Gene Gene information from NCBI Gene database.
Entrez ID 7476
Gene name Wnt family member 7A
Gene symbol WNT7A
Synonyms (NCBI Gene)
SANTOSWnt-7a
Chromosome 3
Chromosome location 3p25.1
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.
9
SNP ID Visualize variation Clinical significance Consequence
rs75651130 G>A,C Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, missense variant
rs104893832 C>T Pathogenic Missense variant, coding sequence variant
rs104893835 G>A Pathogenic Missense variant, coding sequence variant
rs149363953 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs149962459 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
319
miRTarBase ID miRNA Experiments Reference
MIRT054418 hsa-miR-195-5p Luciferase reporter assayWestern blot 24520312
MIRT054420 hsa-miR-497-5p Luciferase reporter assayWestern blot 24520312
MIRT607119 hsa-miR-8485 HITS-CLIP 23313552
MIRT607118 hsa-miR-329-3p HITS-CLIP 23313552
MIRT607117 hsa-miR-362-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
110
GO ID Ontology Definition Evidence Reference
GO:0000578 Process Embryonic axis specification IMP 16826533
GO:0001502 Process Cartilage condensation IDA 17202865
GO:0001525 Process Angiogenesis IEA
GO:0002062 Process Chondrocyte differentiation IDA 17202865
GO:0005102 Function Signaling receptor binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601570 12786 ENSG00000154764
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00755
Protein name Protein Wnt-7a
Protein function Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patt
PDB 4UZQ , 8TZO , 8TZP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00110 wnt 40 349 wnt family Family
Tissue specificity TISSUE SPECIFICITY: Expression is restricted to placenta, kidney, testis, uterus, fetal lung, and fetal and adult brain.
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.
29
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Fuhrmann syndrome Pathogenic; Likely pathogenic rs104893832, rs387907231 RCV000008527
RCV004821964
Schinzel phocomelia syndrome Likely pathogenic; Pathogenic rs104893835, rs879255548, rs387907231, rs397514643, rs397514666 RCV000008526
RCV000239449
RCV000029192
RCV000033175
RCV000033263
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anophthalmia-microphthalmia syndrome Likely benign rs756214872 RCV000207359
Bladder exstrophy-epispadias-cloacal extrophy complex Uncertain significance rs772935313 RCV000172901
Santos syndrome Conflicting classifications of pathogenicity rs140491601 RCV005392150
WNT7A-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity rs145718587, rs35103037, rs367697256, rs759663787, rs748441283, rs748092973, rs75651130, rs149363953, rs766374751, rs569287841 RCV003943642
RCV003977734
RCV003949916
RCV003951570
RCV003947285
RCV003957416
RCV003905516
RCV003935617
RCV003958134
RCV003943254
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 22491060
Adenocarcinoma of Lung Associate 30353687, 35325730
Anophthalmia with pulmonary hypoplasia Associate 30361522
Bipolar Disorder Associate 18606951
Carcinogenesis Associate 23321718, 26055144
Carcinoma Hepatocellular Inhibit 31886205
Carcinoma Non Small Cell Lung Associate 15705594, 16835228, 20501643, 23056560, 23237220, 24204697, 25653486
Carcinoma Non Small Cell Lung Inhibit 32554486
Carcinoma Pancreatic Ductal Associate 30361522
Carcinoma Renal Cell Associate 23056560