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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
mTOR signaling pathway WNT ligand biogenesis and trafficking
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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
Show/Hide Causal Diseases (6)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Chronic diarrhea Likely pathogenic rs370244148 RCV000656393
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diarrhea Likely pathogenic rs370244148 RCV000656393
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diarrhea 9 Likely pathogenic rs370244148 RCV000714963
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Failure to thrive Likely pathogenic rs370244148 RCV000656393
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Failure to thrive in infancy Likely pathogenic rs370244148 RCV000656393
★★★★★
★★★★☆
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.
Show/Hide Unknown Diseases (11)
Phenotype Name Clinical Significance Source Reference Evidence Score
CARDIOVASCULAR DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE — GWAS catalog 40195560
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION — GWAS catalog 30487518, 37947095, 38965376, 39024449, 39789286, 41206923
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM — GWAS catalog 41238958
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (57)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke CTD_human_DG 29531354
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17614820
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 19650845
★★★★★
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 32799327 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anterior segment mesenchymal dysgenesis Anterior segment mesenchymal dysgenesis Pubtator 33526876 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 18606951 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 12049819
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33746192, 35660418 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 11348463 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33407720 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only