Q9NZM6 (PK2L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 100.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Polycystic kidney disease 2-like 2 protein Alternative name(s): Polycystin-2L2 Polycystin-L2 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 624 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May function as a subunit of a cation channel and play a role in fertilization. |
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Tissue specificity | According to Ref.1, expressed only in testis. According to Ref.2, expressed also in brain and kidney. Isoform 2 is found only in transformed lymphoblasts. Isoform 3 is found in all tissues tested. |
| Sequence similarities | Belongs to the polycystin family. |
| Sequence caution | The sequence AAD46478.1 differs from that shown. Reason: Frameshift at position 595. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ion transport Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Transmembrane Transmembrane helix |
| Molecular function | Ion channel |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | detection of mechanical stimulus Inferred from Biological aspect of Ancestor. Source: RefGenome |
| Cellular_component | integral to membrane Traceable author statement Ref.1. Source: UniProtKB |
| Molecular_function | calcium channel activity Inferred from Biological aspect of Ancestor. Source: RefGenome calcium ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] Note: Experimental confirmation may be lacking for some isoforms. | ||||||
| Isoform 1 (identifier: Q9NZM6-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9NZM6-2) Also known as: PKD2L2b; The sequence of this isoform differs from the canonical sequence as follows: 11-44: Missing. 45-45: L → V | ||||||
| Isoform 3 (identifier: Q9NZM6-3) Also known as: PKD2L2a; The sequence of this isoform differs from the canonical sequence as follows: 45-57: LTFGMVNPHMYYL → CYVISIFGHFCAW 58-624: Missing. | ||||||
| Isoform 4 (identifier: Q9NZM6-4) Also known as: PKD2L2c; The sequence of this isoform differs from the canonical sequence as follows: 12-23: ASKHKLHYRKEV → YVISIFGHFCAW 24-624: Missing. | ||||||
| Isoform 5 (identifier: Q9NZM6-5) The sequence of this isoform differs from the canonical sequence as follows: 595-624: ELFLYAVELEKELHYINLKLNQVVRKVSAL → DGTTTKYKMRFSECLTKRI | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q9NZM6-6) The sequence of this isoform differs from the canonical sequence as follows: 383-483: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q9NZM6-7) The sequence of this isoform differs from the canonical sequence as follows: 326-347: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 624 | 624 | Polycystic kidney disease 2-like 2 protein | PRO_0000164361 | |||||
Regions | |||||||||
| Topological domain | 1 – 31 | 31 | Cytoplasmic Potential | ||||||
| Transmembrane | 32 – 52 | 21 | Helical; Potential | ||||||
| Topological domain | 53 – 276 | 224 | Extracellular Potential | ||||||
| Transmembrane | 277 – 297 | 21 | Helical; Potential | ||||||
| Topological domain | 298 – 314 | 17 | Cytoplasmic Potential | ||||||
| Transmembrane | 315 – 335 | 21 | Helical; Potential | ||||||
| Topological domain | 336 – 360 | 25 | Extracellular Potential | ||||||
| Transmembrane | 361 – 381 | 21 | Helical; Potential | ||||||
| Topological domain | 382 – 406 | 25 | Cytoplasmic Potential | ||||||
| Transmembrane | 407 – 427 | 21 | Helical; Potential | ||||||
| Topological domain | 428 – 469 | 42 | Extracellular Potential | ||||||
| Transmembrane | 470 – 490 | 21 | Helical; Potential | ||||||
| Topological domain | 491 – 624 | 134 | Cytoplasmic Potential | ||||||
| Coiled coil | 556 – 576 | 21 | Potential | ||||||
| Motif | 126 – 138 | 13 | Polycystin motif | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 115 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 138 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 11 – 44 | 34 | Missing in isoform 2. | VSP_004732 | |||||
| Alternative sequence | 12 – 23 | 12 | ASKHK…YRKEV → YVISIFGHFCAW in isoform 4. | VSP_004733 | |||||
| Alternative sequence | 24 – 624 | 601 | Missing in isoform 4. | VSP_004734 | |||||
| Alternative sequence | 45 – 57 | 13 | LTFGM…HMYYL → CYVISIFGHFCAW in isoform 3. | VSP_004736 | |||||
| Alternative sequence | 45 | 1 | L → V in isoform 2. | VSP_004735 | |||||
| Alternative sequence | 58 – 624 | 567 | Missing in isoform 3. | VSP_004737 | |||||
| Alternative sequence | 326 – 347 | 22 | Missing in isoform 7. | VSP_045581 | |||||
| Alternative sequence | 383 – 483 | 101 | Missing in isoform 6. | VSP_045582 | |||||
| Alternative sequence | 595 – 624 | 30 | ELFLY…KVSAL → DGTTTKYKMRFSECLTKRI in isoform 5. | VSP_035775 | |||||
| Natural variant | 404 | 1 | V → I. Ref.3 Corresponds to variant rs1880458 [ dbSNP | Ensembl ]. | VAR_047542 | |||||
| Natural variant | 507 | 1 | L → P. Ref.1 Ref.2 Ref.3 Ref.6 Corresponds to variant rs12187140 [ dbSNP | Ensembl ]. | VAR_047543 | |||||
Experimental info | |||||||||
| Sequence conflict | 205 – 206 | 2 | Missing in BAG63344. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)." Veldhuisen B., Spruit L., Dauwerse H.G., Breuning M.H., Peters D.J.M. Eur. J. Hum. Genet. 7:860-872(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), VARIANT PRO-507. Tissue: Testis. |
| [2] | "Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization." Guo L., Schreiber T.H., Weremowicz S., Morton C.C., Lee C., Zhou J. Genomics 64:241-251(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT PRO-507. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7), VARIANTS ILE-404 AND PRO-507. Tissue: Testis. |
| [4] | "The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. Rubin E.M.Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), VARIANT PRO-507. Tissue: Testis. |
| [7] | "Polycystin channels and kidney disease." Stayner C., Zhou J. Trends Pharmacol. Sci. 22:543-546(2001) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF118125 mRNA. Translation: AAD46478.1. Frameshift. AF182034 mRNA. Translation: AAF65622.1. AC106753 Genomic DNA. No translation available. AK301924 mRNA. Translation: BAG63344.1. AC106791 Genomic DNA. No translation available. CH471062 Genomic DNA. Translation: EAW62174.1. BC044581 mRNA. Translation: AAH44581.1. |
| IPI | IPI00021443. IPI00070729. IPI00216678. IPI00216679. IPI00216680. IPI00384675. IPI00910627. |
| RefSeq | NP_001245377.1. NM_001258448.1. NP_001245378.1. NM_001258449.1. NP_055201.2. NM_014386.3. |
| UniGene | Hs.716884. |
3D structure databases | |
| ProteinModelPortal | Q9NZM6. |
| SMR | Q9NZM6. Positions 410-493. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000290431. |
PTM databases | |
| PhosphoSite | Q9NZM6. |
Polymorphism databases | |
| DMDM | 23821937. |
Proteomic databases | |
| PaxDb | Q9NZM6. |
| PRIDE | Q9NZM6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000290431; ENSP00000290431; ENSG00000078795. ENST00000350250; ENSP00000344177; ENSG00000078795. ENST00000414094; ENSP00000388060; ENSG00000078795. ENST00000502810; ENSP00000425513; ENSG00000078795. ENST00000508638; ENSP00000423382; ENSG00000078795. ENST00000508883; ENSP00000424725; ENSG00000078795. |
| GeneID | 27039. |
| KEGG | hsa:27039. |
| UCSC | uc003lbw.1. human. uc003lbx.3. human. uc003lby.3. human. |
Organism-specific databases | |
| CTD | 27039. |
| GeneCards | GC05P137225. |
| H-InvDB | HIX0024797. |
| HGNC | HGNC:9012. PKD2L2. |
| HPA | HPA041903. HPA043634. |
| MIM | 604669. gene. |
| neXtProt | NX_Q9NZM6. |
| PharmGKB | PA33345. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG325704. |
| HOGENOM | HOG000230858. |
| HOVERGEN | HBG014945. |
| InParanoid | Q9NZM6. |
| KO | K04991. |
| OMA | KFMEGPL. |
| PhylomeDB | Q9NZM6. |
Gene expression databases | |
| ArrayExpress | Q9NZM6. |
| Bgee | Q9NZM6. |
| CleanEx | HS_PKD2L2. |
| Genevestigator | Q9NZM6. |
| GermOnline | ENSG00000078795. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR013122. PKD1_2_channel. IPR003915. PKD_2. [Graphical view] |
| Pfam | PF08016. PKD_channel. 1 hit. [Graphical view] |
| PRINTS | PR01433. POLYCYSTIN2. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 27039. |
| NextBio | 49604. |
| SOURCE | Search... |
Entry information
| Entry name | PK2L2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NZM6 Secondary accession number(s): A6NK98 Q9UNJ0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
