PKD2L1 (polycystin 2 like 1, transient receptor potential cation channel)

Gene

• Entrez ID: 9033
• Gene name: Polycystin 2 like 1, transient receptor potential cation channel
• Gene symbol: PKD2L1
• Synonyms (NCBI Gene): PCL, PKD2L, PKDL, TRPP3
• Chromosome: 10
• Chromosome location: 10q24.31
• Summary: This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This pro

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018375	hsa-miR-335-5p	Microarray	18185580
MIRT2069850	hsa-miR-1827	CLIP-seq
MIRT2069851	hsa-miR-1976	CLIP-seq
MIRT2069852	hsa-miR-3612	CLIP-seq
MIRT2069853	hsa-miR-4459	CLIP-seq
MIRT2069854	hsa-miR-4695-5p	CLIP-seq
MIRT2069855	hsa-miR-650	CLIP-seq
MIRT2069851	hsa-miR-1976	CLIP-seq
MIRT2069850	hsa-miR-1827	CLIP-seq
MIRT2456566	hsa-miR-3180-5p	CLIP-seq
MIRT2069852	hsa-miR-3612	CLIP-seq
MIRT2456567	hsa-miR-3619-3p	CLIP-seq
MIRT2456568	hsa-miR-4276	CLIP-seq
MIRT2069853	hsa-miR-4459	CLIP-seq
MIRT2069854	hsa-miR-4695-5p	CLIP-seq
MIRT2456569	hsa-miR-4776-5p	CLIP-seq
MIRT2456570	hsa-miR-4800-5p	CLIP-seq
MIRT2069855	hsa-miR-650	CLIP-seq
MIRT2456571	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001581	Process	Detection of chemical stimulus involved in sensory perception of sour taste	IEA
GO:0001581	Process	Detection of chemical stimulus involved in sensory perception of sour taste	ISS
GO:0005227	Function	Calcium-activated cation channel activity	IDA	10517637, 11959145, 24336289, 25820328, 27754867, 29425510
GO:0005261	Function	Monoatomic cation channel activity	IDA	17944866, 30004384
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005272	Function	Sodium channel activity	IBA
GO:0005272	Function	Sodium channel activity	IDA	10517637
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	22193359
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	12525172, 23212381, 24336289, 25910212
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	23212381, 27754867
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	17944866
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006812	Process	Monoatomic cation transport	ISS
GO:0006816	Process	Calcium ion transport	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0008092	Function	Cytoskeletal protein binding	IPI	12809519
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	IEA
GO:0008324	Function	Monoatomic cation transmembrane transporter activity	ISS
GO:0009415	Process	Response to water	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0015269	Function	Calcium-activated potassium channel activity	IBA
GO:0015269	Function	Calcium-activated potassium channel activity	IDA	10517637
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	19812697
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9748274, 9878261
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033040	Function	Sour taste receptor activity	IEA
GO:0033040	Function	Sour taste receptor activity	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IEA
GO:0034704	Component	Calcium channel complex	IDA	24336289
GO:0034704	Component	Calcium channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	10517637
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0042805	Function	Actinin binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043235	Component	Receptor complex	IEA
GO:0043235	Component	Receptor complex	ISS
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0050912	Process	Detection of chemical stimulus involved in sensory perception of taste	IEA
GO:0050912	Process	Detection of chemical stimulus involved in sensory perception of taste	ISS
GO:0050915	Process	Sensory perception of sour taste	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0050982	Process	Detection of mechanical stimulus	IBA
GO:0051262	Process	Protein tetramerization	IEA
GO:0051289	Process	Protein homotetramerization	IDA	30004384
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051371	Function	Muscle alpha-actinin binding	IBA
GO:0051371	Function	Muscle alpha-actinin binding	IPI	17944866
GO:0051393	Function	Alpha-actinin binding	IPI	17944866
GO:0060170	Component	Ciliary membrane	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071467	Process	Cellular response to pH	IEA
GO:0071468	Process	Cellular response to acidic pH	IEA
GO:0071468	Process	Cellular response to acidic pH	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	10517637
GO:0097730	Component	Non-motile cilium	IDA	24336289
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	23212381
GO:0098662	Process	Inorganic cation transmembrane transport	IDA	30004384
GO:0098662	Process	Inorganic cation transmembrane transport	IEA
GO:0160128	Function	PH-gated monoatomic ion channel activity	IDA	23212381
GO:0160128	Function	PH-gated monoatomic ion channel activity	IEA
GO:0160128	Function	PH-gated monoatomic ion channel activity	ISS
GO:1990760	Function	Osmolarity-sensing monoatomic cation channel activity	IEA

Other IDs

• MIM: 604532
• HGNC: 9011
• e!Ensembl: ENSG00000107593

Protein

• UniProt ID: Q9P0L9
• Protein name: Polycystin-2-like protein 1 (Polycystin-2L1) (Polycystic kidney disease 2-like 1 protein) (Polycystin-2 homolog) (Polycystin-L) (Polycystin-L1)
• Protein function: Homotetrameric, non-selective cation channel that is permeable to sodium, potassium, magnesium and calcium (PubMed:10517637, PubMed:11959145, PubMed:25820328, PubMed:27754867, PubMed:29425510, PubMed:30004384). Also forms functionnal heteromeric
• PDB: 3TE3, 4GIF, 6DU8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08016	PKD_channel	145 → 567	Polycystin cation channel	Family
  PF18109	Fer4_24	702 → 736		Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in taste bud cells in fungiform papillae (at protein level) (PubMed:19812697). Ubiquitous (PubMed:9748274). Expressed in adult heart, skeletal muscle, brain, spleen, testis, retina and liver (PubMed:9748274, PubMed:9878261). I
• Sequence:

  MNAVGSPEGQELQKLGSGAWDNPAYSGPPSPHGTLRVCTISSTGPLQPQPKKPEDEPQET
  AYRTQVSSCCLHICQGIRGLWGTTLTENTAENRELYIKTTLRELLVYIVFLVDICLLTYG
  MTSSSAYYYTKVMSELFLHTPSDTGVSFQAISSMADFWDFAQGPLLDSLYWTKWYNNQSL
  GHGSHSFIYYENMLLGVPRLRQLKVRNDSCVVHEDFREDILSCYDVYSPDKEEQLPFGPF
  NGTAWTYHSQDELGGFSHWGRLTSYSGGGYYLDLPGSRQGSAEALRALQEGLWLDRGTRV
  VFIDFSVYNANINLFCVLRLVVEFPATGGAIPSWQIRTVKLIRYVSNWDFFIVGCEVIFC
  VFIFYYVVEEILELHIHRLRYLSSIWNILDLVVILLSIVAVGFHIFRTLEVNRLMGKLLQ
  QPNTYADFEFLAFWQTQYNNMNAVNLFFAWIKIFKYISFNKTMTQLSSTLARCAKDILGF
  AVMFFIVFFAYAQLGYLLFGTQVENFSTFIKCIFTQFRIILGDFDYNAIDNANRILGPAY
  FVTYVFFVFFVLLNMFLAIINDTYSEVKEELAGQKDELQLSDLLKQGYNKTLLRLRLRKE
  RVSDVQKVLQGGEQEIQFEDFTNTLRELGHAEHEITELTATFTKFDRDGNRILDEKEQEK
  MRQDLEEERVALNTEIEKLGRSIVSSPQGKSGPEAARAGGWVSGEEFYMLTRRVLQLETV
  LEGVVSQIDAVGSKLKMLERKGWLAPSPGVKEQAIWKHPQPAPAVTPDPWGVQGGQESEV
  PYKREEEALEERRLSRGEIPTLQRS

• Sequence length: 805

Pathways

KEGG:

Taste transduction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILIARY TRACT DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31769777		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31769777		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	17516770, 18669994, 20850185, 24796343, 26721900, 27255235, 27715314, 28092055, 28287840, 28594208, 28594218, 28741393, 29120846, 29172600, 29294686, 29366397, 29407724, 29469581, 29545126, 29633199, 29946511, 30216843, 30355022, 30650005, 30887147, 31104203, 31274196, 31488769, 31649591, 31661520		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	17516770, 29204908, 30774783		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	17516770, 29204908, 30774783		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	31190818		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30579126		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	9878261		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23682680, 29578215, 30618899		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29089761, 30178279		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31769777		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28566645		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASCAT_DG	29545352		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26503814		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30305215		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28487195		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35796550	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	31326243		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28581335, 28699144, 28843870, 29343229, 29805783, 30711869, 30774783, 30988893, 31033745, 31158781		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	32425885	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32425885	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	19812697		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28782783		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28901480		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28901480		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28240249, 28977853		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29204908		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31112795		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29310365		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27939302		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29545352		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30033270		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29310365		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23682680, 29578215		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31352936		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29089761, 30178279		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27487149		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28601755, 29578215, 30663422, 30890226		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27270209		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29627747		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28581335, 28699144, 28843870, 29805783, 30711869, 30774783, 30988893, 31033745, 31158781		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28594207, 28948699		★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	BEFREE	28782783		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28948699, 29193294		★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	BEFREE	30875671		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11524732, 28038447, 7681918		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21361311, 22548308, 23239404, 24582554, 27270209, 27487149, 28098871, 28240249, 28601755, 29042665, 30081302, 30178279, 30311803, 31691601, 31769777		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	28782783		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37831088	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	30471477		★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	29310365		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	28154010	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic kidney disease, type 2	Polycystic kidney disease	BEFREE	10602992, 9748274		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	11959145, 19812697, 29567962		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	19812697, 28154010	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	10517637, 9748274, 9878261		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	26100613, 26709579, 26751724, 27043048, 27605231, 27785533, 27893032, 27983759, 28129752, 28262136, 28314138, 28348720, 28437216, 28475593, 28494804, 28581276, 28589140, 28594207, 28624761, 28626208, 28645017, 28685258, 28765135, 28905129, 28948699, 28961597, 29069251, 29081489, 29085091, 29183285, 29193294, 29250928, 29280387, 29330769, 29343229, 29357779, 29395872, 29435200, 29441152, 29475105, 29510795, 29517690, 29554536, 29627700, 29630411, 29677606, 29685117, 29736219, 29757262, 29787532, 29896918, 30091801, 30102064, 30113182, 30269201, 30288087, 30326460, 30354698, 30375881, 30386291, 30470649, 30489096, 30529244, 30543451, 30551022, 30555358, 30579176, 30597679, 30618899, 30641341, 30660830, 30693070, 30774783, 30849715, 30878218, 30897529, 30934818, 30988893, 31033745, 31146712, 31158781, 31291223, 31401290, 31404354, 31508823, 31543835, 31646748, 31655035, 31679445, 31708812, 31821960		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	29310365		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27487149		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	28113083		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	22174898		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31129274		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29679159		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	31670896		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	31071606		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	30940304		★☆☆☆☆ Found in Text Mining only