Seroatlas · Human Serome Atlas

PKD1L2

Polycystin-1-like protein 2

Also known as: KIAA1879, PK1L2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7Z442
Gene: PKD1L2
Ensembl: ENSG00000166473
Chromosome: 16
Canonical length: 2459 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

2459 residues, UniProt reviewed canonical sequence.

>Q7Z442|PKD1L2
     1  MSAVGLVLLV LALRLRATTV KPEEGSFCSN SQVAFRDACY EFVPLGRTFR DAQSWCEGQG
    61  GHLVFIQDEG TQWFLQKHIS QDREWWIGLT WNLARNGTTE GPGTWLDTSN VTYSNWHGGQ
   121  AAAAPDTCGH IGRGPSSEWV TSDCAQTFAF MCEFRVGQSL ACEGLNATVH CGLGQVIQVQ
   181  DAVYGRQNPH FCTQDAGRPS DLEQGCSWAN VKEEVAGQCQ ELQSCQVAAD ETYFGNLCPT
   241  QGSYLWVQYQ CREALQLMVS SESFIFDNVT ISLTWLLSPY IGNLSCIIST GDSHTFDPYN
   301  PPSVSSNVTH QFTSPGEFTV FAECTTSEWH VTAQRQVTVR DKMETLSVTA CSGLSQSGAG
   361  PLCQAVFGDP LWIQVELDGG TGVTYTVLLG DITLAESTTQ KGSLPYNLIL DRETQKLMGP
   421  GRHRLEIQAT GNTTTSTISR NITVHLVELL SGLQASWASD HLELGQDLLI TISLAQGTPE
   481  ELTFEVAGLN ATFSHEQVSF GEPFGICRLA VPVEGTFLVT MLVRNAFSNL SLEIGNITIT
   541  APSGLQEPSG MNAEGKSKDK GDMEVYIQPG PYVDPFTTVT LGWPDNDKEL RFQWSCGSCW
   601  ALWSSCVERQ LLRTDQRELV VPASCLPPPD SAVTLRLAVL RGQELENRAE QCLYVSAPWE
   661  LRPRVSCERN CRPVNASKDI LLRVTMGEDS PVAMFSWYLD NTPTEQAEPL LDACRLRGFW
   721  PRSLTLLQSN TSTLLLNSSF LQSRGEVIRI RATALTRHAY GEDTYVISTV PPREVPACTI
   781  APEEGTVLTS FAIFCNASTA LGPLEFCFCL ESGSCLHCGP EPALPSVYLP LGEENNDFVL
   841  TVVISATNRA GDTQQTQAMA KVALGDTCVE DVAFQAAVSE KIPTALQGEG GPEQLLQLAK
   901  AVSSMLNQEH ESQGSGQSLS IDVRQKVREH VLGSLSAVTT GLEDVQRVQE LAEVLREVTC
   961  RSKELTPSAQ WEASLALQHA SEALLTVSAK ARPEDQRRQA ATRDLFQAVG SVLEASLSNR
  1021  PEEPAEASSS QIATVLRLLR VMEHVQTTLL LGKLPGGLPA MLATPSISVY TNRIQPWSWQ
  1081  GSSLRPDAAD SATFMLPAAS SLSSLEGGQE PVDIKIMSFP KSPFPARSHF DVSGTVGGLR
  1141  VTSPSGQLIP VKNLSENIEI LLPRHSQRHS QPTVLNLTSP EALWVNVTSG EATLGIQLHW
  1201  RPDIALTLSL GYGYHPNKSS YDAQTHLVPM VAPDELPTWI LSPQDLRFGE GVYYLTVVPE
  1261  SDLEPAPGRD LTVGITTFLS HCVFWDEVQE TWDDSGCQVG PRTSPYQTHC LCNHLTFFGS
  1321  TFLVMSNAIN IHQTAELFAT FEDNPVVVTT VGCLCVVYVL VVIWARRKDA QDQAKVKVTV
  1381  LEDNDPFAQY HYLVTVYTGH RRGAATSSKV TVTLYGLDGE REPHHLADPD TPVFERGAVD
  1441  AFLLSTLFPL GELRSLRLWH DNSGDRPSWY VSRVLVYDLV MDRKWYFLCN SWLSINVGDC
  1501  VLDKVFPVAT EQDRKQFSHL FFMKTSAGFQ DGHIWYSIFS RCARSSFTRV QRVSCCFSLL
  1561  LCTMLTSIMF WGVPKDPAEQ KMDLGKIEFT WQEVMIGLES SILMFPINLL IVQIFQNTRP
  1621  RVAKEQNTGK WDRGSPNLTP SPQPMEDGLL TPEAVTKDVS RIVSSLFKAL KVPSPALGWD
  1681  SVNLMDINSL LALVEDVIYP QNTSGQVFWE EAKKREDPVT LTLGSSEMKE KSQCPKPKAA
  1741  RSGPWKDSAY RQCLYLQLEH VEQELRLVGP RGFSQPHSHA QALRQLQTLK GGLGVQPGTW
  1801  APAHASALQV SKPPQGLPWW CILVGWLLVA ATSGVAAFFT MLYGLHYGRA SSLRWLISMA
  1861  VSFVESMFVT QPLKVLGFAA FFALVLKRVD DEEDTVAPLP GHLLGPDPYA LFRARRNSSR
  1921  DVYQPPLTAA IEKMKTTHLK EQKAFALIRE ILAYLGFLWM LLLVAYGQRD PSAYHLNRHL
  1981  QHSFTRGFSG VLGFREFFKW ANTTLVSNLY GHPPGFITDG NSKLVGSAQI RQVRVQESSC
  2041  PLAQQPQAYL NGCRAPYSLD AEDMADYGEG WNATTLSEWQ YQSQDQRQGY PIWGKLTVYR
  2101  GGGYVVPLGT DRQSTSRILR YLFDNTWLDA LTRAVFVEST VYNANVNLFC IVTLTLETSA
  2161  LGTFFTHAAL QSLRLYPFTD GWHPFVVAAE LIYFLFLLYY MVVQGKRMSK ETWGYFCSKW
  2221  NLLELAIILA SWSALAVFVK RAVLAERDLQ RCRNHREEGI SFSETAAADA ALGYIIAFLV
  2281  LLSTVKLWHL LRLNPKMNMI TAALRRAWGD ISGFMIVILT MLLAYSIASN LIFGWKLRSY
  2341  KTLFDAAETM VSLQLGIFNY EEVLDYSPVL GSFLIGSCIV FMTFVVLNLF ISVILVAFSE
  2401  EQKYYQLSEE GEIVDLLLMK ILSFLGIKSK REEPGSSREQ PGSLSQTRHS RPAQALPKD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PKD1L2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Unknown
Secreted: No
Transmembrane segments: 12
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 8.1 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 8.1 nTPM
adipose tissue: 7.5 nTPM
heart muscle: 7.4 nTPM
seminal vesicle: 4.1 nTPM
cervix: 1.7 nTPM
endometrium: 1.6 nTPM

Single-cell type

choroid plexus epithelial cells: 373 nCPM
adipocytes: 126 nCPM
epicardial cells: 107 nCPM
fibro-adipogenic progenitors: 100 nCPM
retinal pigment epithelial cells: 60 nCPM
paneth cells: 54 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 32 nTPM
basal ganglia: 6.1 nTPM
white matter: 5.4 nTPM
thalamus: 4.9 nTPM
hippocampal formation: 4.7 nTPM
midbrain: 3.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PKD1L2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 550 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Otosclerosis 4

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.76
gnomAD pLI: 0
gnomAD missense Z: -3.24

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

detection of mechanical stimulus

Molecular functions

Cellular components

membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PKD1L2 as an antibody target. Whether an autoantibody or antibody against PKD1L2 could matter depends on whether native PKD1L2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PKD1L2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PKD1L2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...