WormBase Tree Display for Gene: WBGene00021753
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| WBGene00021753 | SMap | S_parent | Sequence | Y50D7A | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | Sequence_name | Y50D7A.3 | |||||||
| Molecular_name | Y50D7A.3a | ||||||||
| Y50D7A.3a.1 | |||||||||
| CE54109 | |||||||||
| Y50D7A.3b | |||||||||
| CE30027 | |||||||||
| Y50D7A.3b.1 | |||||||||
| Other_name | Y50D7A.g | Curator_confirmed | WBPerson1983 | ||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| CELE_Y50D7A.3 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | Y50D7A.3 | ||||||||
| DB_info | Database (14) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:04 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Allele (232) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (12) | |||||||||
| Contained_in_operon | CEOP3020 | ||||||||
| CEOP3851 | |||||||||
| Ortholog (42) | |||||||||
| Paralog (14) | |||||||||
| Structured_description | Concise_description | Y50D7A.3 is orthologous to human Phosphorylase Kinase Gamma-2 (PHKG2) which is the liver and testis isoform of the gamma subunit of phosphorylase kinase; human PHKG2 phosphorylates and activates glycogen phosphorylase, which leads to the breakdown of glycogen (glycogenolysis). | Paper_evidence | WBPaper00027258 | |||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 31 May 2012 00:00:00 | ||||||||
| Automated_description | Predicted to enable ATP binding activity; calmodulin binding activity; and phosphorylase kinase activity. Predicted to be involved in glycogen biosynthetic process and phosphorylation. Predicted to be part of phosphorylase kinase complex. Human ortholog(s) of this gene implicated in glycogen storage disease IXc and liver cirrhosis. Is an ortholog of human PHKG2 (phosphorylase kinase catalytic subunit gamma 2). | 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 | Potential_model | DOID:5082 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8931) | ||||
| DOID:0111043 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8931) | ||||||
| DOID:2747 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:8931) | ||||||
| Disease_relevance | Human PHKG2 (orthologous to elegans Y50D7A.3) is the liver and testis isoform of the phosphorylase kinase gamma subunit that is involved in breakdown of glycogen, via phosphorylation of glycogen phosphorylase; mutations in PHKG2 are associated with Cirrhosis (due to liver phosphorylase kinase deficiency) and Glycogen storage disease. | Homo sapiens | Accession_evidence | OMIM | 172471 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 31 May 2012 00:00:00 | ||||||||
| Molecular_info | Corresponding_CDS | Y50D7A.3a | |||||||
| Y50D7A.3b | |||||||||
| Corresponding_CDS_history | Y50D7A.3:wp91 | ||||||||
| Y50D7A.3a:wp275 | |||||||||
| Corresponding_transcript | Y50D7A.3a.1 | ||||||||
| Y50D7A.3b.1 | |||||||||
| Other_sequence (33) | |||||||||
| Associated_feature | WBsf644909 | ||||||||
| WBsf658546 | |||||||||
| WBsf658547 | |||||||||
| WBsf224352 | |||||||||
| WBsf224353 | |||||||||
| WBsf224354 | |||||||||
| Experimental_info | RNAi_result (23) | ||||||||
| Expr_pattern | Expr1018664 | ||||||||
| Expr1039536 | |||||||||
| Expr1160536 | |||||||||
| Expr2007756 | |||||||||
| Expr2025999 | |||||||||
| Microarray_results (30) | |||||||||
| Expression_cluster (71) | |||||||||
| Interaction | WBInteraction000111697 | ||||||||
| WBInteraction000139184 | |||||||||
| WBInteraction000162265 | |||||||||
| WBInteraction000173709 | |||||||||
| WBInteraction000568374 | |||||||||
| Map_info | Positive | Positive_clone | Y50D7A | Inferred_automatically | From sequence, transcript, pseudogene data | ||||
| Interpolated_map_position | III | -26.9056 | |||||||
| Reference | WBPaper00027258 | ||||||||
| WBPaper00038491 | |||||||||
| WBPaper00055090 | |||||||||
| Method | Gene |
