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Q9NZM6 (PK2L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Polycystic kidney disease 2-like 2 protein
Alternative name(s):
Polycystin-2L2
Polycystin-L2
Gene names
Name:PKD2L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length624 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May function as a subunit of a cation channel and play a role in fertilization.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

According to Ref.1, expressed only in testis. According to Ref.2, expressed also in brain and kidney. Isoform 2 is found only in transformed lymphoblasts. Isoform 3 is found in all tissues tested.

Sequence similarities

Belongs to the polycystin family.

Sequence caution

The sequence AAD46478.1 differs from that shown. Reason: Frameshift at position 595.

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 1 (identifier: Q9NZM6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NZM6-2)

Also known as: PKD2L2b;

The sequence of this isoform differs from the canonical sequence as follows:
     11-44: Missing.
     45-45: L → V
Isoform 3 (identifier: Q9NZM6-3)

Also known as: PKD2L2a;

The sequence of this isoform differs from the canonical sequence as follows:
     45-57: LTFGMVNPHMYYL → CYVISIFGHFCAW
     58-624: Missing.
Isoform 4 (identifier: Q9NZM6-4)

Also known as: PKD2L2c;

The sequence of this isoform differs from the canonical sequence as follows:
     12-23: ASKHKLHYRKEV → YVISIFGHFCAW
     24-624: Missing.
Isoform 5 (identifier: Q9NZM6-5)

The sequence of this isoform differs from the canonical sequence as follows:
     595-624: ELFLYAVELEKELHYINLKLNQVVRKVSAL → DGTTTKYKMRFSECLTKRI
Note: No experimental confirmation available.
Isoform 6 (identifier: Q9NZM6-6)

The sequence of this isoform differs from the canonical sequence as follows:
     383-483: Missing.
Note: No experimental confirmation available.
Isoform 7 (identifier: Q9NZM6-7)

The sequence of this isoform differs from the canonical sequence as follows:
     326-347: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 624624Polycystic kidney disease 2-like 2 protein
PRO_0000164361

Regions

Topological domain1 – 3131Cytoplasmic Potential
Transmembrane32 – 5221Helical; Potential
Topological domain53 – 276224Extracellular Potential
Transmembrane277 – 29721Helical; Potential
Topological domain298 – 31417Cytoplasmic Potential
Transmembrane315 – 33521Helical; Potential
Topological domain336 – 36025Extracellular Potential
Transmembrane361 – 38121Helical; Potential
Topological domain382 – 40625Cytoplasmic Potential
Transmembrane407 – 42721Helical; Potential
Topological domain428 – 46942Extracellular Potential
Transmembrane470 – 49021Helical; Potential
Topological domain491 – 624134Cytoplasmic Potential
Coiled coil556 – 57621 Potential
Motif126 – 13813Polycystin motif

Amino acid modifications

Glycosylation1151N-linked (GlcNAc...) Potential
Glycosylation1381N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence11 – 4434Missing in isoform 2.
VSP_004732
Alternative sequence12 – 2312ASKHK…YRKEV → YVISIFGHFCAW in isoform 4.
VSP_004733
Alternative sequence24 – 624601Missing in isoform 4.
VSP_004734
Alternative sequence45 – 5713LTFGM…HMYYL → CYVISIFGHFCAW in isoform 3.
VSP_004736
Alternative sequence451L → V in isoform 2.
VSP_004735
Alternative sequence58 – 624567Missing in isoform 3.
VSP_004737
Alternative sequence326 – 34722Missing in isoform 7.
VSP_045581
Alternative sequence383 – 483101Missing in isoform 6.
VSP_045582
Alternative sequence595 – 62430ELFLY…KVSAL → DGTTTKYKMRFSECLTKRI in isoform 5.
VSP_035775
Natural variant4041V → I. Ref.3
Corresponds to variant rs1880458 [ dbSNP | Ensembl ].
VAR_047542
Natural variant5071L → P. Ref.1 Ref.2 Ref.3 Ref.6
Corresponds to variant rs12187140 [ dbSNP | Ensembl ].
VAR_047543

Experimental info

Sequence conflict205 – 2062Missing in BAG63344. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: 7D9FFA04542A47A4

FASTA62473,790
        10         20         30         40         50         60 
MAEASRWHRG GASKHKLHYR KEVEITTTLQ ELLLYFIFLI NLCILTFGMV NPHMYYLNKV 

        70         80         90        100        110        120 
MSSLFLDTSV PGEERTNFKS IRSITDFWKF MEGPLLEGLY WDSWYNNQQL YNLKNSSRIY 

       130        140        150        160        170        180 
YENILLGVPR VRQLKVRNNT CKVYSSFQSL MSECYGKYTS ANEDLSNFGL QINTEWRYST 

       190        200        210        220        230        240 
SNTNSPWHWG FLGVYRNGGY IFTLSKSKSE TKNKFIDLRL NSWITRGTRV IFIDFSLYNA 

       250        260        270        280        290        300 
NVNLFCIIRL VAEFPATGGI LTSWQFYSVK LLRYVSYYDY FIASCEITFC IFLFVFTTQE 

       310        320        330        340        350        360 
VKKIKEFKSA YFKSIWNWLE LLLLLLCFVA VSFNTYYNVQ IFLLLGQLLK STEKYSDFYF 

       370        380        390        400        410        420 
LACWHIYYNN IIAITIFFAW IKIFKFISFN KTMSQLSSTL SRCVKDIVGF AIMFFIIFFA 

       430        440        450        460        470        480 
YAQLGFLVFG SQVDDFSTFQ NSIFAQFRIV LGDFNFAGIQ QANPILGPIY FITFIFFVFF 

       490        500        510        520        530        540 
VLLNMFLAII NDTYSEVKAD YSIGRRLDFE LGKMIKQSYK NVLEKFRLKK AQKDEDKKTK 

       550        560        570        580        590        600 
GSGDLAEQAR REGFDENEIQ NAEQMKKWKE RLEKKYYSME IQDDYQPVTQ EEFRELFLYA 

       610        620 
VELEKELHYI NLKLNQVVRK VSAL 

« Hide

Isoform 2 (PKD2L2b) [UniParc].

Checksum: BDDE4D9C3C3D7C5F
Show »

FASTA59069,746
Isoform 3 (PKD2L2a) [UniParc].

Checksum: 4539353342C77CAA
Show »

FASTA576,759
Isoform 4 (PKD2L2c) [UniParc].

Checksum: 0C7B55E80C496CC0
Show »

FASTA232,682
Isoform 5 [UniParc].

Checksum: 198CD4B1F9EC9804
Show »

FASTA61372,496
Isoform 6 [UniParc].

Checksum: 9D1CAFED503A7EF6
Show »

FASTA52362,216
Isoform 7 [UniParc].

Checksum: C409FD9113F83EB1
Show »

FASTA60271,255

References

« Hide 'large scale' references
[1]"Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)."
Veldhuisen B., Spruit L., Dauwerse H.G., Breuning M.H., Peters D.J.M.
Eur. J. Hum. Genet. 7:860-872(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), VARIANT PRO-507.
Tissue: Testis.
[2]"Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization."
Guo L., Schreiber T.H., Weremowicz S., Morton C.C., Lee C., Zhou J.
Genomics 64:241-251(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT PRO-507.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7), VARIANTS ILE-404 AND PRO-507.
Tissue: Testis.
[4]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), VARIANT PRO-507.
Tissue: Testis.
[7]"Polycystin channels and kidney disease."
Stayner C., Zhou J.
Trends Pharmacol. Sci. 22:543-546(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF118125 mRNA. Translation: AAD46478.1. Frameshift.
AF182034 mRNA. Translation: AAF65622.1.
AC106753 Genomic DNA. No translation available.
AK301924 mRNA. Translation: BAG63344.1.
AC106791 Genomic DNA. No translation available.
CH471062 Genomic DNA. Translation: EAW62174.1.
BC044581 mRNA. Translation: AAH44581.1.
RefSeqNP_001245377.1. NM_001258448.1.
NP_001245378.1. NM_001258449.1.
NP_055201.2. NM_014386.3.
XP_005272017.1. XM_005271960.2.
UniGeneHs.716884.

3D structure databases

ProteinModelPortalQ9NZM6.
SMRQ9NZM6. Positions 405-502.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117970. 1 interaction.
STRING9606.ENSP00000290431.

PTM databases

PhosphoSiteQ9NZM6.

Polymorphism databases

DMDM317373272.

Proteomic databases

PaxDbQ9NZM6.
PRIDEQ9NZM6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290431; ENSP00000290431; ENSG00000078795. [Q9NZM6-5]
ENST00000350250; ENSP00000344177; ENSG00000078795. [Q9NZM6-2]
ENST00000414094; ENSP00000388060; ENSG00000078795. [Q9NZM6-3]
ENST00000502810; ENSP00000425513; ENSG00000078795. [Q9NZM6-7]
ENST00000508638; ENSP00000423382; ENSG00000078795. [Q9NZM6-6]
ENST00000508883; ENSP00000424725; ENSG00000078795. [Q9NZM6-1]
GeneID27039.
KEGGhsa:27039.
UCSCuc003lbw.1. human. [Q9NZM6-5]
uc003lby.3. human. [Q9NZM6-1]

Organism-specific databases

CTD27039.
GeneCardsGC05P137225.
H-InvDBHIX0024797.
HGNCHGNC:9012. PKD2L2.
HPAHPA041903.
HPA043634.
MIM604669. gene.
neXtProtNX_Q9NZM6.
PharmGKBPA33345.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325704.
HOGENOMHOG000230858.
HOVERGENHBG014945.
InParanoidQ9NZM6.
KOK04991.
OMATSWQFYS.
OrthoDBEOG7N8ZTW.
PhylomeDBQ9NZM6.
TreeFamTF316484.

Gene expression databases

ArrayExpressQ9NZM6.
BgeeQ9NZM6.
CleanExHS_PKD2L2.
GenevestigatorQ9NZM6.

Family and domain databases

InterProIPR013122. PKD1_2_channel.
IPR003915. PKD_2.
[Graphical view]
PfamPF08016. PKD_channel. 1 hit.
[Graphical view]
PRINTSPR01433. POLYCYSTIN2.
ProtoNetSearch...

Other

GeneWikiTRPP3.
GenomeRNAi27039.
NextBio49604.
PROQ9NZM6.
SOURCESearch...

Entry information

Entry namePK2L2_HUMAN
AccessionPrimary (citable) accession number: Q9NZM6
Secondary accession number(s): A6NK98 expand/collapse secondary AC list , B4DXD2, E9PC91, E9PDG4, Q86YB4, Q9UNJ0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM