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Protein

Polycystic kidney disease 2-like 2 protein

Gene

PKD2L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Polycystic kidney disease 2-like 2 protein
Alternative name(s):
Polycystin-2L2
Polycystin-L2
Gene namesi
Name:PKD2L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000078795.16
HGNCiHGNC:9012 PKD2L2
MIMi604669 gene
neXtProtiNX_Q9NZM6

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 31CytoplasmicSequence analysisAdd BLAST31
Transmembranei32 – 52HelicalSequence analysisAdd BLAST21
Topological domaini53 – 276ExtracellularSequence analysisAdd BLAST224
Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
Topological domaini298 – 314CytoplasmicSequence analysisAdd BLAST17
Transmembranei315 – 335HelicalSequence analysisAdd BLAST21
Topological domaini336 – 360ExtracellularSequence analysisAdd BLAST25
Transmembranei361 – 381HelicalSequence analysisAdd BLAST21
Topological domaini382 – 406CytoplasmicSequence analysisAdd BLAST25
Transmembranei407 – 427HelicalSequence analysisAdd BLAST21
Topological domaini428 – 469ExtracellularSequence analysisAdd BLAST42
Transmembranei470 – 490HelicalSequence analysisAdd BLAST21
Topological domaini491 – 624CytoplasmicSequence analysisAdd BLAST134

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000078795
PharmGKBiPA33345

Polymorphism and mutation databases

BioMutaiPKD2L2
DMDMi317373272

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001643611 – 624Polycystic kidney disease 2-like 2 proteinAdd BLAST624

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi115N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NZM6
PeptideAtlasiQ9NZM6
PRIDEiQ9NZM6
ProteomicsDBi83452
83453 [Q9NZM6-2]
83454 [Q9NZM6-3]
83455 [Q9NZM6-4]
83456 [Q9NZM6-5]

PTM databases

iPTMnetiQ9NZM6
PhosphoSitePlusiQ9NZM6

Expressioni

Tissue specificityi

According to PubMed:10602361, expressed only in testis. According to PubMed:10756092, expressed also in brain and kidney. Isoform 2 is found only in transformed lymphoblasts. Isoform 3 is found in all tissues tested.

Gene expression databases

BgeeiENSG00000078795 Expressed in 101 organ(s), highest expression level in tendon
CleanExiHS_PKD2L2
ExpressionAtlasiQ9NZM6 baseline and differential
GenevisibleiQ9NZM6 HS

Organism-specific databases

HPAiHPA041903
HPA043634

Interactioni

Protein-protein interaction databases

BioGridi117970, 5 interactors
STRINGi9606.ENSP00000290431

Structurei

3D structure databases

ProteinModelPortaliQ9NZM6
SMRiQ9NZM6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili556 – 576Sequence analysisAdd BLAST21

Sequence similaritiesi

Belongs to the polycystin family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3599 Eukaryota
ENOG410XTGE LUCA
GeneTreeiENSGT00700000104221
HOGENOMiHOG000230858
HOVERGENiHBG014945
InParanoidiQ9NZM6
KOiK04991
OMAiEFKSAYF
OrthoDBiEOG091G034F
PhylomeDBiQ9NZM6
TreeFamiTF316484

Family and domain databases

InterProiView protein in InterPro
IPR013122 PKD1_2_channel
IPR003915 PKD_2
PfamiView protein in Pfam
PF08016 PKD_channel, 1 hit
PRINTSiPR01433 POLYCYSTIN2

Sequences (7+)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZM6-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MAEASRWHRG GASKHKLHYR KEVEITTTLQ ELLLYFIFLI NLCILTFGMV
60 70 80 90 100
NPHMYYLNKV MSSLFLDTSV PGEERTNFKS IRSITDFWKF MEGPLLEGLY
110 120 130 140 150
WDSWYNNQQL YNLKNSSRIY YENILLGVPR VRQLKVRNNT CKVYSSFQSL
160 170 180 190 200
MSECYGKYTS ANEDLSNFGL QINTEWRYST SNTNSPWHWG FLGVYRNGGY
210 220 230 240 250
IFTLSKSKSE TKNKFIDLRL NSWITRGTRV IFIDFSLYNA NVNLFCIIRL
260 270 280 290 300
VAEFPATGGI LTSWQFYSVK LLRYVSYYDY FIASCEITFC IFLFVFTTQE
310 320 330 340 350
VKKIKEFKSA YFKSIWNWLE LLLLLLCFVA VSFNTYYNVQ IFLLLGQLLK
360 370 380 390 400
STEKYSDFYF LACWHIYYNN IIAITIFFAW IKIFKFISFN KTMSQLSSTL
410 420 430 440 450
SRCVKDIVGF AIMFFIIFFA YAQLGFLVFG SQVDDFSTFQ NSIFAQFRIV
460 470 480 490 500
LGDFNFAGIQ QANPILGPIY FITFIFFVFF VLLNMFLAII NDTYSEVKAD
510 520 530 540 550
YSIGRRLDFE LGKMIKQSYK NVLEKFRLKK AQKDEDKKTK GSGDLAEQAR
560 570 580 590 600
REGFDENEIQ NAEQMKKWKE RLEKKYYSME IQDDYQPVTQ EEFRELFLYA
610 620
VELEKELHYI NLKLNQVVRK VSAL
Length:624
Mass (Da):73,790
Last modified:January 11, 2011 - v2
Checksum:i7D9FFA04542A47A4
GO
Isoform 2 (identifier: Q9NZM6-2) [UniParc]FASTAAdd to basket
Also known as: PKD2L2b

The sequence of this isoform differs from the canonical sequence as follows:
     11-44: Missing.
     45-45: L → V

Show »
Length:590
Mass (Da):69,746
Checksum:iBDDE4D9C3C3D7C5F
GO
Isoform 3 (identifier: Q9NZM6-3) [UniParc]FASTAAdd to basket
Also known as: PKD2L2a

The sequence of this isoform differs from the canonical sequence as follows:
     45-57: LTFGMVNPHMYYL → CYVISIFGHFCAW
     58-624: Missing.

Show »
Length:57
Mass (Da):6,759
Checksum:i4539353342C77CAA
GO
Isoform 4 (identifier: Q9NZM6-4) [UniParc]FASTAAdd to basket
Also known as: PKD2L2c

The sequence of this isoform differs from the canonical sequence as follows:
     12-23: ASKHKLHYRKEV → YVISIFGHFCAW
     24-624: Missing.

Show »
Length:23
Mass (Da):2,682
Checksum:i0C7B55E80C496CC0
GO
Isoform 5 (identifier: Q9NZM6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     595-624: ELFLYAVELEKELHYINLKLNQVVRKVSAL → DGTTTKYKMRFSECLTKRI

Note: No experimental confirmation available.
Show »
Length:613
Mass (Da):72,496
Checksum:i198CD4B1F9EC9804
GO
Isoform 6 (identifier: Q9NZM6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     383-483: Missing.

Note: No experimental confirmation available.
Show »
Length:523
Mass (Da):62,216
Checksum:i9D1CAFED503A7EF6
GO
Isoform 7 (identifier: Q9NZM6-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     326-347: Missing.

Note: No experimental confirmation available.
Show »
Length:602
Mass (Da):71,255
Checksum:iC409FD9113F83EB1
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RF71D6RF71_HUMAN
Polycystic kidney disease 2-like 2 ...
PKD2L2
182Annotation score:
D6RBX8D6RBX8_HUMAN
Polycystic kidney disease 2-like 2 ...
PKD2L2
84Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti205 – 206Missing in BAG63344 (PubMed:14702039).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047542404V → I1 PublicationCorresponds to variant dbSNP:rs1880458Ensembl.1
Natural variantiVAR_047543507L → P4 PublicationsCorresponds to variant dbSNP:rs12187140Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00473211 – 44Missing in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_00473312 – 23ASKHK…YRKEV → YVISIFGHFCAW in isoform 4. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_00473424 – 624Missing in isoform 4. 1 PublicationAdd BLAST601
Alternative sequenceiVSP_00473645 – 57LTFGM…HMYYL → CYVISIFGHFCAW in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_00473545L → V in isoform 2. 1 Publication1
Alternative sequenceiVSP_00473758 – 624Missing in isoform 3. 1 PublicationAdd BLAST567
Alternative sequenceiVSP_045581326 – 347Missing in isoform 7. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_045582383 – 483Missing in isoform 6. 1 PublicationAdd BLAST101
Alternative sequenceiVSP_035775595 – 624ELFLY…KVSAL → DGTTTKYKMRFSECLTKRI in isoform 5. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS43367.1 [Q9NZM6-5]
CCDS58971.1 [Q9NZM6-6]
CCDS58972.1 [Q9NZM6-7]
CCDS78062.1 [Q9NZM6-1]
RefSeqiNP_001245377.1, NM_001258448.1 [Q9NZM6-7]
NP_001245378.1, NM_001258449.1 [Q9NZM6-6]
NP_001287850.1, NM_001300921.1 [Q9NZM6-1]
NP_055201.2, NM_014386.3 [Q9NZM6-5]
XP_011541620.1, XM_011543318.2 [Q9NZM6-2]
UniGeneiHs.716884

Genome annotation databases

EnsembliENST00000290431; ENSP00000290431; ENSG00000078795 [Q9NZM6-5]
ENST00000414094; ENSP00000388060; ENSG00000078795 [Q9NZM6-3]
ENST00000502810; ENSP00000425513; ENSG00000078795 [Q9NZM6-7]
ENST00000508638; ENSP00000423382; ENSG00000078795 [Q9NZM6-6]
ENST00000508883; ENSP00000424725; ENSG00000078795 [Q9NZM6-1]
GeneIDi27039
KEGGihsa:27039
UCSCiuc003lbw.2 human [Q9NZM6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS43367.1 [Q9NZM6-5]
CCDS58971.1 [Q9NZM6-6]
CCDS58972.1 [Q9NZM6-7]
CCDS78062.1 [Q9NZM6-1]
RefSeqiNP_001245377.1, NM_001258448.1 [Q9NZM6-7]
NP_001245378.1, NM_001258449.1 [Q9NZM6-6]
NP_001287850.1, NM_001300921.1 [Q9NZM6-1]
NP_055201.2, NM_014386.3 [Q9NZM6-5]
XP_011541620.1, XM_011543318.2 [Q9NZM6-2]
UniGeneiHs.716884

3D structure databases

ProteinModelPortaliQ9NZM6
SMRiQ9NZM6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117970, 5 interactors
STRINGi9606.ENSP00000290431

PTM databases

iPTMnetiQ9NZM6
PhosphoSitePlusiQ9NZM6

Polymorphism and mutation databases

BioMutaiPKD2L2
DMDMi317373272

Proteomic databases

PaxDbiQ9NZM6
PeptideAtlasiQ9NZM6
PRIDEiQ9NZM6
ProteomicsDBi83452
83453 [Q9NZM6-2]
83454 [Q9NZM6-3]
83455 [Q9NZM6-4]
83456 [Q9NZM6-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290431; ENSP00000290431; ENSG00000078795 [Q9NZM6-5]
ENST00000414094; ENSP00000388060; ENSG00000078795 [Q9NZM6-3]
ENST00000502810; ENSP00000425513; ENSG00000078795 [Q9NZM6-7]
ENST00000508638; ENSP00000423382; ENSG00000078795 [Q9NZM6-6]
ENST00000508883; ENSP00000424725; ENSG00000078795 [Q9NZM6-1]
GeneIDi27039
KEGGihsa:27039
UCSCiuc003lbw.2 human [Q9NZM6-1]

Organism-specific databases

CTDi27039
EuPathDBiHostDB:ENSG00000078795.16
GeneCardsiPKD2L2
H-InvDBiHIX0024797
HGNCiHGNC:9012 PKD2L2
HPAiHPA041903
HPA043634
MIMi604669 gene
neXtProtiNX_Q9NZM6
OpenTargetsiENSG00000078795
PharmGKBiPA33345
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3599 Eukaryota
ENOG410XTGE LUCA
GeneTreeiENSGT00700000104221
HOGENOMiHOG000230858
HOVERGENiHBG014945
InParanoidiQ9NZM6
KOiK04991
OMAiEFKSAYF
OrthoDBiEOG091G034F
PhylomeDBiQ9NZM6
TreeFamiTF316484

Miscellaneous databases

GeneWikiiTRPP3
GenomeRNAii27039
PROiPR:Q9NZM6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000078795 Expressed in 101 organ(s), highest expression level in tendon
CleanExiHS_PKD2L2
ExpressionAtlasiQ9NZM6 baseline and differential
GenevisibleiQ9NZM6 HS

Family and domain databases

InterProiView protein in InterPro
IPR013122 PKD1_2_channel
IPR003915 PKD_2
PfamiView protein in Pfam
PF08016 PKD_channel, 1 hit
PRINTSiPR01433 POLYCYSTIN2
ProtoNetiSearch...

Entry informationi

Entry nameiPK2L2_HUMAN
AccessioniPrimary (citable) accession number: Q9NZM6
Secondary accession number(s): A6NK98
, B4DXD2, E9PC91, E9PDG4, Q86YB4, Q9UNJ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: January 11, 2011
Last modified: September 12, 2018
This is version 138 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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