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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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
Fuhrmann syndrome Pathogenic; Likely pathogenic rs104893832, rs387907231 RCV000008527
RCV004821964
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schinzel phocomelia syndrome Likely pathogenic; Pathogenic rs104893835, rs879255548, rs387907231, rs397514643, rs397514666 RCV000008526
RCV000239449
RCV000029192
RCV000033175
RCV000033263
★★★★★
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
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX Disgenet
★★☆☆☆
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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 22313908
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30353687
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 22313908
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 29864439
★☆☆☆☆
Found in Text Mining only
Al Awadi syndrome Al Awadi Syndrome BEFREE 16826533, 20949531, 23266637, 23727605, 23922166, 27638328, 28917830
★☆☆☆☆
Found in Text Mining only
Al Awadi syndrome Al Awadi Syndrome UNIPROT_DG 16826533, 17431918, 20949531, 21271649, 27638328
★☆☆☆☆
Found in Text Mining only
Al Awadi syndrome Al Awadi Syndrome GENOMICS_ENGLAND_DG 20949531
★☆☆☆☆
Found in Text Mining only
Al Awadi syndrome Al Awadi Syndrome ORPHANET_DG 23266637, 23922166
★☆☆☆☆
Found in Text Mining only
Al Awadi syndrome Al Awadi Syndrome CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Al Awadi syndrome Al Awadi Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only