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:9011
Description: Enables calcium ion binding activity; monoatomic ion channel activity; and muscle alpha-actinin binding activity. Involved in monoatomic cation transmembrane transport; protein homotetramerization; and sensory perception of sour taste. Located in several cellular components, including actin cytoskeleton; cytosol; and non-motile cilium. Part of calcium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PCL; PKD2L; PKDL; polycystic kidney disease (polycystin)-like; polycystic kidney disease 2-like 1 protein; polycystin-2 homolog; polycystin-2-like protein 1; 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810100,288,149 - 100,330,228 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10100,288,149 - 100,330,264 (-)EnsemblGRCh38hg38GRCh38
GRCh3710102,047,906 - 102,089,985 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,037,893 - 102,080,233 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410102,037,892 - 102,080,233NCBI
Celera1095,785,781 - 95,828,122 (-)NCBICelera
Cytogenetic Map10q24.31NCBI
HuRef1095,676,807 - 95,719,121 (-)NCBIHuRef
CHM1_110102,332,503 - 102,374,685 (-)NCBICHM1_1
T2T-CHM13v2.010101,172,443 - 101,214,450 (-)NCBIT2T-CHM13v2.0
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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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:23212381   PMID:23251661   PMID:23362303   PMID:24336289   PMID:24625756   PMID:24816252   PMID:25820328   PMID:25910212   PMID:27754867   PMID:28852171  
PMID:29230552   PMID:29425510   PMID:29567962   PMID:29899465   PMID:30004384   PMID:31315976   PMID:33268808   PMID:36655284   PMID:36922541   PMID:37831088  


Genomics

Comparative Map Data
PKD2L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810100,288,149 - 100,330,228 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10100,288,149 - 100,330,264 (-)EnsemblGRCh38hg38GRCh38
GRCh3710102,047,906 - 102,089,985 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,037,893 - 102,080,233 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410102,037,892 - 102,080,233NCBI
Celera1095,785,781 - 95,828,122 (-)NCBICelera
Cytogenetic Map10q24.31NCBI
HuRef1095,676,807 - 95,719,121 (-)NCBIHuRef
CHM1_110102,332,503 - 102,374,685 (-)NCBICHM1_1
T2T-CHM13v2.010101,172,443 - 101,214,450 (-)NCBIT2T-CHM13v2.0
Pkd2l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391944,136,076 - 44,235,355 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1944,136,076 - 44,180,881 (-)EnsemblGRCm39 Ensembl
GRCm381944,147,637 - 44,248,328 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1944,147,637 - 44,192,442 (-)EnsemblGRCm38mm10GRCm38
MGSCv371944,222,127 - 44,266,932 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361944,200,948 - 44,245,719 (-)NCBIMGSCv36mm8
Celera1944,933,088 - 44,971,513 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1936.91NCBI
Pkd2l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81252,982,096 - 253,019,235 (-)NCBIGRCr8
mRatBN7.21243,032,891 - 243,070,031 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1243,032,913 - 243,070,031 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1251,182,946 - 251,220,300 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01257,879,666 - 257,916,994 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01250,533,109 - 250,570,461 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01263,922,201 - 263,959,318 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1263,922,201 - 263,959,318 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01271,367,373 - 271,404,490 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41249,047,374 - 249,084,997 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v28112,172,821 - 112,215,281 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110112,178,140 - 112,220,600 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01096,889,228 - 96,932,177 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110100,370,083 - 100,412,366 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10100,370,083 - 100,412,366 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02813,514,442 - 13,544,711 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2813,514,692 - 13,544,618 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12813,061,160 - 13,091,425 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02813,099,244 - 13,129,512 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02813,233,508 - 13,263,795 (-)NCBIUU_Cfam_GSD_1.0
Pkd2l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721333,959,016 - 33,960,778 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004944487205 - 1,593 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKD2L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14111,399,071 - 111,460,995 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1993,319,408 - 93,363,389 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604854,321,567 - 54,368,696 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pkd2l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473712,102,976 - 12,137,737 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473712,097,134 - 12,137,574 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PKD2L1
77 total Variants

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 Poly (ADP-Ribose) polymerase 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 Poly (ADP-Ribose) polymerase 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
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1
uncertain significance
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
NM_016112.3(PKD2L1):c.2377A>G (p.Arg793Gly) single nucleotide variant not specified [RCV004299205] Chr10:100288437 [GRCh38]
Chr10:102048194 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.107G>A (p.Arg36Lys) single nucleotide variant not specified [RCV004111609] Chr10:100329997 [GRCh38]
Chr10:102089754 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1682A>G (p.Asn561Ser) single nucleotide variant not specified [RCV004103266] Chr10:100293357 [GRCh38]
Chr10:102053114 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2327A>G (p.Gln776Arg) single nucleotide variant not specified [RCV004233632] Chr10:100288980 [GRCh38]
Chr10:102048737 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1010G>A (p.Arg337His) single nucleotide variant not specified [RCV004193975] Chr10:100297155 [GRCh38]
Chr10:102056912 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1345G>A (p.Ala449Thr) single nucleotide variant not specified [RCV004221653] Chr10:100296133 [GRCh38]
Chr10:102055890 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.562A>G (p.Ile188Val) single nucleotide variant not specified [RCV004179618] Chr10:100298731 [GRCh38]
Chr10:102058488 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2220G>T (p.Arg740Ser) single nucleotide variant not specified [RCV004239498] Chr10:100290045 [GRCh38]
Chr10:102049802 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1385C>T (p.Thr462Ile) single nucleotide variant not specified [RCV004074444] Chr10:100295095 [GRCh38]
Chr10:102054852 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1406C>T (p.Thr469Met) single nucleotide variant not specified [RCV004235053] Chr10:100295074 [GRCh38]
Chr10:102054831 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1865C>T (p.Thr622Ile) single nucleotide variant not specified [RCV004184981] Chr10:100292963 [GRCh38]
Chr10:102052720 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.983G>C (p.Gly328Ala) single nucleotide variant not specified [RCV004135411] Chr10:100297182 [GRCh38]
Chr10:102056939 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1238G>A (p.Arg413Gln) single nucleotide variant not specified [RCV004244033] Chr10:100296240 [GRCh38]
Chr10:102055997 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1558A>C (p.Ile520Leu) single nucleotide variant not specified [RCV004167133] Chr10:100294636 [GRCh38]
Chr10:102054393 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.179C>T (p.Thr60Met) single nucleotide variant not specified [RCV004076435] Chr10:100329925 [GRCh38]
Chr10:102089682 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.128C>A (p.Thr43Lys) single nucleotide variant not specified [RCV004082963] Chr10:100329976 [GRCh38]
Chr10:102089733 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.617G>A (p.Arg206His) single nucleotide variant not specified [RCV004081222] Chr10:100298676 [GRCh38]
Chr10:102058433 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1528A>C (p.Ile510Leu) single nucleotide variant not specified [RCV004082007] Chr10:100294952 [GRCh38]
Chr10:102054709 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1133G>A (p.Arg378Gln) single nucleotide variant not specified [RCV004081366] Chr10:100297032 [GRCh38]
Chr10:102056789 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.578T>C (p.Met193Thr) single nucleotide variant not specified [RCV004176272] Chr10:100298715 [GRCh38]
Chr10:102058472 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.932A>G (p.Asn311Ser) single nucleotide variant not specified [RCV004266054] Chr10:100297406 [GRCh38]
Chr10:102057163 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_016112.3(PKD2L1):c.803G>A (p.Gly268Asp) single nucleotide variant not specified [RCV004296631] Chr10:100297535 [GRCh38]
Chr10:102057292 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_016112.3(PKD2L1):c.1139G>A (p.Arg380His) single nucleotide variant not specified [RCV004508957] Chr10:100297026 [GRCh38]
Chr10:102056783 [GRCh37]
Chr10:10q24.31
likely benign
NM_016112.3(PKD2L1):c.1271C>T (p.Thr424Met) single nucleotide variant not specified [RCV004508958] Chr10:100296207 [GRCh38]
Chr10:102055964 [GRCh37]
Chr10:10q24.31
likely benign
NM_016112.3(PKD2L1):c.1588G>T (p.Asp530Tyr) single nucleotide variant not specified [RCV004508963] Chr10:100294606 [GRCh38]
Chr10:102054363 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.857G>A (p.Arg286Gln) single nucleotide variant not specified [RCV004508977] Chr10:100297481 [GRCh38]
Chr10:102057238 [GRCh37]
Chr10:10q24.31
likely benign
NM_016112.3(PKD2L1):c.367A>G (p.Ser123Gly) single nucleotide variant not specified [RCV004356839] Chr10:100299701 [GRCh38]
Chr10:102059458 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.323T>C (p.Ile108Thr) single nucleotide variant not specified [RCV004347349] Chr10:100329237 [GRCh38]
Chr10:102088994 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2299C>T (p.Pro767Ser) single nucleotide variant not specified [RCV004356185] Chr10:100289008 [GRCh38]
Chr10:102048765 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.211C>A (p.Leu71Ile) single nucleotide variant not specified [RCV004508966] Chr10:100329893 [GRCh38]
Chr10:102089650 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.53G>A (p.Gly18Glu) single nucleotide variant not specified [RCV004508975] Chr10:100330051 [GRCh38]
Chr10:102089808 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2243C>A (p.Pro748Gln) single nucleotide variant not specified [RCV004508969] Chr10:100290022 [GRCh38]
Chr10:102049779 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.534G>C (p.Gln178His) single nucleotide variant not specified [RCV004508974] Chr10:100298759 [GRCh38]
Chr10:102058516 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1318A>C (p.Asn440His) single nucleotide variant not specified [RCV004508959] Chr10:100296160 [GRCh38]
Chr10:102055917 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2276C>T (p.Pro759Leu) single nucleotide variant not specified [RCV004508970] Chr10:100289031 [GRCh38]
Chr10:102048788 [GRCh37]
Chr10:10q24.31
likely benign
NM_016112.3(PKD2L1):c.2402C>T (p.Thr801Met) single nucleotide variant not specified [RCV004508973] Chr10:100288412 [GRCh38]
Chr10:102048169 [GRCh37]
Chr10:10q24.31
likely benign
NM_016112.3(PKD2L1):c.1498G>A (p.Gly500Arg) single nucleotide variant not specified [RCV004508962] Chr10:100294982 [GRCh38]
Chr10:102054739 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_016112.3(PKD2L1):c.1370T>A (p.Ile457Asn) single nucleotide variant not specified [RCV004508960] Chr10:100295110 [GRCh38]
Chr10:102054867 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2140G>T (p.Val714Phe) single nucleotide variant not specified [RCV004508967] Chr10:100290125 [GRCh38]
Chr10:102049882 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2317C>G (p.Gln773Glu) single nucleotide variant not specified [RCV004508971] Chr10:100288990 [GRCh38]
Chr10:102048747 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2380C>A (p.Leu794Ile) single nucleotide variant not specified [RCV004508972] Chr10:100288434 [GRCh38]
Chr10:102048191 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.722A>G (p.Asn241Ser) single nucleotide variant not specified [RCV004508976] Chr10:100298571 [GRCh38]
Chr10:102058328 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1954A>C (p.Ile652Leu) single nucleotide variant not specified [RCV004508964] Chr10:100291354 [GRCh38]
Chr10:102051111 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2202G>T (p.Lys734Asn) single nucleotide variant not specified [RCV004508968] Chr10:100290063 [GRCh38]
Chr10:102049820 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1486T>A (p.Tyr496Asn) single nucleotide variant not specified [RCV004508961] Chr10:100294994 [GRCh38]
Chr10:102054751 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2027T>C (p.Ile676Thr) single nucleotide variant not specified [RCV004508965] Chr10:100290500 [GRCh38]
Chr10:102050257 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.239T>G (p.Leu80Arg) single nucleotide variant not specified [RCV004657372] Chr10:100329321 [GRCh38]
Chr10:102089078 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.2174T>C (p.Val725Ala) single nucleotide variant not specified [RCV004657373] Chr10:100290091 [GRCh38]
Chr10:102049848 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.446A>C (p.Gln149Pro) single nucleotide variant not specified [RCV004657374] Chr10:100299622 [GRCh38]
Chr10:102059379 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1073T>C (p.Ile358Thr) single nucleotide variant not specified [RCV004657375] Chr10:100297092 [GRCh38]
Chr10:102056849 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.746C>T (p.Ser249Leu) single nucleotide variant not specified [RCV004648437] Chr10:100297592 [GRCh38]
Chr10:102057349 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_016112.3(PKD2L1):c.1918G>A (p.Ala640Thr) single nucleotide variant not specified [RCV004648439] Chr10:100291390 [GRCh38]
Chr10:102051147 [GRCh37]
Chr10:10q24.31
uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597136791GWAS1232865_H9-hydroxystearate measurement QTL GWAS1232865 (human)3e-14glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597249176GWAS1345250_Hlow density lipoprotein cholesterol measurement QTL GWAS1345250 (human)7e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)10100315722100315723Human
597530524GWAS1626598_Hlevel of oxylipin in blood plasma QTL GWAS1626598 (human)1e-22level of oxylipin in blood plasma10100315722100315723Human
597530526GWAS1626600_Hpalmitoleic acid measurement QTL GWAS1626600 (human)2e-64fatty acid amount (VT:0010046)10100315722100315723Human
407006279GWAS655255_Hlymphocyte count QTL GWAS655255 (human)3e-16blood carnitine amount (VT:0003977)red blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597076625GWAS1172699_HFEV change measurement, response to bronchodilator QTL GWAS1172699 (human)0.0000007FEV change measurement, response to bronchodilatorrespiratory system measurement (CMO:0000094)10100296751100296752Human
597246878GWAS1342952_Halkaline phosphatase measurement QTL GWAS1342952 (human)1e-23milk saturated fatty acid amount (VT:0010304)blood alkaline phosphatase activity level (CMO:0000576)10100315722100315723Human
597194386GWAS1290460_Hecosanoids measurement QTL GWAS1290460 (human)6e-31eicosanoid amount (VT:0010787)10100315722100315723Human
597223827GWAS1319901_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1319901 (human)7e-23aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)10100312261100312262Human
597143686GWAS1239760_Hmyristoleate 14:1n5 measurement QTL GWAS1239760 (human)7e-16myristoleate 14:1n5 measurement10100315722100315723Human
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
597298574GWAS1394648_Hdiglyceride measurement QTL GWAS1394648 (human)5e-09diglyceride measurement10100315722100315723Human
597613706GWAS1670566_Hskin disease QTL GWAS1670566 (human)6e-12skin disease10100315722100315723Human
597611147GWAS1668007_Hmean platelet volume QTL GWAS1668007 (human)4e-18milk saturated fatty acid amount (VT:0010304)mean platelet volume (CMO:0001348)10100315722100315723Human
597143950GWAS1240024_Hstearate 18:0 measurement QTL GWAS1240024 (human)6e-21stearate 18:0 measurement10100315722100315723Human
597270663GWAS1366737_Hlow density lipoprotein cholesterol measurement QTL GWAS1366737 (human)1e-15low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)10100315722100315723Human
597254790GWAS1350864_Hapolipoprotein B measurement QTL GWAS1350864 (human)8e-16apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)10100315722100315723Human
597322426GWAS1418500_Hlevel of Phosphatidylcholine (O-18:0_16:1) in blood serum QTL GWAS1418500 (human)5e-10level of Phosphatidylcholine (16:1_18:2) in blood serum10100315722100315723Human
597138099GWAS1234173_H1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) measurement QTL GWAS1234173 (human)2e-25glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597077424GWAS1173498_Hheel bone mineral density QTL GWAS1173498 (human)3e-125-dodecenoylcarnitine (C12:1) measurementbone mineral density (CMO:0001226)10100315722100315723Human
597531573GWAS1627647_Hwaist circumference, palmitoleic acid measurement QTL GWAS1627647 (human)5e-61fatty acid amount (VT:0010046)waist circumference (CMO:0000242)10100315722100315723Human
597073595GWAS1169669_Hcoronary artery disease QTL GWAS1169669 (human)0.000003coronary artery disease10100315722100315723Human
597054649GWAS1150723_Hsystolic blood pressure QTL GWAS1150723 (human)2e-12heptadecanoic acid measurementsystolic blood pressure (CMO:0000004)10100315722100315723Human
597140902GWAS1236976_H5-dodecenoate 12:1n7 measurement QTL GWAS1236976 (human)9e-205-dodecenoate 12:1n7 measurement10100315722100315723Human
597327785GWAS1423859_H1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) measurement QTL GWAS1423859 (human)2e-22glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597530537GWAS1626611_Hlevel of oxylipin in blood plasma QTL GWAS1626611 (human)2e-20level of oxylipin in blood plasma10100315722100315723Human
597062051GWAS1158125_Hsquamous cell lung carcinoma QTL GWAS1158125 (human)0.000001squamous cell lung carcinoma10100289222100289223Human
407144306GWAS793282_Hmetabolite measurement QTL GWAS793282 (human)3e-57metabolite measurement10100315722100315723Human
597610153GWAS1667013_Hmean platelet volume QTL GWAS1667013 (human)2e-24mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597327783GWAS1423857_Hpalmitoleate 16:1n7 measurement QTL GWAS1423857 (human)9e-37palmitoleate 16:1n7 measurement10100315722100315723Human
597141463GWAS1237537_Hpalmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] measurement QTL GWAS1237537 (human)2e-11lysophosphatidylcholine 17:1 measurement10100315722100315723Human
597194201GWAS1290275_Hecosanoids measurement QTL GWAS1290275 (human)8e-33eicosanoid amount (VT:0010787)10100315722100315723Human
597141461GWAS1237535_Hpalmitoleate 16:1n7 measurement QTL GWAS1237535 (human)5e-16palmitoleate 16:1n7 measurement10100315722100315723Human
597426142GWAS1522216_Hlysophosphatidylcholine measurement QTL GWAS1522216 (human)9e-12lysophosphatidylcholine measurementblood phospholipid level (CMO:0001169)10100329906100329907Human
597126096GWAS1222170_Hlysophosphatidylcholine measurement QTL GWAS1222170 (human)4e-11lysophosphatidylcholine measurementblood phospholipid level (CMO:0001169)10100315722100315723Human
597324497GWAS1420571_H1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) measurement QTL GWAS1420571 (human)4e-50glycerophosphocholine amount (VT:0011004)10100315722100315723Human
406952204GWAS601180_Hparental longevity QTL GWAS601180 (human)0.000002total life span (VT:0001661)10100288886100288887Human
407142155GWAS791131_Hfatty acid measurement QTL GWAS791131 (human)6e-15fatty acid measurement10100315722100315723Human
597138136GWAS1234210_Hdecadienedioic acid (C10:2-DC) measurement QTL GWAS1234210 (human)8e-20decadienedioic acid (C10:2-DC) measurement10100315722100315723Human
597268936GWAS1365010_Hstearic acid measurement QTL GWAS1365010 (human)4e-18milk saturated fatty acid amount (VT:0010304)10100315722100315723Human
597136582GWAS1232656_H5-dodecenoate 12:1n7 measurement QTL GWAS1232656 (human)9e-135-dodecenoate 12:1n7 measurement10100315722100315723Human
597187786GWAS1283860_Hpalmitoleoylcarnitine (C16:1) measurement QTL GWAS1283860 (human)6e-12palmitoleoylcarnitine (C16:1) measurement10100315722100315723Human
597188300GWAS1284374_H1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) measurement QTL GWAS1284374 (human)2e-18glycerophosphocholine amount (VT:0011004)10100315722100315723Human
407141917GWAS790893_Hfatty acid measurement QTL GWAS790893 (human)0.0000002fatty acid measurement10100315722100315723Human
597247682GWAS1343756_Hserum alanine aminotransferase measurement QTL GWAS1343756 (human)2e-35serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)10100312261100312262Human
597027062GWAS1123136_Hserum metabolite measurement QTL GWAS1123136 (human)3e-13low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)10100315722100315723Human
597140212GWAS1236286_Hmyristate 14:0-to-myristoleate 14:1n5 ratio QTL GWAS1236286 (human)1e-115myristate 14:0-to-myristoleate 14:1n5 ratio10100315722100315723Human
597128179GWAS1224253_Hlysophosphatidylcholine measurement QTL GWAS1224253 (human)1e-42lysophosphatidylcholine measurementblood phospholipid level (CMO:0001169)10100315722100315723Human
407147041GWAS796017_Hobsolete_red blood cell distribution width QTL GWAS796017 (human)9e-16obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597530872GWAS1626946_Hecosanoids measurement QTL GWAS1626946 (human)1e-56eicosanoid amount (VT:0010787)10100315722100315723Human
406919719GWAS568695_Hvaccenic acid measurement QTL GWAS568695 (human)2e-16fatty acid amount (VT:0010046)diastolic blood pressure (CMO:0000005)10100315722100315723Human
597043440GWAS1139514_Hserum metabolite measurement QTL GWAS1139514 (human)7e-11serum metabolite measurement10100315722100315723Human
406919720GWAS568696_Hpalmitoleic acid measurement QTL GWAS568696 (human)4e-15fatty acid amount (VT:0010046)blood lymphocyte count (CMO:0000031)10100315722100315723Human
597076730GWAS1172804_HFEV change measurement, response to bronchodilator QTL GWAS1172804 (human)2e-09FEV change measurement, response to bronchodilatorrespiratory system measurement (CMO:0000094)10100295789100295790Human
597617394GWAS1674254_Hbiliary tract disease QTL GWAS1674254 (human)6e-13biliary tract disease10100297481100297482Human
407093806GWAS742782_Hobsolete_red blood cell distribution width QTL GWAS742782 (human)1e-18eicosanoid amount (VT:0010787)red blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
406938668GWAS587644_Hheel bone mineral density QTL GWAS587644 (human)5e-25heel bone mineral densitybone mineral density (CMO:0001226)10100315722100315723Human
407049518GWAS698494_Hlysophosphatidylcholine 16:1 measurement QTL GWAS698494 (human)0.0000004glycerophosphocholine amount (VT:0011004)10100327281100327282Human
597141240GWAS1237314_Hmyristoleate 14:1n5 measurement QTL GWAS1237314 (human)5e-14palmitoleoylcarnitine (C16:1) measurement10100315722100315723Human
597138663GWAS1234737_Hbone density QTL GWAS1234737 (human)3e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10100315722100315723Human
407045169GWAS694145_Hantioxidant measurement QTL GWAS694145 (human)0.000002antioxidant measurement10100306428100306429Human
406919731GWAS568707_Hvaccenic acid measurement QTL GWAS568707 (human)6e-17fatty acid amount (VT:0010046)10100315722100315723Human
597040610GWAS1136684_Hlow density lipoprotein cholesterol measurement QTL GWAS1136684 (human)3e-11monocyte quantity (VT:0000223)mean platelet volume (CMO:0001348)10100315722100315723Human
597084640GWAS1180714_Hserum metabolite measurement QTL GWAS1180714 (human)2e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)10100315722100315723Human
597391843GWAS1487917_HBMI-adjusted waist circumference QTL GWAS1487917 (human)3e-08body size trait (VT:0100005)10100329906100329907Human
597297635GWAS1393709_Hphosphatidylcholine measurement QTL GWAS1393709 (human)9e-12glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597297632GWAS1393706_Hlysophosphatidylcholine 16:1 measurement QTL GWAS1393706 (human)7e-20glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597325024GWAS1421098_H5-dodecenoate 12:1n7 measurement QTL GWAS1421098 (human)5e-305-dodecenoate 12:1n7 measurement10100315722100315723Human
597224420GWAS1320494_Halkaline phosphatase measurement QTL GWAS1320494 (human)4e-35alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)10100315722100315723Human
597136872GWAS1232946_H1-stearyl-GPC (O-18:0) measurement QTL GWAS1232946 (human)8e-081-stearyl-GPC (O-18:0) measurement10100315722100315723Human
597229849GWAS1325923_Hheel bone mineral density QTL GWAS1325923 (human)7e-31heel bone mineral densitybone mineral density (CMO:0001226)10100315722100315723Human
597602078GWAS1658938_Hmean platelet volume QTL GWAS1658938 (human)1e-36mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597194009GWAS1290083_Hecosanoids measurement QTL GWAS1290083 (human)2e-50eicosanoid amount (VT:0010787)10100315722100315723Human
597085716GWAS1181790_Hmean platelet volume QTL GWAS1181790 (human)1e-71mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597079573GWAS1175647_HRed cell distribution width QTL GWAS1175647 (human)9e-16Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597088530GWAS1184604_Hserum metabolite measurement QTL GWAS1184604 (human)2e-15serum metabolite measurement10100315722100315723Human
597088531GWAS1184605_Hserum metabolite measurement QTL GWAS1184605 (human)3e-17fatty acid amount (VT:0010046)10100315722100315723Human
597088529GWAS1184603_Hserum metabolite measurement QTL GWAS1184603 (human)2e-13blood lipid amount (VT:0003949)10100315722100315723Human
597194015GWAS1290089_Hecosanoids measurement QTL GWAS1290089 (human)2e-30eicosanoid amount (VT:0010787)10100315722100315723Human
597157917GWAS1253991_Hfatty acid measurement QTL GWAS1253991 (human)2e-10lymphocyte measurement, neutrophil measurementsystolic blood pressure (CMO:0000004)10100315722100315723Human
407266251GWAS915227_Hobsolete_red blood cell distribution width QTL GWAS915227 (human)5e-18obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597322516GWAS1418590_Hpalmitoleate 16:1n7 measurement QTL GWAS1418590 (human)8e-22palmitoleate 16:1n7 measurement10100315722100315723Human
597047303GWAS1143377_HRed cell distribution width QTL GWAS1143377 (human)1e-18glycerophosphocholine amount (VT:0011004)red blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597454350GWAS1550424_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1550424 (human)2e-09aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)10100329906100329907Human
597320457GWAS1416531_Hserum metabolite measurement QTL GWAS1416531 (human)7e-28serum metabolite measurement10100315722100315723Human
407163089GWAS812065_Hserum metabolite measurement QTL GWAS812065 (human)1e-11level of Phosphatidylcholine (16:1_18:1) in blood serum10100315722100315723Human
597138442GWAS1234516_H1-palmitoleoyl-GPC (16:1) measurement QTL GWAS1234516 (human)1e-24glycerophosphocholine amount (VT:0011004)10100315722100315723Human
596957962GWAS1077481_HRed cell distribution width QTL GWAS1077481 (human)1e-18glycerophosphocholine amount (VT:0011004)red blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597112329GWAS1208403_Hdiastolic blood pressure QTL GWAS1208403 (human)2e-17eicosanoid amount (VT:0010787)waist circumference (CMO:0000242)10100315722100315723Human
597611521GWAS1668381_Hmean platelet volume QTL GWAS1668381 (human)8e-23mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597603388GWAS1660248_Hmean platelet volume QTL GWAS1660248 (human)8e-38mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597321533GWAS1417607_Hmyristoleate 14:1n5 measurement QTL GWAS1417607 (human)7e-19myristoleate 14:1n5 measurement10100315722100315723Human
597288245GWAS1384319_Hfatty acid measurement QTL GWAS1384319 (human)7e-41fatty acid measurement10100315722100315723Human
597297975GWAS1394049_Hphosphatidylcholine measurement QTL GWAS1394049 (human)9e-19glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597158456GWAS1254530_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS1254530 (human)2e-08low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)10100315722100315723Human
597185064GWAS1281138_Hmetabolite measurement QTL GWAS1281138 (human)4e-12blood triglyceride amount (VT:0002644)10100315722100315723Human
597083943GWAS1180017_Hcoronary artery disease QTL GWAS1180017 (human)6e-09body height (VT:0001253)body height (CMO:0000106)10100315722100315723Human
597305384GWAS1401458_Hcoronary artery disease QTL GWAS1401458 (human)0.000009coronary artery disease10100315722100315723Human
597165359GWAS1261433_Hfatty acid measurement QTL GWAS1261433 (human)2e-21fatty acid measurement10100315722100315723Human
597082415GWAS1178489_Hmean platelet volume QTL GWAS1178489 (human)5e-110mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597289251GWAS1385325_Hfatty acid measurement QTL GWAS1385325 (human)8e-62fatty acid measurement10100315722100315723Human
597296422GWAS1392496_Htriacylglycerol 52:3 measurement QTL GWAS1392496 (human)4e-10blood triglyceride amount (VT:0002644)10100315722100315723Human
597157930GWAS1254004_Hfatty acid measurement QTL GWAS1254004 (human)5e-21fatty acid measurement10100315722100315723Human
597131561GWAS1227635_Hsystolic blood pressure QTL GWAS1227635 (human)1e-10lysophosphatidylcholine 17:1 measurementblood hemoglobin A1c level (CMO:0002786)10100315722100315723Human
597317978GWAS1414052_H1-(1-enyl-stearoyl)-2-oleoyl-GPC (P-18:0/18:1) measurement QTL GWAS1414052 (human)6e-24glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597076052GWAS1172126_Hheel bone mineral density QTL GWAS1172126 (human)3e-09heel bone mineral densitybone mineral density (CMO:0001226)10100315722100315723Human
597136469GWAS1232543_H1-palmitoleoyl-GPC (16:1) measurement QTL GWAS1232543 (human)8e-43glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597224795GWAS1320869_Htotal cholesterol measurement QTL GWAS1320869 (human)1e-12level of oxylipin in blood plasmablood total cholesterol level (CMO:0000051)10100315722100315723Human
597188188GWAS1284262_Hdecadienedioic acid (C10:2-DC) measurement QTL GWAS1284262 (human)4e-22decadienedioic acid (C10:2-DC) measurement10100315722100315723Human
597052499GWAS1148573_Hcardiovascular disease QTL GWAS1148573 (human)7e-09systolic blood pressuresystolic blood pressure (CMO:0000004)10100315722100315723Human
597136466GWAS1232540_H1-palmitoleoylglycerol (16:1) measurement QTL GWAS1232540 (human)9e-10milk monoacylglycerol amount (VT:0010386)10100315722100315723Human
597264466GWAS1360540_Hlevel of Sterol ester (27:1/16:1) in blood serum QTL GWAS1360540 (human)2e-09ceramide measurement10100315722100315723Human
597299281GWAS1395355_Hlysophosphatidylcholine measurement QTL GWAS1395355 (human)5e-36lysophosphatidylcholine measurementblood phospholipid level (CMO:0001169)10100315722100315723Human
596955992GWAS1075511_Hlymphocyte measurement, neutrophil measurement QTL GWAS1075511 (human)2e-10lymphocyte countsystolic blood pressure (CMO:0000004)10100315722100315723Human
597295958GWAS1392032_Hlysophosphatidylcholine 16:1 measurement QTL GWAS1392032 (human)3e-26glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597295959GWAS1392033_Hlysophosphatidylcholine 16:1 measurement QTL GWAS1392033 (human)2e-31glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597194582GWAS1290656_Hecosanoids measurement QTL GWAS1290656 (human)1e-13blood triglyceride amount (VT:0002644)diastolic blood pressure (CMO:0000005)10100315722100315723Human
407159179GWAS808155_Hgut microbiome measurement QTL GWAS808155 (human)0.000003gut microbiome measurement10100309578100309579Human
406920336GWAS569312_Hmean platelet volume QTL GWAS569312 (human)5e-31mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597082692GWAS1178766_Hmean platelet volume QTL GWAS1178766 (human)3e-108mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597187658GWAS1283732_Htetradecadienedioate (C14:2-DC) measurement QTL GWAS1283732 (human)4e-17tetradecadienedioate (C14:2-DC) measurement10100315722100315723Human
597193803GWAS1289877_Hecosanoids measurement QTL GWAS1289877 (human)2e-36eicosanoid amount (VT:0010787)10100315722100315723Human
597032256GWAS1128330_Hheel bone mineral density QTL GWAS1128330 (human)4e-41heel bone mineral densitybone mineral density (CMO:0001226)10100315722100315723Human
597605195GWAS1662055_Hmean platelet volume QTL GWAS1662055 (human)6e-27mean platelet volumemean platelet volume (CMO:0001348)10100315722100315723Human
597102146GWAS1198220_Halkaline phosphatase measurement QTL GWAS1198220 (human)4e-16alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)10100315722100315723Human
596950851GWAS1070370_HRed cell distribution width QTL GWAS1070370 (human)5e-18Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597138255GWAS1234329_H1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement QTL GWAS1234329 (human)6e-11blood triglyceride amount (VT:0002644)10100315722100315723Human
597264192GWAS1360266_Hdiastolic blood pressure QTL GWAS1360266 (human)6e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)10100315722100315723Human
597193796GWAS1289870_Hecosanoids measurement QTL GWAS1289870 (human)5e-72eicosanoid amount (VT:0010787)10100315722100315723Human
597255492GWAS1351566_Haspartate aminotransferase measurement QTL GWAS1351566 (human)2e-19aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)10100312261100312262Human
407143834GWAS792810_Hphospholipid measurement QTL GWAS792810 (human)6e-14phospholipid measurement10100315722100315723Human
597193798GWAS1289872_Hecosanoids measurement QTL GWAS1289872 (human)2e-113eicosanoid amount (VT:0010787)10100315722100315723Human
597193799GWAS1289873_Hecosanoids measurement QTL GWAS1289873 (human)4e-42eicosanoid amount (VT:0010787)10100315722100315723Human
596950900GWAS1070419_HRed cell distribution width QTL GWAS1070419 (human)9e-16Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597224056GWAS1320130_HBMI-adjusted waist circumference QTL GWAS1320130 (human)4e-08body size trait (VT:0100005)10100315722100315723Human
597295986GWAS1392060_Hphosphatidylcholine measurement QTL GWAS1392060 (human)3e-18phosphatidylcholine measurement10100315722100315723Human
597086844GWAS1182918_Hlymphocyte count QTL GWAS1182918 (human)4e-14glycerophosphocholine amount (VT:0011004)blood lymphocyte count (CMO:0000031)10100315722100315723Human
597028473GWAS1124547_Hfatty acid desaturase enzyme activity measurement QTL GWAS1124547 (human)2e-19glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597128059GWAS1224133_Hfatty acid measurement QTL GWAS1224133 (human)5e-11glycerophosphocholine amount (VT:0011004)10100315722100315723Human
597295991GWAS1392065_Hphosphatidylcholine measurement QTL GWAS1392065 (human)9e-09phosphatidylcholine measurement10100315722100315723Human
597296744GWAS1392818_Hacylcarnitine measurement QTL GWAS1392818 (human)1e-19acylcarnitine measurement10100315722100315723Human
597144421GWAS1240495_Hpalmitoleate 16:1n7 measurement QTL GWAS1240495 (human)1e-14palmitoleate 16:1n7 measurement10100315722100315723Human
597080172GWAS1176246_HRed cell distribution width QTL GWAS1176246 (human)5e-18Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)10100315722100315723Human
597531239GWAS1627313_Hwaist circumference, level of oxylipin in blood plasma QTL GWAS1627313 (human)1e-20waist circumference, level of oxylipin in blood plasmawaist circumference (CMO:0000242)10100315722100315723Human
597293666GWAS1389740_Htriacylglycerol 50:1 measurement QTL GWAS1389740 (human)8e-09blood triglyceride amount (VT:0002644)10100315722100315723Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1152 1903 2113 1592 4266 1447 1975 3 592 1508 449 1794 5530 5126 27 3451 722 1516 1271 148 1

Sequence


Ensembl Acc Id: ENST00000318222   ⟹   ENSP00000325296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,288,149 - 100,330,228 (-)Ensembl
Ensembl Acc Id: ENST00000465680   ⟹   ENSP00000434019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,288,160 - 100,329,972 (-)Ensembl
Ensembl Acc Id: ENST00000528248   ⟹   ENSP00000436514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10100,288,396 - 100,329,940 (-)Ensembl
Ensembl Acc Id: ENST00000532547   ⟹   ENSP00000434224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.010101,172,443 - 101,214,450 (-)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
T2T-CHM13v2.010101,172,443 - 101,214,450 (-)NCBI
Sequence:
RefSeq Acc Id: NP_057196   ⟸   NM_016112
- Peptide Label: isoform 1
- UniProtKB: Q9P0L9 (UniProtKB/Swiss-Prot),   Q9UP35 (UniProtKB/Swiss-Prot),   Q5W039 (UniProtKB/Swiss-Prot),   O75972 (UniProtKB/Swiss-Prot),   Q9UPA2 (UniProtKB/Swiss-Prot),   Q1L4F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001240766   ⟸   NM_001253837
- Peptide Label: isoform 2
- UniProtKB: Q1L4F0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000434019   ⟸   ENST00000465680
Ensembl Acc Id: ENSP00000434224   ⟸   ENST00000532547
Ensembl Acc Id: ENSP00000436514   ⟸   ENST00000528248
Ensembl Acc Id: ENSP00000325296   ⟸   ENST00000318222
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P0L9-F1-model_v2 AlphaFold Q9P0L9 1-805 view protein structure

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

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 Transcript ENST00000318222 ENTREZGENE
  ENST00000318222.4 UniProtKB/Swiss-Prot
  ENST00000465680.2 UniProtKB/TrEMBL
  ENST00000528248.1 UniProtKB/TrEMBL
  ENST00000532547.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.120.350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.5.340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand 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
  Polycystin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Polycystin_dom 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
PANTHER POLYCYSTIN FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYCYSTIN-2-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fer4_24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKD_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Polycystin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33344 PharmGKB
PRINTS POLYCYSTIN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PRD1_HUMAN UniProtKB/TrEMBL
  H0YDN7_HUMAN UniProtKB/TrEMBL
  H0YET4_HUMAN UniProtKB/TrEMBL
  O75972 ENTREZGENE
  PK2L1_HUMAN UniProtKB/Swiss-Prot
  Q1L4F0 ENTREZGENE, UniProtKB/TrEMBL
  Q5W039 ENTREZGENE
  Q9P0L9 ENTREZGENE
  Q9UP35 ENTREZGENE
  Q9UPA2 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