711 | ||
Curator_confirmed | WBPerson324 | ||||||
Date_last_updated | 24 Aug 2018 00:00:00 | ||||||
Potential_model | DOID:0112242 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20778) | |||
DOID:0090136 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20778) | ||||
DOID:0112240 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20771) | ||||
DOID:0060798 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20774) | ||||
DOID:0090041 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:20774) | ||||
Disease_relevance | C. elegans mec-4 and deg-1 genes encode proteins, called degenerins, that are similar to the subunits of the human amiloride-sensitive epithelial sodium-channels; death-inducing substitutions in the gain-of-function mutant deg-1, e1611 and u231, may hyperactivate the channels, resulting in increased or altered ion flow and/osmotic imbalance and consequent neuron death; similarities between the degenerin-induced deaths and the early pathology of of neurons in human dominant myotonias, excitotoxicity, and epilepsy suggest similar mechanisms; studies with the elegans mutations show that the abnormalities infolding of the plasma membrane whorls, cytoplasmic vacuoles, cell swelling, chromatin aggregates and nuclear invaginations; mitochondria and golgi are not dramatically affected until the final stages of cell death when organelles, and sometimes the cells lyse; pathology of degeneration is dependent on abnormal degenerin gene dosage. | Homo sapiens | Paper_evidence | WBPaper00002711 | |||
Curator_confirmed | WBPerson324 | ||||||
Date_last_updated | 13 Nov 2014 00:00:00 | ||||||
Models_disease_asserted | WBDOannot00000609 | ||||||
Molecular_info (4) | |||||||
Experimental_info | RNAi_result (18) | ||||||
Expr_pattern | Expr266 | ||||||
Expr1504 | |||||||
Expr1524 | |||||||
Expr1577 | |||||||
Expr11808 | |||||||
Expr1015364 | |||||||
Expr1031504 | |||||||
Expr1162675 | |||||||
Expr2013501 | |||||||
Expr2031735 | |||||||
Drives_construct (154) | |||||||
Construct_product | WBCnstr00000678 | ||||||
WBCnstr00001034 | |||||||
WBCnstr00015918 | |||||||
WBCnstr00036199 | |||||||
Antibody | WBAntibody00000087 | ||||||
WBAntibody00001541 | |||||||
WBAntibody00001774 | |||||||
WBAntibody00001775 | |||||||
Microarray_results (18) | |||||||
Expression_cluster (243) | |||||||
Interaction (229) | |||||||
WBProcess | WBbiopr:00000002 | ||||||
Map_info | Map | X | Position | -1.27615 | Error | 0.00769 | |
Well_ordered | |||||||
Positive | Inside_rearr | raDf7 | |||||
Positive_clone | NW#B4 | ||||||
ZK154 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
Mapping_data | 2_point | 167 | |||||
672 | |||||||
1828 | |||||||
Multi_point (15) | |||||||
Pos_neg_data | 7293 | ||||||
7294 | |||||||
7295 | |||||||
529 | |||||||
3176 | |||||||
9433 | |||||||
Reference (243) | |||||||
Method | Gene |