PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel) - Rat Genome Database

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Gene: PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel) Homo sapiens
Analyze
Symbol: PKD2L1
Name: polycystin 2 like 1, transient receptor potential cation channel
RGD ID: 1314779
HGNC Page HGNC
Description: Exhibits calcium ion binding activity; cation channel activity; and muscle alpha-actinin binding activity. Is predicted to contribute to cation transmembrane transporter activity and sour taste receptor activity. Involved in inorganic cation transmembrane transport; protein homotetramerization; and sensory perception of sour taste. Localizes to several cellular components, including calcium channel complex; non-motile cilium; and plasma membrane. Predicted to colocalize with cell surface.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PCL; PKD2L; PKDL; polycystic kidney disease (polycystin)-like; polycystic kidney disease 2-like 1 protein; polycystin-2 homolog; polycystin-2L1; polycystin-L; polycystin-L1; transient receptor potential cation channel, subfamily P, member 3; TRPP3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10100,288,149 - 100,330,264 (-)EnsemblGRCh38hg38GRCh38
GRCh3810100,288,145 - 100,347,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710102,047,906 - 102,089,985 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,037,893 - 102,080,233 (-)NCBINCBI36hg18NCBI36
Build 3410102,037,892 - 102,080,233NCBI
Celera1095,785,781 - 95,828,122 (-)NCBI
Cytogenetic Map10q24.31NCBI
HuRef1095,676,807 - 95,719,121 (-)NCBIHuRef
CHM1_110102,332,503 - 102,374,685 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9748274   PMID:9878261   PMID:10097141   PMID:10517637   PMID:10602361   PMID:10602992   PMID:11698076   PMID:11805156   PMID:11959145   PMID:12477932   PMID:12525172   PMID:12809519  
PMID:15489334   PMID:16385451   PMID:16537653   PMID:17944866   PMID:19812697   PMID:20406802   PMID:20408813   PMID:20538909   PMID:21873635   PMID:21886157   PMID:22174419   PMID:22193359  
PMID:22359512   PMID:22794107   PMID:23251661   PMID:23362303   PMID:24336289   PMID:24625756   PMID:24816252   PMID:25820328   PMID:25910212   PMID:27754867   PMID:28852171   PMID:29230552  
PMID:29567962   PMID:29899465   PMID:30004384   PMID:31315976   PMID:33268808  


Genomics

Comparative Map Data
PKD2L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10100,288,149 - 100,330,264 (-)EnsemblGRCh38hg38GRCh38
GRCh3810100,288,145 - 100,347,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710102,047,906 - 102,089,985 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,037,893 - 102,080,233 (-)NCBINCBI36hg18NCBI36
Build 3410102,037,892 - 102,080,233NCBI
Celera1095,785,781 - 95,828,122 (-)NCBI
Cytogenetic Map10q24.31NCBI
HuRef1095,676,807 - 95,719,121 (-)NCBIHuRef
CHM1_110102,332,503 - 102,374,685 (-)NCBICHM1_1
Pkd2l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391944,136,076 - 44,235,355 (-)NCBIGRCm39mm39
GRCm39 Ensembl1944,136,076 - 44,180,881 (-)Ensembl
GRCm381944,147,637 - 44,248,328 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1944,147,637 - 44,192,442 (-)EnsemblGRCm38mm10GRCm38
MGSCv371944,222,127 - 44,266,932 (-)NCBIGRCm37mm9NCBIm37
MGSCv361944,200,948 - 44,245,719 (-)NCBImm8
Celera1944,933,088 - 44,971,513 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1936.91NCBI
Pkd2l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21243,032,853 - 243,070,031 (-)NCBI
Rnor_6.0 Ensembl1263,922,201 - 263,959,318 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01263,922,201 - 263,959,318 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01271,367,373 - 271,404,490 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41249,047,374 - 249,084,997 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11249,083,071 - 249,342,077 (+)NCBI
Celera1238,850,066 - 238,887,164 (-)NCBICelera
Cytogenetic Map1q54NCBI
Pkd2l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555076,146,825 - 6,166,976 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555076,145,981 - 6,167,152 (-)NCBIChiLan1.0ChiLan1.0
PKD2L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110100,370,083 - 100,412,366 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10100,370,083 - 100,412,366 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01096,889,228 - 96,932,177 (-)NCBIMhudiblu_PPA_v0panPan3
PKD2L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12813,045,749 - 13,076,072 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2813,045,829 - 13,076,485 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2813,228,826 - 13,259,097 (-)NCBI
ROS_Cfam_1.02813,514,442 - 13,544,711 (-)NCBI
UMICH_Zoey_3.12813,061,160 - 13,091,425 (-)NCBI
UNSW_CanFamBas_1.02813,099,244 - 13,129,512 (-)NCBI
UU_Cfam_GSD_1.02813,233,508 - 13,263,795 (-)NCBI
Pkd2l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721333,959,016 - 33,960,778 (+)NCBI
SpeTri2.0NW_004944487205 - 1,593 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKD2L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14111,399,413 - 111,434,642 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114111,398,704 - 111,434,584 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214120,901,637 - 120,937,562 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PKD2L1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1993,319,408 - 93,363,389 (-)NCBI
Pkd2l1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473712,097,134 - 12,137,574 (-)NCBI

Position Markers
D10S603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710102,057,399 - 102,057,644UniSTSGRCh37
GRCh3710102,057,432 - 102,057,581UniSTSGRCh37
Build 3610102,047,422 - 102,047,571RGDNCBI36
Celera1095,795,309 - 95,795,458RGD
Celera1095,795,276 - 95,795,521UniSTS
Cytogenetic Map10q24UniSTS
HuRef1095,686,337 - 95,686,496UniSTS
Marshfield Genetic Map10123.7UniSTS
Marshfield Genetic Map10123.7RGD
Genethon Genetic Map10131.0UniSTS
TNG Radiation Hybrid Map1048574.0UniSTS
deCODE Assembly Map10120.09UniSTS
Stanford-G3 RH Map104604.0UniSTS
GeneMap99-GB4 RH Map10469.37UniSTS
Whitehead-YAC Contig Map10 UniSTS
GeneMap99-G3 RH Map104840.0UniSTS
D10S603  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q24UniSTS
TNG Radiation Hybrid Map1048574.0UniSTS
Stanford-G3 RH Map104604.0UniSTS
GeneMap99-G3 RH Map104840.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1574
Count of miRNA genes:736
Interacting mature miRNAs:828
Transcripts:ENST00000318222, ENST00000338519, ENST00000353274, ENST00000465680, ENST00000528248, ENST00000532547
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 2 1 1 6 1 1 4 3 7 17 1
Low 97 120 169 155 410 151 116 8 683 80 531 541 7 1 92 31
Below cutoff 1805 2149 1277 436 1092 297 3253 1389 2764 252 717 711 141 1060 2081 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001253837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF053316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF073481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF092170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF094827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ084244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318222   ⟹   ENSP00000325296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10100,288,149 - 100,330,228 (-)Ensembl
RefSeq Acc Id: ENST00000465680   ⟹   ENSP00000434019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10100,288,160 - 100,329,972 (-)Ensembl
RefSeq Acc Id: ENST00000528248   ⟹   ENSP00000436514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10100,288,396 - 100,329,940 (-)Ensembl
RefSeq Acc Id: ENST00000532547   ⟹   ENSP00000434224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10100,299,635 - 100,330,264 (-)Ensembl
RefSeq Acc Id: NM_001253837   ⟹   NP_001240766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,288,149 - 100,330,228 (-)NCBI
GRCh3710102,047,903 - 102,090,243 (-)NCBI
HuRef1095,676,807 - 95,719,121 (-)NCBI
CHM1_110102,332,503 - 102,374,685 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016112   ⟹   NP_057196
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,288,149 - 100,330,228 (-)NCBI
GRCh3710102,047,903 - 102,090,243 (-)ENTREZGENE
Build 3610102,037,893 - 102,080,233 (-)NCBI Archive
HuRef1095,676,807 - 95,719,121 (-)ENTREZGENE
CHM1_110102,332,503 - 102,374,685 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540323   ⟹   XP_011538625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,288,145 - 100,347,030 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540325   ⟹   XP_011538627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,288,145 - 100,347,030 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016875   ⟹   XP_016872364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,288,145 - 100,347,030 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016876   ⟹   XP_016872365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,288,145 - 100,339,428 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057196   ⟸   NM_016112
- Peptide Label: isoform 1
- UniProtKB: Q9P0L9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001240766   ⟸   NM_001253837
- Peptide Label: isoform 2
- UniProtKB: Q9P0L9 (UniProtKB/Swiss-Prot),   Q1L4F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538625   ⟸   XM_011540323
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011538627   ⟸   XM_011540325
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016872364   ⟸   XM_017016875
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016872365   ⟸   XM_017016876
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000434019   ⟸   ENST00000465680
RefSeq Acc Id: ENSP00000434224   ⟸   ENST00000532547
RefSeq Acc Id: ENSP00000436514   ⟸   ENST00000528248
RefSeq Acc Id: ENSP00000325296   ⟸   ENST00000318222
Protein Domains
EF-hand   PKD_channel

Promoters
RGD ID:7218415
Promoter ID:EPDNEW_H14952
Type:initiation region
Name:PKD2L1_2
Description:polycystin 2 like 1, transient receptor potential cation channel
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14953  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,329,921 - 100,329,981EPDNEW
RGD ID:7218413
Promoter ID:EPDNEW_H14953
Type:initiation region
Name:PKD2L1_1
Description:polycystin 2 like 1, transient receptor potential cation channel
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14952  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810100,330,528 - 100,330,588EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3 copy number gain See cases [RCV000051647] Chr10:99333940..100475567 [GRCh38]
Chr10:101093697..102235324 [GRCh37]
Chr10:101083687..102225314 [NCBI36]
Chr10:10q24.2-24.31
uncertain significance
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_016112.2(PKD2L1):c.1483G>A (p.Gly495Ser) single nucleotide variant Malignant melanoma [RCV000068769] Chr10:100294997 [GRCh38]
Chr10:102054754 [GRCh37]
Chr10:102044744 [NCBI36]
Chr10:10q24.31
not provided
NM_016112.3(PKD2L1):c.70G>A (p.Ala24Thr) single nucleotide variant Malignant tumor of prostate [RCV000149235] Chr10:100330034 [GRCh38]
Chr10:102089791 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3 copy number gain See cases [RCV000135650] Chr10:99386632..100648221 [GRCh38]
Chr10:101146389..102407978 [GRCh37]
Chr10:101136379..102397968 [NCBI36]
Chr10:10q24.2-24.31
uncertain significance
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss PARP Inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_016112.3(PKD2L1):c.349C>T (p.Leu117=) single nucleotide variant not provided [RCV000959886] Chr10:100329211 [GRCh38]
Chr10:102088968 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.1665G>T (p.Met555Ile) single nucleotide variant not provided [RCV000902539] Chr10:100293374 [GRCh38]
Chr10:102053131 [GRCh37]
Chr10:10q24.31
likely benign
NM_016112.3(PKD2L1):c.226G>T (p.Gly76Cys) single nucleotide variant not provided [RCV000948851] Chr10:100329878 [GRCh38]
Chr10:102089635 [GRCh37]
Chr10:10q24.31
likely benign
NM_016112.3(PKD2L1):c.1369A>G (p.Ile457Val) single nucleotide variant not provided [RCV000970464] Chr10:100295111 [GRCh38]
Chr10:102054868 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.1554G>A (p.Arg518=) single nucleotide variant not provided [RCV000884566] Chr10:100294640 [GRCh38]
Chr10:102054397 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.1186-9G>C single nucleotide variant not provided [RCV000967177] Chr10:100296301 [GRCh38]
Chr10:102056058 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.906C>T (p.Phe302=) single nucleotide variant not provided [RCV000888832] Chr10:100297432 [GRCh38]
Chr10:102057189 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.567C>T (p.Tyr189=) single nucleotide variant not provided [RCV000888833] Chr10:100298726 [GRCh38]
Chr10:102058483 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.2387G>A (p.Arg796His) single nucleotide variant not provided [RCV000893613] Chr10:100288427 [GRCh38]
Chr10:102048184 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.1973A>T (p.Gln658Leu) single nucleotide variant not provided [RCV000959885] Chr10:100291335 [GRCh38]
Chr10:102051092 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.819C>T (p.Asp273=) single nucleotide variant not provided [RCV000947279] Chr10:100297519 [GRCh38]
Chr10:102057276 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.1951C>T (p.Arg651Cys) single nucleotide variant not provided [RCV000909543] Chr10:100291357 [GRCh38]
Chr10:102051114 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.2127-3C>T single nucleotide variant not provided [RCV000889046] Chr10:100290141 [GRCh38]
Chr10:102049898 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.1056C>T (p.Ile352=) single nucleotide variant not provided [RCV000889346] Chr10:100297109 [GRCh38]
Chr10:102056866 [GRCh37]
Chr10:10q24.31
benign
NM_016112.3(PKD2L1):c.1356+8G>A single nucleotide variant not provided [RCV000912787] Chr10:100296114 [GRCh38]
Chr10:102055871 [GRCh37]
Chr10:10q24.31
likely benign
GRCh37/hg19 10q24.31(chr10:101932457-102392841)x3 copy number gain not provided [RCV001006350] Chr10:101932457..102392841 [GRCh37]
Chr10:10q24.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9011 AgrOrtholog
COSMIC PKD2L1 COSMIC
Ensembl Genes ENSG00000107593 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000325296 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434019 UniProtKB/TrEMBL
  ENSP00000434224 UniProtKB/TrEMBL
  ENSP00000436514 UniProtKB/TrEMBL
Ensembl Transcript ENST00000318222 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000465680 UniProtKB/TrEMBL
  ENST00000528248 UniProtKB/TrEMBL
  ENST00000532547 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107593 GTEx
HGNC ID HGNC:9011 ENTREZGENE
Human Proteome Map PKD2L1 Human Proteome Map
InterPro PKD1_2_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Volt_channel_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9033 UniProtKB/Swiss-Prot
NCBI Gene 9033 ENTREZGENE
OMIM 604532 OMIM
Pfam PKD_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33344 PharmGKB
PRINTS POLYCYSTIN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PRD1_HUMAN UniProtKB/TrEMBL
  H0YDN7_HUMAN UniProtKB/TrEMBL
  H0YET4_HUMAN UniProtKB/TrEMBL
  PK2L1_HUMAN UniProtKB/Swiss-Prot
  Q1L4F0 ENTREZGENE, UniProtKB/TrEMBL
  Q9P0L9 ENTREZGENE
UniProt Secondary O75972 UniProtKB/Swiss-Prot
  Q5W039 UniProtKB/Swiss-Prot
  Q9UP35 UniProtKB/Swiss-Prot
  Q9UPA2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PKD2L1  polycystin 2 like 1, transient receptor potential cation channel    polycystic kidney disease 2-like 1  Symbol and/or name change 5135510 APPROVED