• Gene id: 114780

Gene Summary

• Gene Symbol: PKD1L2   Gene   UCSC   Ensembl
• Aliases: PC1L2
• Gene name: polycystin 1 like 2 (gene/pseudogene)
• Alternate names: polycystic kidney disease protein 1-like 2, PC1-like 2 protein, polycystic kidney disease 1-like 2, polycystin-1L2,
• Gene location: 16q23.2 (81220393: 81100874)     Exons: 44     NC_000016.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q7Z442  
  • Name: Polycystic kidney disease protein 1 like 2 (PC1 like 2 protein) (Polycystin 1L2)
  • Length: 2459  
  • Mass: 272514
  • 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
• Sequence:

  MSAVGLVLLVLALRLRATTVKPEEGSFCSNSQVAFRDACYEFVPLGRTFRDAQSWCEGQGGHLVFIQDEGTQWFL
  QKHISQDREWWIGLTWNLARNGTTEGPGTWLDTSNVTYSNWHGGQAAAAPDTCGHIGRGPSSEWVTSDCAQTFAF
  MCEFRVGQSLACEGLNATVHCGLGQVIQVQDAVYGRQNPHFCTQDAGRPSDLEQGCSWANVKEEVAGQCQELQSC
  QVAADETYFGNLCPTQGSYLWVQYQCREALQLMVSSESFIFDNVTISLTWLLSPYIGNLSCIISTGDSHTFDPYN
  PPSVSSNVTHQFTSPGEFTVFAECTTSEWHVTAQRQVTVRDKMETLSVTACSGLSQSGAGPLCQAVFGDPLWIQV
  ELDGGTGVTYTVLLGDITLAESTTQKGSLPYNLILDRETQKLMGPGRHRLEIQATGNTTTSTISRNITVHLVELL
  SGLQASWASDHLELGQDLLITISLAQGTPEELTFEVAGLNATFSHEQVSFGEPFGICRLAVPVEGTFLVTMLVRN
  AFSNLSLEIGNITITAPSGLQEPSGMNAEGKSKDKGDMEVYIQPGPYVDPFTTVTLGWPDNDKELRFQWSCGSCW
  ALWSSCVERQLLRTDQRELVVPASCLPPPDSAVTLRLAVLRGQELENRAEQCLYVSAPWELRPRVSCERNCRPVN
  ASKDILLRVTMGEDSPVAMFSWYLDNTPTEQAEPLLDACRLRGFWPRSLTLLQSNTSTLLLNSSFLQSRGEVIRI
  RATALTRHAYGEDTYVISTVPPREVPACTIAPEEGTVLTSFAIFCNASTALGPLEFCFCLESGSCLHCGPEPALP
  SVYLPLGEENNDFVLTVVISATNRAGDTQQTQAMAKVALGDTCVEDVAFQAAVSEKIPTALQGEGGPEQLLQLAK
  AVSSMLNQEHESQGSGQSLSIDVRQKVREHVLGSLSAVTTGLEDVQRVQELAEVLREVTCRSKELTPSAQWEASL
  ALQHASEALLTVSAKARPEDQRRQAATRDLFQAVGSVLEASLSNRPEEPAEASSSQIATVLRLLRVMEHVQTTLL
  LGKLPGGLPAMLATPSISVYTNRIQPWSWQGSSLRPDAADSATFMLPAASSLSSLEGGQEPVDIKIMSFPKSPFP
  ARSHFDVSGTVGGLRVTSPSGQLIPVKNLSENIEILLPRHSQRHSQPTVLNLTSPEALWVNVTSGEATLGIQLHW
  RPDIALTLSLGYGYHPNKSSYDAQTHLVPMVAPDELPTWILSPQDLRFGEGVYYLTVVPESDLEPAPGRDLTVGI
  TTFLSHCVFWDEVQETWDDSGCQVGPRTSPYQTHCLCNHLTFFGSTFLVMSNAINIHQTAELFATFEDNPVVVTT
  VGCLCVVYVLVVIWARRKDAQDQAKVKVTVLEDNDPFAQYHYLVTVYTGHRRGAATSSKVTVTLYGLDGEREPHH
  LADPDTPVFERGAVDAFLLSTLFPLGELRSLRLWHDNSGDRPSWYVSRVLVYDLVMDRKWYFLCNSWLSINVGDC
  VLDKVFPVATEQDRKQFSHLFFMKTSAGFQDGHIWYSIFSRCARSSFTRVQRVSCCFSLLLCTMLTSIMFWGVPK
  DPAEQKMDLGKIEFTWQEVMIGLESSILMFPINLLIVQIFQNTRPRVAKEQNTGKWDRGSPNLTPSPQPMEDGLL
  TPEAVTKDVSRIVSSLFKALKVPSPALGWDSVNLMDINSLLALVEDVIYPQNTSGQVFWEEAKKREDPVTLTLGS
  SEMKEKSQCPKPKAARSGPWKDSAYRQCLYLQLEHVEQELRLVGPRGFSQPHSHAQALRQLQTLKGGLGVQPGTW
  APAHASALQVSKPPQGLPWWCILVGWLLVAATSGVAAFFTMLYGLHYGRASSLRWLISMAVSFVESMFVTQPLKV
  LGFAAFFALVLKRVDDEEDTVAPLPGHLLGPDPYALFRARRNSSRDVYQPPLTAAIEKMKTTHLKEQKAFALIRE
  ILAYLGFLWMLLLVAYGQRDPSAYHLNRHLQHSFTRGFSGVLGFREFFKWANTTLVSNLYGHPPGFITDGNSKLV
  GSAQIRQVRVQESSCPLAQQPQAYLNGCRAPYSLDAEDMADYGEGWNATTLSEWQYQSQDQRQGYPIWGKLTVYR
  GGGYVVPLGTDRQSTSRILRYLFDNTWLDALTRAVFVESTVYNANVNLFCIVTLTLETSALGTFFTHAALQSLRL
  YPFTDGWHPFVVAAELIYFLFLLYYMVVQGKRMSKETWGYFCSKWNLLELAIILASWSALAVFVKRAVLAERDLQ
  RCRNHREEGISFSETAAADAALGYIIAFLVLLSTVKLWHLLRLNPKMNMITAALRRAWGDISGFMIVILTMLLAY
  SIASNLIFGWKLRSYKTLFDAAETMVSLQLGIFNYEEVLDYSPVLGSFLIGSCIVFMTFVVLNLFISVILVAFSE
  EQKYYQLSEEGEIVDLLLMKILSFLGIKSKREEPGSSREQPGSLSQTRHSRPAQALPKD

• Structural information:
  • Protein Domains: (35..15-)
    (/note="C-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00040-)
    (161..25-)
    (/note="SUEL-type-lectin)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00260-)
    (422..112-)
    (/note="REJ-)
    (/evidence="ECO:0000255|PROSITE-ProRu-)
  • Interpro: IPR001304  IPR016186  IPR016187  IPR000203  IPR000922   IPR002859  IPR013122  IPR003915  IPR001024  IPR036392  IPR042060  IPR014010  
  • Prosite: PS50041 PS50221 PS50095 PS51111 PS50228
  • CDD: cd01752
  • STRING: ENSP00000485172
• Other Databases: GeneCards:  PKD1L2  Malacards:  PKD1L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005262	calcium channel activity	IBA	molecular function
GO:0050982	detection of mechanical stimulus	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq