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This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, and the reference genome encodes a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2019]
PKD1L2 (Polycystin 1 Like 2 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with PKD1L2 include Polycystic Kidney Disease and Kidney Disease. Among its related pathways are Actin Dynamics Signaling Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and ion channel activity. An important paralog of this gene is PKD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005262 | calcium channel activity | IBA | 21873635 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0030246 | carbohydrate binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Actin Dynamics Signaling Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0050982 | detection of mechanical stimulus | IBA | 21873635 |
GO:0070588 | calcium ion transmembrane transport | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b | ^ | 31a | · | 31b | ^ | 32 | ^ | 33a | · | 33b | ^ | 34a | · | 34b | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41a | · | 41b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PKD1L2 30 |
|
||
Dog (Canis familiaris) |
Mammalia | PKD1L2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PKD1L2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pkd1l2 30 17 |
|
||
Pkd1l3 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | LOC691069 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PKD1L2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PKD1L2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC100858437 30 |
|
||
PKD1L2 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | PKD1L2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pkd1l2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32680 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | im:7138475 30 |
|
||
PKD1L2 (1 of 2) 31 |
|
OneToMany | |||
PKD1L2 (2 of 2) 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6839 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | lov-1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1597273166 | Uncertain Significance: Marfanoid habitus and intellectual disability | 81,174,726(-) |
TCTGACGTCTATGCTC
NM_001076780.2(PKD1L2):c.2747_2771del (p.Gly916fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT | |
rs796052190 | Likely Benign: Long QT syndrome | 81,202,554(-) |
G/T NM_001076780.2(PKD1L2):c.1089C>A (p.Cys363Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
rs11150370 | - |
p.Pro301Ala |
|||
rs12596941 | - |
p.Ala863Val |
|||
rs12597040 | - |
p.Leu1036Pro |
Disorder | Aliases | PubMed IDs |
---|---|---|
polycystic kidney disease |
|
|
kidney disease |
|
|
macular degeneration, age-related, 10 |
|
|
conduct disorder |
|
|
neuromuscular disease |
|
|