Gene Gene information from NCBI Gene database.
Entrez ID 7477
Gene name Wnt family member 7B
Gene symbol WNT7B
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q13.31
Summary This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fat
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1475762618 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1569119395 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
609
miRTarBase ID miRNA Experiments Reference
MIRT016848 hsa-miR-335-5p Microarray 18185580
MIRT463899 hsa-miR-4698 HITS-CLIP 19536157
MIRT463898 hsa-miR-7113-5p HITS-CLIP 19536157
MIRT463897 hsa-miR-4685-5p HITS-CLIP 19536157
MIRT463896 hsa-miR-6837-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
AR Activation 21741601
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development ISS
GO:0003338 Process Metanephros morphogenesis ISS
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
601967 12787 ENSG00000188064
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56706
Protein name Protein Wnt-7b
Protein function Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:30026314). Required for normal fusion of the chorion and the allantois during placenta developm
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00110 wnt 40 349 wnt family Family
Tissue specificity TISSUE SPECIFICITY: Moderately expressed in fetal brain, weakly expressed in fetal lung and kidney, and faintly expressed in adult brain, lung and prostate.
Sequence
Sequence length 349
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.
5
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anophthalmia-microphthalmia syndrome Likely pathogenic rs1475762618 RCV000754650
Matthew-Wood syndrome Pathogenic rs2146732713, rs1158594747, rs1569119395 RCV001728159
RCV001728160
RCV000754651
See cases Pathogenic rs1569119395 RCV003313088
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anophthalmia with pulmonary hypoplasia Associate 33934523
Arthritis Rheumatoid Associate 15972956
Axial osteomalacia Associate 32761137
Breast Neoplasms Associate 34457116, 9367869
Bursitis Associate 34111113
Carcinoma Stimulate 37108089
Carcinoma Hepatocellular Associate 19849855, 31277598
Carcinoma Renal Cell Associate 33804101
Carcinoma Squamous Cell Associate 28340578
Carcinoma Squamous Cell Stimulate 35850748