Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	114780
Gene name	Polycystin 1 like 2 (gene/pseudogene)
Gene symbol	PKD1L2
Synonyms (NCBI Gene)	PC1L2
Chromosome	16
Chromosome location	16q23.2
Summary	This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may f

Show/Hide all (33)

miRTarBase ID	miRNA	Experiments
MIRT1237230	hsa-miR-122	CLIP-seq
MIRT1237231	hsa-miR-3150a-3p	CLIP-seq
MIRT1237232	hsa-miR-3151	CLIP-seq
MIRT1237233	hsa-miR-3175	CLIP-seq
MIRT1237234	hsa-miR-3190	CLIP-seq
MIRT1237235	hsa-miR-3202	CLIP-seq
MIRT1237236	hsa-miR-4265	CLIP-seq
MIRT1237237	hsa-miR-4278	CLIP-seq
MIRT1237238	hsa-miR-4296	CLIP-seq
MIRT1237239	hsa-miR-4322	CLIP-seq
MIRT1237240	hsa-miR-4433	CLIP-seq
MIRT1237241	hsa-miR-4447	CLIP-seq
MIRT1237242	hsa-miR-4455	CLIP-seq
MIRT1237243	hsa-miR-4472	CLIP-seq
MIRT1237244	hsa-miR-4676-5p	CLIP-seq
MIRT1237245	hsa-miR-4700-3p	CLIP-seq
MIRT1237246	hsa-miR-4712-5p	CLIP-seq
MIRT1237247	hsa-miR-4716-3p	CLIP-seq
MIRT1237248	hsa-miR-4747-5p	CLIP-seq
MIRT1237249	hsa-miR-4786-3p	CLIP-seq
MIRT1237250	hsa-miR-491-5p	CLIP-seq
MIRT1237251	hsa-miR-574-5p	CLIP-seq
MIRT1237252	hsa-miR-575	CLIP-seq
MIRT1237253	hsa-miR-671-5p	CLIP-seq
MIRT1237254	hsa-miR-770-5p	CLIP-seq
MIRT1237255	hsa-miR-939	CLIP-seq
MIRT2069830	hsa-miR-1285	CLIP-seq
MIRT2069831	hsa-miR-3187-5p	CLIP-seq
MIRT2069832	hsa-miR-378g	CLIP-seq
MIRT2069833	hsa-miR-4470	CLIP-seq
MIRT2069834	hsa-miR-4486	CLIP-seq
MIRT2069835	hsa-miR-4693-3p	CLIP-seq
MIRT2069836	hsa-miR-612	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence
GO:0005262	Function	Calcium channel activity	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0050982	Process	Detection of mechanical stimulus	IBA
GO:0070588	Process	Calcium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
607894	21715	ENSG00000166473

Q7Z442

Protein name

Polycystin-1-like protein 2 (Polycystin-1L2) (PC1-like 2 protein) (Polycystic kidney disease protein 1-like 2)

Protein function

May function as a G-protein-coupled receptor.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00059	Lectin_C	45 → 154	Lectin C-type domain	Domain
PF02140	Gal_Lectin	169 → 251	Galactose binding lectin domain	Domain
PF02010	REJ	582 → 898	REJ domain	Family
PF01825	GPS	1280 → 1320	GPCR proteolysis site, GPS, motif	Motif
PF01477	PLAT	1392 → 1500	PLAT/LH2 domain	Domain
PF08016	PKD_channel	1985 → 2401	Polycystin cation channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested including brain, placenta, mammary gland, testis, lung and liver. Highest expression in skeletal muscle. Isoform 2 is expressed in heart and kidney. {ECO:0000269|PubMed:12782129}.

Sequence

MSAVGLVLLVLALRLRATTVKPEEGSFCSNSQVAFRDACYEFVPLGRTFRDAQSWCEGQG
GHLVFIQDEGTQWFLQKHISQDREWWIGLTWNLARNGTTEGPGTWLDTSNVTYSNWHGGQ
AAAAPDTCGHIGRGPSSEWVTSDCAQTFAFMCEFRVGQSLACEGLNATVHCGLGQVIQVQ
DAVYGRQNPHFCTQDAGRPSDLEQGCSWANVKEEVAGQCQELQSCQVAADETYFGNLCPT
QGSYLWVQYQCREALQLMVSSESFIFDNVTISLTWLLSPYIGNLSCIISTGDSHTFDPYN
PPSVSSNVTHQFTSPGEFTVFAECTTSEWHVTAQRQVTVRDKMETLSVTACSGLSQSGAG
PLCQAVFGDPLWIQVELDGGTGVTYTVLLGDITLAESTTQKGSLPYNLILDRETQKLMGP
GRHRLEIQATGNTTTSTISRNITVHLVELLSGLQASWASDHLELGQDLLITISLAQGTPE
ELTFEVAGLNATFSHEQVSFGEPFGICRLAVPVEGTFLVTMLVRNAFSNLSLEIGNITIT
APSGLQEPSGMNAEGKSKDKGDMEVYIQPGPYVDPFTTVTLGWPDNDKELRFQWSCGSCW
ALWSSCVERQLLRTDQRELVVPASCLPPPDSAVTLRLAVLRGQELENRAEQCLYVSAPWE
LRPRVSCERNCRPVNASKDILLRVTMGEDSPVAMFSWYLDNTPTEQAEPLLDACRLRGFW
PRSLTLLQSNTSTLLLNSSFLQSRGEVIRIRATALTRHAYGEDTYVISTVPPREVPACTI
APEEGTVLTSFAIFCNASTALGPLEFCFCLESGSCLHCGPEPALPSVYLPLGEENNDFVL
TVVISATNRAGDTQQTQAMAKVALGDTCVEDVAFQAAVSEKIPTALQGEGGPEQLLQLAK
AVSSMLNQEHESQGSGQSLSIDVRQKVREHVLGSLSAVTTGLEDVQRVQELAEVLREVTC
RSKELTPSAQWEASLALQHASEALLTVSAKARPEDQRRQAATRDLFQAVGSVLEASLSNR
PEEPAEASSSQIATVLRLLRVMEHVQTTLLLGKLPGGLPAMLATPSISVYTNRIQPWSWQ
GSSLRPDAADSATFMLPAASSLSSLEGGQEPVDIKIMSFPKSPFPARSHFDVSGTVGGLR
VTSPSGQLIPVKNLSENIEILLPRHSQRHSQPTVLNLTSPEALWVNVTSGEATLGIQLHW
RPDIALTLSLGYGYHPNKSSYDAQTHLVPMVAPDELPTWILSPQDLRFGEGVYYLTVVPE
SDLEPAPGRDLTVGITTFLSHCVFWDEVQETWDDSGCQVGPRTSPYQTHCLCNHLTFFGS
TFLVMSNAINIHQTAELFATFEDNPVVVTTVGCLCVVYVLVVIWARRKDAQDQAKVKVTV
LEDNDPFAQYHYLVTVYTGHRRGAATSSKVTVTLYGLDGEREPHHLADPDTPVFERGAVD
AFLLSTLFPLGELRSLRLWHDNSGDRPSWYVSRVLVYDLVMDRKWYFLCNSWLSINVGDC
VLDKVFPVATEQDRKQFSHLFFMKTSAGFQDGHIWYSIFSRCARSSFTRVQRVSCCFSLL
LCTMLTSIMFWGVPKDPAEQKMDLGKIEFTWQEVMIGLESSILMFPINLLIVQIFQNTRP
RVAKEQNTGKWDRGSPNLTPSPQPMEDGLLTPEAVTKDVSRIVSSLFKALKVPSPALGWD
SVNLMDINSLLALVEDVIYPQNTSGQVFWEEAKKREDPVTLTLGSSEMKEKSQCPKPKAA
RSGPWKDSAYRQCLYLQLEHVEQELRLVGPRGFSQPHSHAQALRQLQTLKGGLGVQPGTW
APAHASALQVSKPPQGLPWWCILVGWLLVAATSGVAAFFTMLYGLHYGRASSLRWLISMA
VSFVESMFVTQPLKVLGFAAFFALVLKRVDDEEDTVAPLPGHLLGPDPYALFRARRNSSR
DVYQPPLTAAIEKMKTTHLKEQKAFALIREILAYLGFLWMLLLVAYGQRDPSAYHLNRHL
QHSFTRGFSGVLGFREFFKWANTTLVSNLYGHPPGFITDGNSKLVGSAQIRQVRVQESSC
PLAQQPQAYLNGCRAPYSLDAEDMADYGEGWNATTLSEWQYQSQDQRQGYPIWGKLTVYR
GGGYVVPLGTDRQSTSRILRYLFDNTWLDALTRAVFVESTVYNANVNLFCIVTLTLETSA
LGTFFTHAALQSLRLYPFTDGWHPFVVAAELIYFLFLLYYMVVQGKRMSKETWGYFCSKW
NLLELAIILASWSALAVFVKRAVLAERDLQRCRNHREEGISFSETAAADAALGYIIAFLV
LLSTVKLWHLLRLNPKMNMITAALRRAWGDISGFMIVILTMLLAYSIASNLIFGWKLRSY
KTLFDAAETMVSLQLGIFNYEEVLDYSPVLGSFLIGSCIVFMTFVVLNLFISVILVAFSE
EQKYYQLSEEGEIVDLLLMKILSFLGIKSKREEPGSSREQPGSLSQTRHSRPAQALPKD

Sequence length

2459

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Otosclerosis 4	Likely pathogenic	rs200839960	RCV004585127	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOPHYTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27605020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29703930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	GWASCAT_DG	28468790		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 2	Hypoplastic Left Heart Syndrome	GWASCAT_DG	28468790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	36422197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19578180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	19578180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	29703930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	36422197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	19578180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin a deficiency	Pubtator	32560166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PKD1L2 (polycystin 1 like 2 (gene/pseudogene))