Gene Gene information from NCBI Gene database.
Entrez ID 5420
Gene name Podocalyxin like
Gene symbol PODXL
Synonyms (NCBI Gene)
Gp200PCPCLPPCLP-1PDXPODXL1gp135
Chromosome 7
Chromosome location 7q32.3
Summary This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs55698400 T>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs1554391082 ->GGCGACGG Likely-pathogenic, uncertain-significance Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
603
miRTarBase ID miRNA Experiments Reference
MIRT001522 hsa-miR-155-5p pSILAC 18668040
MIRT002657 hsa-miR-124-3p Microarray 15685193
MIRT006811 hsa-miR-199b-5p ImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot 22374871
MIRT006811 hsa-miR-199b-5p ImmunohistochemistryLuciferase reporter assayNorthern blotqRT-PCRWestern blot 22374871
MIRT001522 hsa-miR-155-5p Proteomics;Other 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
VDR Unknown 23548800
WT1 Activation 15155752
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IDA 18456258
GO:0001726 Component Ruffle IEA
GO:0005515 Function Protein binding IPI 22662192, 32296183, 33961781, 35271311
GO:0005615 Component Extracellular space HDA 16502470
GO:0005730 Component Nucleolus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602632 9171 ENSG00000128567
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00592
Protein name Podocalyxin (GCTM-2 antigen) (Gp200) (Podocalyxin-like protein 1) (PC) (PCLP-1)
Protein function Involved in the regulation of both adhesion and cell morphology and cancer progression. Functions as an anti-adhesive molecule that maintains an open filtration pathway between neighboring foot processes in the podocyte by charge repulsion. Acts
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06365 CD34_antigen 358 558 CD34/Podocalyxin family Family
Tissue specificity TISSUE SPECIFICITY: Glomerular epithelium cell (podocyte).
Sequence
MRCALALSALLLLLSTPPLLPSSPSPSPSPSQNATQTTTDSSNKTAPTPASSVTIMATDT
AQQSTVPTSKANEILASVKATTLGVSSDSPGTTTLAQQVSGPVNTTVARGGGSGNPTTTI
ESPKSTKSADTTTVATSTATAKPNTTSSQNGAEDTTNSGGKSSHSVTTDLTSTKAEHLTT
PHPTSPLSPRQPTSTHPVATPTSSGHDHLMKISSSSSTVAIPGYTFTSPGMTTTLLETVF
HHVSQAGLELLTSGDLPTLASQSAGITASSVISQRTQQTSSQMPASSTAPSSQETVQPTS
PATALRTPTLPETMSSSPTAASTTHRYPKTPSPTVAHESNWAKCEDLETQTQSEKQLVLN
LTGNTLCAGGASDEKLISLICRAVKATFNPAQDKCGIRLASVPGSQTVVVKEITIHTKLP
AKDVYERLKDKWDELKEAGVSDMKLGDQGPPEEAEDRFSMPLIITIVCMASFLLLVAALY
GCCHQRLSQRKDQQRLTEELQTVENGYHDNPTLEVMETSSEMQEKKVVSLNGELGDSWIV
PLDNLTKDDLDEEEDTHL
Sequence length 558
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Salmonella infection  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
32
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive juvenile Parkinson disease 2 Likely pathogenic rs1554391082 RCV000210039
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nephrotic syndrome Benign rs11277659 RCV003994323
Parkinson disease, late-onset Uncertain significance rs869312170, rs869312171, rs869312172 RCV000210042
RCV000210043
RCV000210037
PODXL-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs3212298, rs11277659, rs147338873, rs139425581, rs140866787, rs140483735, rs187786761, rs201551993, rs778456078, rs750404956, rs2485262188, rs1584805418, rs528772547, rs760510403, rs150526057
View all (9 more)
RCV003921282
RCV003975975
RCV004756281
RCV003923730
RCV003968694
RCV003951332
RCV003906301
RCV003973534
RCV003973597
RCV003419153
RCV003946657
RCV003904279
RCV003911643
RCV003941372
RCV003966968
RCV003972944
RCV003975527
RCV003950401
RCV003967987
RCV004756073
RCV003957956
RCV003975726
RCV003910812
RCV003968283
RCV003958331
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 28004467
Adenocarcinoma of Lung Associate 28004467
Albuminuria Associate 24103534
Anophthalmia with pulmonary hypoplasia Associate 33972616
Breast Neoplasms Inhibit 8855966
Breast Neoplasms Associate 8932345
Calcinosis Cutis Associate 23819542, 24668684
Carcinogenesis Associate 28946619
Carcinoma Embryonal Associate 17970049, 30396958
Carcinoma Hepatocellular Associate 15154008