Gene Gene information from NCBI Gene database.
Entrez ID 7482
Gene name Wnt family member 2B
Gene symbol WNT2B
Synonyms (NCBI Gene)
WNT13
Chromosome 1
Chromosome location 1p13.2
Summary This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs370244148 C>A,T Pathogenic Coding sequence variant, 5 prime UTR variant, synonymous variant, stop gained
rs879255420 C>T Pathogenic, uncertain-significance Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
244
miRTarBase ID miRNA Experiments Reference
MIRT437828 hsa-miR-324-3p Luciferase reporter assay 23583221
MIRT437828 hsa-miR-324-3p Luciferase reporter assay 23583221
MIRT437828 hsa-miR-324-3p qRT-PCR 24367666
MIRT438036 hsa-miR-93-5p qRT-PCR 24367666
MIRT437828 hsa-miR-324-3p qRT-PCR 24367666
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
GLI2 Activation 19360354
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0002062 Process Chondrocyte differentiation IEP 15135146
GO:0002088 Process Lens development in camera-type eye ISS 16258938
GO:0005102 Function Signaling receptor binding IEA
GO:0005109 Function Frizzled binding IBA
GO:0005125 Function Cytokine activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601968 12781 ENSG00000134245
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q93097
Protein name Protein Wnt-2b (Protein Wnt-13)
Protein function Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a redundant role in embryonic lung development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00110 wnt 74 380 wnt family Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is expressed in adult heart, brain, placenta, lung, prostate, testis, ovary, small intestine and colon. In the adult brain, it is mainly found in the caudate nucleus, subthalamic nucleus and thalamus. Also detected in fetal b
Sequence
Sequence length 391
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
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  WNT ligand biogenesis and trafficking
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic diarrhea Likely pathogenic rs370244148 RCV000656393
Diarrhea Likely pathogenic rs370244148 RCV000656393
Diarrhea 9 Likely pathogenic rs370244148 RCV000714963
Failure to thrive Likely pathogenic rs370244148 RCV000656393
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
WNT2B-related disorder Likely benign; Benign rs137855546, rs533989713, rs778478670, rs112638528, rs2227860, rs140445206 RCV003898812
RCV003896221
RCV003906400
RCV003970830
RCV003978372
RCV003957963
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anophthalmia with pulmonary hypoplasia Associate 32799327
Anterior segment mesenchymal dysgenesis Associate 33526876
Autoimmune enteropathy Associate 33526876
Bipolar Disorder Associate 18606951
Breast Neoplasms Associate 33746192, 35660418
Carcinoma Basal Cell Stimulate 11348463
Carcinoma Hepatocellular Associate 33407720
Carcinoma Non Small Cell Lung Associate 30015869, 36102318
Carcinoma Renal Cell Associate 31486486
Carcinoma Squamous Cell Associate 29568882