Gene Gene information from NCBI Gene database.
Entrez ID 7474
Gene name Wnt family member 5A
Gene symbol WNT5A
Synonyms (NCBI Gene)
hWNT5A
Chromosome 3
Chromosome location 3p14.3
Summary The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryog
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs78756487 AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA Uncertain-significance, conflicting-interpretations-of-pathogenicity 3 prime UTR variant
rs181894008 G>A,C,T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Intron variant
rs387906663 A>G Pathogenic Missense variant, coding sequence variant
rs587784562 C>G Likely-pathogenic Missense variant, coding sequence variant
rs786200925 C>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
905
miRTarBase ID miRNA Experiments Reference
MIRT005162 hsa-miR-30a-5p pSILAC 18668040
MIRT020965 hsa-miR-155-5p Proteomics 20584899
MIRT021154 hsa-miR-186-5p Sequencing 20371350
MIRT005162 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT030983 hsa-miR-21-5p Microarray 18591254
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
CUX1 Activation 17227781;23359789
HOXB7 Activation 21183939
PITX2 Unknown 23250740
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
232
GO ID Ontology Definition Evidence Reference
GO:0001736 Process Establishment of planar polarity IEA
GO:0001756 Process Somitogenesis IEA
GO:0001819 Process Positive regulation of cytokine production IEA
GO:0001822 Process Kidney development IEA
GO:0001837 Process Epithelial to mesenchymal transition IEP 12841867
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164975 12784 ENSG00000114251
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41221
Protein name Protein Wnt-5a
Protein function Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhib
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00110 wnt 71 380 wnt family Family
Tissue specificity TISSUE SPECIFICITY: Expression is increased in differentiated thyroid carcinomas compared to normal thyroid tissue and anaplastic thyroid tumors where expression is low or undetectable. Expression is found in thyrocytes but not in stromal cells (at protei
Sequence
Sequence length 380
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
Axon guidance
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  TCF dependent signaling in response to WNT
WNT ligand biogenesis and trafficking
Ca2+ pathway
PCP/CE pathway
Asymmetric localization of PCP proteins
WNT5A-dependent internalization of FZD4
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
WNT5:FZD7-mediated leishmania damping
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
82
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant Robinow syndrome 1 Pathogenic; Likely pathogenic rs786204837, rs786204836, rs387906663, rs786200925, rs1553677971, rs2106946273 RCV001376107
RCV000169740
RCV000022695
RCV000022696
RCV000577882
RCV001353076
RCV001353077
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Conflicting classifications of pathogenicity rs188798140 RCV005888283
Short stature Uncertain significance rs963662325 RCV003529920
WNT5A-related disorder Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance rs2106945723, rs188798140, rs771114367, rs756458693, rs181894008, rs200868061, rs751084010, rs2051227861, rs1359294973, rs117338660, rs756403639, rs775072555, rs2471282057, rs752929793, rs376719937
View all (1 more)
RCV003938861
RCV003968822
RCV003895876
RCV004754852
RCV003965115
RCV003977459
RCV003943442
RCV003405948
RCV003400101
RCV003957793
RCV003981110
RCV003956580
RCV003982552
RCV003902097
RCV003957114
RCV003969282
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 35239776
Acute On Chronic Liver Failure Associate 38062395
Adenocarcinoma Associate 27084312, 28465645
Adenoma Stimulate 10507776
Adenoma Associate 27245242
Adenomatous Polyposis Coli Inhibit 17463182
Amyotrophic Lateral Sclerosis Associate 30924074
Aortic Dissection Associate 36959563
Arthritis Psoriatic Associate 35055107
Arthritis Rheumatoid Associate 10688908, 11315916, 33178184, 34211463