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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal recessive juvenile Parkinson disease 2 Likely pathogenic rs1554391082 RCV000210039
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATYPICAL JUVENILE PARKINSONISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMORRHAGE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal male sexual function Abnormal Male Sexual Function HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17137615
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28004467, 30975647
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28004467
★☆☆☆☆
Found in Text Mining only
Akinesia Akinesia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 18639524
★☆☆☆☆
Found in Text Mining only
Anarthria speech disorder Anarthria Speech Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26053486
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 33972616 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only