WormBase Tree Display for Gene: WBGene00003562
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| WBGene00003562 | Evidence | CGC_data_submission | |||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | F09G8 | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | ncr-2 | Person_evidence | WBPerson655 | |||||
| Sequence_name | F09G8.4 | ||||||||
| Molecular_name | F09G8.4 | ||||||||
| F09G8.4.1 | |||||||||
| CE24891 | |||||||||
| Other_name | npc-2 | CGC_data_submission | |||||||
| CELE_F09G8.4 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | ncr-2 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:32 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | ncr | ||||||||
| Allele (83) | |||||||||
| Strain | WBStrain00022844 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (14) | |||||||||
| Ortholog (55) | |||||||||
| Paralog (30) | |||||||||
| Structured_description | Concise_description | ncr-2 encodes a homolog of human NPC1, which when mutated leads to Niemann-Pick disease, type C (OMIM:257220). | Paper_evidence | WBPaper00004637 | |||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Predicted to enable cholesterol binding activity. Involved in cholesterol homeostasis; cholesterol transport; and nematode larval development. Predicted to be located in plasma membrane. Expressed in XXXL; XXXR; gonadal sheath cell; spermatheca; and ventral nerve cord. Used to study Niemann-Pick disease. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Is an ortholog of human NPC1 (NPC intracellular cholesterol transporter 1). | 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:14504 | Homo sapiens | Paper_evidence | WBPaper00004161 | ||||
| Accession_evidence | OMIM | 257220 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 13 Feb 2018 00:00:00 | ||||||||
| Potential_model | DOID:0070113 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7897) | |||||
| Disease_relevance | Mutations in human NPC1 are implicated in Niemann-Pick type C (NP-C) disease, a fatal autosomal recessive neurodegenerative disorder; | Homo sapiens | Accession_evidence | OMIM | 607623 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Models_disease_asserted | WBDOannot00000479 | ||||||||
| WBDOannot00000480 | |||||||||
| WBDOannot00000483 | |||||||||
| WBDOannot00000485 | |||||||||
| WBDOannot00000486 | |||||||||
| Molecular_info | Corresponding_CDS | F09G8.4 | |||||||
| Corresponding_transcript | F09G8.4.1 | ||||||||
| Associated_feature | WBsf993279 | ||||||||
| WBsf225381 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00005190 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00044187 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00013018 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00044186 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00084741 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr3223 | ||||||||
| Expr12628 | |||||||||
| Expr1021823 | |||||||||
| Expr1148145 | |||||||||
| Expr2013909 | |||||||||
| Expr2032149 | |||||||||
| Drives_construct | WBCnstr00011234 | ||||||||
| WBCnstr00022311 | |||||||||
| WBCnstr00036042 | |||||||||
| Construct_product | WBCnstr00036042 | ||||||||
| Microarray_results (19) | |||||||||
| Expression_cluster (133) | |||||||||
| SAGE_tag (14) | |||||||||
| Interaction (14) | |||||||||
| Map_info | Map | III | Position | -0.352504 | Error | 0.000214 | |||
| Positive | Positive_clone | F09G8 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference (30) | |||||||||
| 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 |
