WormBase Tree Display for Gene: WBGene00006742
expand all nodes | collapse all nodes | view schema
WBGene00006742 | SMap | S_parent | Sequence | CHROMOSOME_X | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
Gene_info (11) | |||||||
Disease_info | Experimental_model | DOID:6364 | Homo sapiens | Paper_evidence | WBPaper00006272 | ||
Accession_evidence | OMIM | 141500 | |||||
Curator_confirmed | WBPerson324 | ||||||
Date_last_updated | 14 Apr 2014 00:00:00 | ||||||
Potential_model | DOID:10024 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1388) | |||
DOID:0080454 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1388) | ||||
DOID:0050956 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1388) | ||||
DOID:0112205 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1392) | ||||
DOID:2377 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1389) | ||||
DOID:0111181 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1388) | ||||
DOID:0050214 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1389) | ||||
DOID:0050990 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1388) | ||||
DOID:4724 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1389) | ||||
DOID:6364 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:1388) | ||||
Disease_relevance | Mutations in the human calcium channel CACNA1A (Calcium channel, voltage-dependent, P/Q type, alpha-1A subunit) are associated with Episodic ataxia (type 2), which affects the nervous system, resulting in migraines, vision and speech defects, and muscle weakness; mutations in CACNA1A also cause Spinocerebellar ataxia (type 6), a progressive movement disorder; voltage dependent calcium channels mediate calcium entry into cells and are involved in several calcium dependent processes; genetic studies in elegans show that unc-2, the ortholog of CACNA1A, negatively modulates a transforming growth factor (TGF)-beta pathway to affect certain phenotypes like movement, and for the normal accumulation of serotonin levels; further, unc-2 dependent inhibition of the TGF-beta pathway regulates the transcriptional expression of trytophan hydroxylase (tph-1) in serotonergic neurons under stress conditions like starvation and raised temperature; a construct expressing human CACNA1A can substitute for unc-2 function in elegans. | Homo sapiens | Paper_evidence | WBPaper00006272 | |||
Accession_evidence | OMIM | 601011 | |||||
Curator_confirmed | WBPerson324 | ||||||
Date_last_updated | 14 Apr 2014 00:00:00 | ||||||
Models_disease_in_annotation | WBDOannot00000025 | ||||||
Molecular_info | Corresponding_CDS (15) | ||||||
Corresponding_CDS_history | T02C5.5b:wp102 | ||||||
T02C5.5d:wp271 | |||||||
T02C5.5e:wp272 | |||||||
Corresponding_transcript (15) | |||||||
Other_sequence (50) | |||||||
Associated_feature (42) | |||||||
Experimental_info | RNAi_result (18) | ||||||
Expr_pattern (13) | |||||||
Drives_construct | WBCnstr00003100 | ||||||
WBCnstr00003101 | |||||||
WBCnstr00004845 | |||||||
WBCnstr00004847 | |||||||
WBCnstr00038221 | |||||||
Construct_product | WBCnstr00005852 | ||||||
WBCnstr00005853 | |||||||
WBCnstr00005854 | |||||||
WBCnstr00020432 | |||||||
WBCnstr00022471 | |||||||
WBCnstr00023025 | |||||||
WBCnstr00023027 | |||||||
Microarray_results (47) | |||||||
Expression_cluster (201) | |||||||
Interaction (139) | |||||||
Anatomy_function (3) | |||||||
Map_info | Map | X | Position | -13.7946 | Error | 0.063386 | |
Well_ordered | |||||||
Positive | Positive_clone | T02C5 | Inferred_automatically | From sequence, transcript, pseudogene data | |||
Mapping_data | 2_point | 145 | |||||
153 | |||||||
154 | |||||||
155 | |||||||
156 | |||||||
157 | |||||||
3151 | |||||||
4456 | |||||||
4457 | |||||||
7099 | |||||||
Multi_point (28) | |||||||
Pos_neg_data (23) | |||||||
Landmark_gene | |||||||
Reference (201) | |||||||
Method | Gene |