PK2L2_HUMAN
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 03-AUG-2022, entry version 159.
DE RecName: Full=Polycystic kidney disease 2-like 2 protein;
DE AltName: Full=Polycystin-2L2;
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};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
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.ENSP00000290431; -.
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; Q9NZM6; -.
DR PeptideAtlas; Q9NZM6; -.
DR PRIDE; Q9NZM6; -.
DR ProteomicsDB; 19398; -.
DR ProteomicsDB; 19659; -.
DR ProteomicsDB; 83452; -. [Q9NZM6-1]
DR ProteomicsDB; 83453; -. [Q9NZM6-2]
DR ProteomicsDB; 83454; -. [Q9NZM6-3]
DR ProteomicsDB; 83456; -. [Q9NZM6-5]
DR Antibodypedia; 26539; 102 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 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; FQNSIFT; -.
DR OrthoDB; 426073at2759; -.
DR PhylomeDB; Q9NZM6; -.
DR TreeFam; TF316484; -.
DR PathwayCommons; Q9NZM6; -.
DR SignaLink; Q9NZM6; -.
DR BioGRID-ORCS; 27039; 8 hits in 1063 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 105 other tissues.
DR ExpressionAtlas; Q9NZM6; baseline and differential.
DR Genevisible; Q9NZM6; HS.
DR GO; GO:0016021; C:integral component of membrane; TAS:UniProtKB.
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 InterPro; IPR013122; PKD1_2_channel.
DR InterPro; IPR003915; PKD_2.
DR Pfam; PF08016; PKD_channel; 1.
DR PRINTS; PR01433; POLYCYSTIN2.
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="Polycystic kidney disease 2-like 2 protein"
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
