Gene Gene information from NCBI Gene database.
Entrez ID 7471
Gene name Wnt family member 1
Gene symbol WNT1
Synonyms (NCBI Gene)
BMND16INT1OI15
Chromosome 12
Chromosome location 12q13.12
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.
1
SNP ID Visualize variation Clinical significance Consequence
rs387907358 G>T Uncertain-significance, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
68
miRTarBase ID miRNA Experiments Reference
MIRT001231 hsa-miR-34a-5p Luciferase reporter assay 19336450
MIRT001231 hsa-miR-34a-5p Luciferase reporter assay 19336450
MIRT001231 hsa-miR-34a-5p Luciferase reporter assay 19336450
MIRT001231 hsa-miR-34a-5p FlowImmunoblotLuciferase reporter assayMicroarrayqRT-PCR 19398721
MIRT005718 hsa-let-7e-5p FlowImmunoblotLuciferase reporter assayMicroarrayqRT-PCR 19398721
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
101
GO ID Ontology Definition Evidence Reference
GO:0000578 Process Embryonic axis specification IEA
GO:0000578 Process Embryonic axis specification ISS
GO:0001658 Process Branching involved in ureteric bud morphogenesis IEA
GO:0005102 Function Signaling receptor binding IEA
GO:0005109 Function Frizzled binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164820 12774 ENSG00000125084
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04628
Protein name Proto-oncogene Wnt-1 (Proto-oncogene Int-1 homolog)
Protein function Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:23656646, PubMed:26902720,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00110 wnt 60 370 wnt family Family
Sequence
Sequence length 370
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
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
Chemical carcinogenesis - receptor activation
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  TCF dependent signaling in response to WNT
WNT ligand biogenesis and trafficking
PCP/CE pathway
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
65
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Osteogenesis imperfecta Pathogenic rs779969402 RCV002271673
Osteogenesis imperfecta type 15 Likely pathogenic; Pathogenic rs2137624585, rs779969402, rs2137625115, rs2137625424, rs2137625459, rs727505392, rs2498946534, rs778294620, rs1555178899, rs387907353, rs387907354, rs387907355, rs387907356, rs387907357 RCV001729995
RCV001806348
RCV005006132
RCV002244150
RCV002251300
RCV000157063
RCV003134801
RCV003139442
RCV000677241
RCV000043491
RCV000043493
RCV000043494
RCV000043495
RCV000043496
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO Likely pathogenic; Pathogenic rs2137625115, rs387907353, rs387907356 RCV005006132
RCV000043492
RCV005007964
See cases Pathogenic rs2498947383 RCV004584491
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Connective tissue disorder Uncertain significance rs1324762785 RCV002278843
Gastric cancer Uncertain significance rs201861196 RCV005925574
Keratoconus Conflicting classifications of pathogenicity rs387907358 RCV000678662
Osteogenesis imperfecta type III Conflicting classifications of pathogenicity rs1592257435 RCV000860011
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 18399550
Adenoma Pleomorphic Associate 25076852
Adrenal Cortex Neoplasms Associate 32522271
Amyotrophic Lateral Sclerosis Inhibit 25811776
Arthritis Rheumatoid Associate 10688908, 12428226
Arthropathy progressive pseudorheumatoid of childhood Associate 29246200
Autism Spectrum Disorder Associate 24002087
Bone Diseases Associate 27005318, 30447692
Bone Diseases Metabolic Associate 31968132, 33716164
Brain Diseases Associate 30012084