ID   PK2L2_HUMAN             Reviewed;         624 AA.
AC   Q9NZM6; A6NK98; B4DXD2; E9PC91; E9PDG4; Q86YB4; Q9UNJ0;
DT   10-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT   11-JAN-2011, sequence version 2.
DT   24-JAN-2024, entry version 166.
DE   RecName: Full=Polycystin-2-like protein 2;
DE            Short=Polycystin-2L2;
DE   AltName: Full=Polycystic kidney disease 2-like 2 protein;
DE   AltName: Full=Polycystin-L2;
GN   Name=PKD2L2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), AND VARIANT PRO-507.
RC   TISSUE=Testis;
RX   PubMed=10602361; DOI=10.1038/sj.ejhg.5200383;
RA   Veldhuisen B., Spruit L., Dauwerse H.G., Breuning M.H., Peters D.J.M.;
RT   "Genes homologous to the autosomal dominant polycystic kidney disease genes
RT   (PKD1 and PKD2).";
RL   Eur. J. Hum. Genet. 7:860-872(1999).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), AND VARIANT PRO-507.
RX   PubMed=10756092; DOI=10.1006/geno.2000.6131;
RA   Guo L., Schreiber T.H., Weremowicz S., Morton C.C., Lee C., Zhou J.;
RT   "Identification and characterization of a novel polycystin family member,
RT   polycystin-L2, in mouse and human: sequence, expression, alternative
RT   splicing, and chromosomal localization.";
RL   Genomics 64:241-251(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7), AND VARIANTS ILE-404
RP   AND PRO-507.
RC   TISSUE=Testis;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15372022; DOI=10.1038/nature02919;
RA   Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA   Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA   She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA   Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA   Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA   Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA   Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA   Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA   Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA   Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA   Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA   Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA   Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT   "The DNA sequence and comparative analysis of human chromosome 5.";
RL   Nature 431:268-274(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), AND VARIANT PRO-507.
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [7]
RP   REVIEW.
RX   PubMed=11698076; DOI=10.1016/s0165-6147(00)01832-0;
RA   Stayner C., Zhou J.;
RT   "Polycystin channels and kidney disease.";
RL   Trends Pharmacol. Sci. 22:543-546(2001).
CC   -!- FUNCTION: May function as a subunit of a cation channel and play a role
CC       in fertilization.
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=7;
CC         Comment=Experimental confirmation may be lacking for some isoforms.;
CC       Name=1;
CC         IsoId=Q9NZM6-1; Sequence=Displayed;
CC       Name=2; Synonyms=PKD2L2b;
CC         IsoId=Q9NZM6-2; Sequence=VSP_004732, VSP_004735;
CC       Name=3; Synonyms=PKD2L2a;
CC         IsoId=Q9NZM6-3; Sequence=VSP_004736, VSP_004737;
CC       Name=4; Synonyms=PKD2L2c;
CC         IsoId=Q9NZM6-4; Sequence=VSP_004733, VSP_004734;
CC       Name=5;
CC         IsoId=Q9NZM6-5; Sequence=VSP_035775;
CC       Name=6;
CC         IsoId=Q9NZM6-6; Sequence=VSP_045582;
CC       Name=7;
CC         IsoId=Q9NZM6-7; Sequence=VSP_045581;
CC   -!- TISSUE SPECIFICITY: According to PubMed:10602361, expressed only in
CC       testis. According to PubMed:10756092, expressed also in brain and
CC       kidney. Isoform 2 is found only in transformed lymphoblasts. Isoform 3
CC       is found in all tissues tested.
CC   -!- SIMILARITY: Belongs to the polycystin family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAD46478.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AF118125; AAD46478.1; ALT_FRAME; mRNA.
DR   EMBL; AF182034; AAF65622.1; -; mRNA.
DR   EMBL; AC106753; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AK301924; BAG63344.1; -; mRNA.
DR   EMBL; AC106791; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471062; EAW62174.1; -; Genomic_DNA.
DR   EMBL; BC044581; AAH44581.1; -; mRNA.
DR   CCDS; CCDS43367.1; -. [Q9NZM6-5]
DR   CCDS; CCDS58971.1; -. [Q9NZM6-6]
DR   CCDS; CCDS58972.1; -. [Q9NZM6-7]
DR   CCDS; CCDS78062.1; -. [Q9NZM6-1]
DR   RefSeq; NP_001245377.1; NM_001258448.1. [Q9NZM6-7]
DR   RefSeq; NP_001245378.1; NM_001258449.1. [Q9NZM6-6]
DR   RefSeq; NP_001287850.1; NM_001300921.1. [Q9NZM6-1]
DR   RefSeq; NP_055201.2; NM_014386.3. [Q9NZM6-5]
DR   RefSeq; XP_011541620.1; XM_011543318.2. [Q9NZM6-2]
DR   AlphaFoldDB; Q9NZM6; -.
DR   SMR; Q9NZM6; -.
DR   BioGRID; 117970; 10.
DR   IntAct; Q9NZM6; 5.
DR   STRING; 9606.ENSP00000424725; -.
DR   GlyCosmos; Q9NZM6; 2 sites, No reported glycans.
DR   GlyGen; Q9NZM6; 2 sites.
DR   iPTMnet; Q9NZM6; -.
DR   PhosphoSitePlus; Q9NZM6; -.
DR   BioMuta; PKD2L2; -.
DR   DMDM; 317373272; -.
DR   jPOST; Q9NZM6; -.
DR   MassIVE; Q9NZM6; -.
DR   PaxDb; 9606-ENSP00000290431; -.
DR   PeptideAtlas; Q9NZM6; -.
DR   ProteomicsDB; 19398; -.
DR   ProteomicsDB; 19659; -.
DR   ProteomicsDB; 83452; -. [Q9NZM6-1]
DR   ProteomicsDB; 83454; -. [Q9NZM6-3]
DR   ProteomicsDB; 83456; -. [Q9NZM6-5]
DR   Antibodypedia; 26539; 105 antibodies from 18 providers.
DR   DNASU; 27039; -.
DR   Ensembl; ENST00000290431.5; ENSP00000290431.5; ENSG00000078795.17. [Q9NZM6-5]
DR   Ensembl; ENST00000414094.6; ENSP00000388060.2; ENSG00000078795.17. [Q9NZM6-3]
DR   Ensembl; ENST00000502810.5; ENSP00000425513.1; ENSG00000078795.17. [Q9NZM6-7]
DR   Ensembl; ENST00000508638.5; ENSP00000423382.1; ENSG00000078795.17. [Q9NZM6-6]
DR   Ensembl; ENST00000508883.6; ENSP00000424725.1; ENSG00000078795.17. [Q9NZM6-1]
DR   GeneID; 27039; -.
DR   KEGG; hsa:27039; -.
DR   MANE-Select; ENST00000508883.6; ENSP00000424725.1; NM_001300921.2; NP_001287850.1.
DR   UCSC; uc003lbw.2; human. [Q9NZM6-1]
DR   AGR; HGNC:9012; -.
DR   CTD; 27039; -.
DR   DisGeNET; 27039; -.
DR   GeneCards; PKD2L2; -.
DR   HGNC; HGNC:9012; PKD2L2.
DR   HPA; ENSG00000078795; Tissue enhanced (testis).
DR   MIM; 604669; gene.
DR   neXtProt; NX_Q9NZM6; -.
DR   OpenTargets; ENSG00000078795; -.
DR   PharmGKB; PA33345; -.
DR   VEuPathDB; HostDB:ENSG00000078795; -.
DR   eggNOG; KOG3599; Eukaryota.
DR   GeneTree; ENSGT00940000161122; -.
DR   HOGENOM; CLU_2995942_0_0_1; -.
DR   InParanoid; Q9NZM6; -.
DR   OMA; VNTDMYY; -.
DR   OrthoDB; 56358at2759; -.
DR   PhylomeDB; Q9NZM6; -.
DR   TreeFam; TF316484; -.
DR   PathwayCommons; Q9NZM6; -.
DR   SignaLink; Q9NZM6; -.
DR   BioGRID-ORCS; 27039; 8 hits in 1141 CRISPR screens.
DR   GeneWiki; TRPP3; -.
DR   GenomeRNAi; 27039; -.
DR   Pharos; Q9NZM6; Tbio.
DR   PRO; PR:Q9NZM6; -.
DR   Proteomes; UP000005640; Chromosome 5.
DR   RNAct; Q9NZM6; Protein.
DR   Bgee; ENSG00000078795; Expressed in tendon of biceps brachii and 107 other cell types or tissues.
DR   ExpressionAtlas; Q9NZM6; baseline and differential.
DR   GO; GO:0016020; C:membrane; IBA:GO_Central.
DR   GO; GO:0005262; F:calcium channel activity; IBA:GO_Central.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0050982; P:detection of mechanical stimulus; IBA:GO_Central.
DR   Gene3D; 1.10.287.70; -; 1.
DR   InterPro; IPR013122; PKD1_2_channel.
DR   InterPro; IPR003915; PKD_2.
DR   InterPro; IPR046791; Polycystin_dom.
DR   PANTHER; PTHR10877:SF47; POLYCYSTIC KIDNEY DISEASE 2-LIKE 2 PROTEIN; 1.
DR   PANTHER; PTHR10877; POLYCYSTIN FAMILY MEMBER; 1.
DR   Pfam; PF08016; PKD_channel; 1.
DR   Pfam; PF20519; Polycystin_dom; 1.
DR   PRINTS; PR01433; POLYCYSTIN2.
DR   Genevisible; Q9NZM6; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Coiled coil; Glycoprotein; Ion channel;
KW   Ion transport; Membrane; Reference proteome; Transmembrane;
KW   Transmembrane helix; Transport.
FT   CHAIN           1..624
FT                   /note="Polycystin-2-like protein 2"
FT                   /id="PRO_0000164361"
FT   TOPO_DOM        1..31
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        32..52
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        53..276
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        277..297
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        298..314
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        315..335
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        336..360
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        361..381
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        382..406
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        407..427
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        428..469
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        470..490
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        491..624
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   COILED          556..576
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        115
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        138
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         11..44
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10756092"
FT                   /id="VSP_004732"
FT   VAR_SEQ         12..23
FT                   /note="ASKHKLHYRKEV -> YVISIFGHFCAW (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:10756092"
FT                   /id="VSP_004733"
FT   VAR_SEQ         24..624
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:10756092"
FT                   /id="VSP_004734"
FT   VAR_SEQ         45..57
FT                   /note="LTFGMVNPHMYYL -> CYVISIFGHFCAW (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:10756092"
FT                   /id="VSP_004736"
FT   VAR_SEQ         45
FT                   /note="L -> V (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10756092"
FT                   /id="VSP_004735"
FT   VAR_SEQ         58..624
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:10756092"
FT                   /id="VSP_004737"
FT   VAR_SEQ         326..347
FT                   /note="Missing (in isoform 7)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_045581"
FT   VAR_SEQ         383..483
FT                   /note="Missing (in isoform 6)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_045582"
FT   VAR_SEQ         595..624
FT                   /note="ELFLYAVELEKELHYINLKLNQVVRKVSAL -> DGTTTKYKMRFSECLTKR
FT                   I (in isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:10602361"
FT                   /id="VSP_035775"
FT   VARIANT         404
FT                   /note="V -> I (in dbSNP:rs1880458)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_047542"
FT   VARIANT         507
FT                   /note="L -> P (in dbSNP:rs12187140)"
FT                   /evidence="ECO:0000269|PubMed:10602361,
FT                   ECO:0000269|PubMed:10756092, ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334"
FT                   /id="VAR_047543"
FT   CONFLICT        205..206
FT                   /note="Missing (in Ref. 3; BAG63344)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   624 AA;  73790 MW;  7D9FFA04542A47A4 CRC64;
     MAEASRWHRG GASKHKLHYR KEVEITTTLQ ELLLYFIFLI NLCILTFGMV NPHMYYLNKV
     MSSLFLDTSV PGEERTNFKS IRSITDFWKF MEGPLLEGLY WDSWYNNQQL YNLKNSSRIY
     YENILLGVPR VRQLKVRNNT CKVYSSFQSL MSECYGKYTS ANEDLSNFGL QINTEWRYST
     SNTNSPWHWG FLGVYRNGGY IFTLSKSKSE TKNKFIDLRL NSWITRGTRV IFIDFSLYNA
     NVNLFCIIRL VAEFPATGGI LTSWQFYSVK LLRYVSYYDY FIASCEITFC IFLFVFTTQE
     VKKIKEFKSA YFKSIWNWLE LLLLLLCFVA VSFNTYYNVQ IFLLLGQLLK STEKYSDFYF
     LACWHIYYNN IIAITIFFAW IKIFKFISFN KTMSQLSSTL SRCVKDIVGF AIMFFIIFFA
     YAQLGFLVFG SQVDDFSTFQ NSIFAQFRIV LGDFNFAGIQ QANPILGPIY FITFIFFVFF
     VLLNMFLAII NDTYSEVKAD YSIGRRLDFE LGKMIKQSYK NVLEKFRLKK AQKDEDKKTK
     GSGDLAEQAR REGFDENEIQ NAEQMKKWKE RLEKKYYSME IQDDYQPVTQ EEFRELFLYA
     VELEKELHYI NLKLNQVVRK VSAL
//