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| # | Reference Title | Reference Citation |
| 1. | A truncated polycystin-2 protein causes polycystic kidney disease and retinal degeneration in transgenic rats. | Gallagher AR, etal., J Am Soc Nephrol. 2006 Oct;17(10):2719-30. doi: 10.1681/ASN.2005090979. Epub 2006 Aug 30. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). | Hoefele J, etal., Nephrol Dial Transplant. 2011 Jul;26(7):2181-8. Epub 2010 Nov 29. |
| 4. | Alpha-actinin associates with polycystin-2 and regulates its channel activity. | Li Q, etal., Hum Mol Genet. 2005 Jun 15;14(12):1587-603. Epub 2005 Apr 20. |
| 5. | Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling. | Masyuk AI, etal., Gastroenterology. 2006 Sep;131(3):911-20. |
| 6. | Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. | Obermuller N, etal., J Am Soc Nephrol. 2002 Jul;13(7):1855-64. |
| 7. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. | Robinson C, etal., BMC Nephrol. 2012 Aug 3;13:79. doi: 10.1186/1471-2369-13-79. |
| 11. | Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. | Rossetti S, etal., Lancet. 2003 Jun 28;361(9376):2196-201. |
| 12. | Polycystin-2 expression is increased following experimental ischaemic renal injury. | Zhao Y, etal., Nephrol Dial Transplant. 2002 Dec;17(12):2138-44. |
| PMID:9192675 | PMID:10097141 | PMID:10615132 | PMID:10760273 | PMID:10770959 | PMID:11252306 | PMID:11854751 | PMID:11891195 | PMID:11901144 | PMID:12007403 | PMID:12062060 | PMID:12062067 |
| PMID:12514735 | PMID:12640140 | PMID:12874107 | PMID:15001556 | PMID:15123714 | PMID:15337773 | PMID:15692563 | PMID:15790956 | PMID:15858826 | PMID:16025301 | PMID:16192288 | PMID:16223735 |
| PMID:16301212 | PMID:16311606 | PMID:16316413 | PMID:17404231 | PMID:18178578 | PMID:18235088 | PMID:18552856 | PMID:18721488 | PMID:19056867 | PMID:19158352 | PMID:19265036 | PMID:19556541 |
| PMID:19801576 | PMID:19806208 | PMID:19897428 | PMID:20168298 | PMID:20181743 | PMID:20408813 | PMID:20862291 | PMID:21044049 | PMID:21307093 | PMID:21622852 | PMID:21685914 | PMID:21719175 |
| PMID:22031837 | PMID:23398808 | PMID:23755094 | PMID:24990821 | PMID:25114176 | PMID:25351462 | PMID:25367197 | PMID:25405894 | PMID:26269590 | PMID:27071085 | PMID:27214281 | PMID:27760766 |
| PMID:27991905 | PMID:28092368 | PMID:28154160 | PMID:29899465 | PMID:30093605 | PMID:35355482 | PMID:36155344 |
| Pkd2 (Rattus norvegicus - Norway rat) |
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| PKD2 (Homo sapiens - human) |
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| Pkd2 (Mus musculus - house mouse) |
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| Pkd2 (Chinchilla lanigera - long-tailed chinchilla) |
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| PKD2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PKD2 (Canis lupus familiaris - dog) |
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| Pkd2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PKD2 (Sus scrofa - pig) |
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| PKD2 (Chlorocebus sabaeus - green monkey) |
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| Pkd2 (Heterocephalus glaber - naked mole-rat) |
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| Pkd2 (Rattus rattus - black rat) |
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.
Variants in Pkd2
1457 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| BI294486 |
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| RH141583 |
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| RH142028 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 163 | 91 | 90 | 59 | 80 | 59 | 6 | 344 | 180 | 11 | 142 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001191934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| GenBank Nucleotide | AC136829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH474022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000002916 ⟹ ENSRNOP00000002916 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001191934 ⟹ NP_001178863 | ||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| Protein RefSeqs | NP_001178863 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | EDL99486 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000002916.5 | ||
| ENSRNOP00000058376.4 | |||
| ENSRNOP00000087239.1 | |||
| ENSRNOP00000092748.1 | |||
| ENSRNOP00000096038.1 | |||
| ENSRNOP00000100907.1 | |||
| ENSRNOP00000101775.1 | |||
| ENSRNOP00000104429.1 | |||
| ENSRNOP00000110100.1 | |||
| ENSRNOP00000112758.1 |
| RefSeq Acc Id: | NP_001178863 ⟸ NM_001191934 |
| - UniProtKB: | D4A5F1 (UniProtKB/TrEMBL), A6K5R6 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000002916 ⟸ ENSRNOT00000002916 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D4A5F1-F1-model_v2 | AlphaFold | D4A5F1 | 1-966 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13699170 | ||||||||
| Promoter ID: | EPDNEW_R9695 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Pkd2_1 | ||||||||
| Description: | polycystin 2, transient receptor potential cation channel | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1559992 | AgrOrtholog |
| BioCyc Gene | G2FUF-16514 | BioCyc |
| Ensembl Genes | ENSRNOG00000002146 | Ensembl |
| ENSRNOG00000042340 | Ensembl, UniProtKB/TrEMBL | |
| Ensembl Transcript | ENSRNOT00000002916.7 | UniProtKB/TrEMBL |
| ENSRNOT00000061664.6 | UniProtKB/TrEMBL | |
| ENSRNOT00000099158.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000102766.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000111166.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000132568.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000137184.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000138533.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000153012.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000162767.1 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 1.10.287.70 | UniProtKB/TrEMBL |
| 1.20.120.350 | UniProtKB/TrEMBL | |
| 1.20.5.340 | UniProtKB/TrEMBL | |
| EF-hand | UniProtKB/TrEMBL | |
| InterPro | EF-hand-like_dom | UniProtKB/TrEMBL |
| EF_hand_Ca-bd | UniProtKB/TrEMBL | |
| PKD1_2_channel | UniProtKB/TrEMBL | |
| PKD_2 | UniProtKB/TrEMBL | |
| Polycystin | UniProtKB/TrEMBL | |
| Polycystin_dom | UniProtKB/TrEMBL | |
| Tho2 | UniProtKB/TrEMBL | |
| THO_THOC2_C | UniProtKB/TrEMBL | |
| THO_THOC2_N | UniProtKB/TrEMBL | |
| THOC2_N | UniProtKB/TrEMBL | |
| Volt_channel_dom_sf | UniProtKB/TrEMBL | |
| KEGG Report | rno:498328 | UniProtKB/TrEMBL |
| NCBI Gene | 498328 | ENTREZGENE |
| PANTHER | POLYCYSTIN FAMILY MEMBER | UniProtKB/TrEMBL |
| POLYCYSTIN-2 | UniProtKB/TrEMBL | |
| THO COMPLEX SUBUNIT 2 | UniProtKB/TrEMBL | |
| THO2 PROTEIN | UniProtKB/TrEMBL | |
| Pfam | Fer4_24 | UniProtKB/TrEMBL |
| PKD_channel | UniProtKB/TrEMBL | |
| Polycystin_dom | UniProtKB/TrEMBL | |
| Tho2 | UniProtKB/TrEMBL | |
| Thoc2 | UniProtKB/TrEMBL | |
| THOC2_N | UniProtKB/TrEMBL | |
| PhenoGen | Pkd2 | PhenoGen |
| PRINTS | POLYCYSTIN2 | UniProtKB/TrEMBL |
| PROSITE | EF_HAND_2 | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000002146 | RatGTEx |
| ENSRNOG00000042340 | RatGTEx | |
| Superfamily-SCOP | SSF47473 | UniProtKB/TrEMBL |
| Voltage-gated potassium channels | UniProtKB/TrEMBL | |
| UniProt | A6K5R6 | ENTREZGENE, UniProtKB/TrEMBL |
| D4A5F1 | ENTREZGENE | |
| F1LZ00_RAT | UniProtKB/TrEMBL | |
| UniProt Secondary | D4A5F1 | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-03 | Pkd2 | polycystin 2, transient receptor potential cation channel | Pkd2 | polycystic kidney disease 2 (autosomal dominant) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-11-21 | Pkd2 | polycystic kidney disease 2 (autosomal dominant) | Pkd2 | polycystic kidney disease 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-11-20 | Pkd2 | polycystic kidney disease 2 | Pkd2 | polycystic kidney disease 2 homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-12-15 | Pkd2 | polycystic kidney disease 2 homolog (human) | Pkd2 | polycystic kidney disease 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-04-30 | Pkd2 | polycystic kidney disease 2 | Pkd2_predicted | polycystic kidney disease 2 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2006-08-30 | Pkd2_predicted | polycystic kidney disease 2 (predicted) | RGD1559992_predicted | similar to polycystic kidney disease 2 (predicted) | Symbol and Name updated to reflect Human and Mouse nomenclature | 1299863 | APPROVED |
| 2006-03-07 | RGD1559992_predicted | similar to polycystic kidney disease 2 (predicted) | LOC498328 | similar to polycystic kidney disease 2 | Symbol and Name status set to approved | 1299863 | APPROVED |
| 2006-02-09 | LOC498328 | similar to polycystic kidney disease 2 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |