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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Anophthalmia-microphthalmia syndrome Likely pathogenic rs1475762618 RCV000754650
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Matthew-Wood syndrome Pathogenic rs2146732713, rs1158594747, rs1569119395 RCV001728159
RCV001728160
RCV000754651
★★★★☆
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA WITH PULMONARY HYPOPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 24334458
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 29864439
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 33934523 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15972956 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15492823, 17510243, 24638982, 27326913, 29186616, 30128822
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 34457116, 9367869 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 30926782
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 37108089 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 19849855, 31277598 Associate
★☆☆☆☆
Found in Text Mining only