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Gene Gene information from NCBI Gene database.
Entrez ID 1856
Gene name Dishevelled segment polarity protein 2
Gene symbol DVL2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p13.1
Summary This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation t
miRNA miRNA information provided by mirtarbase database.
47 Show/Hide all (47)
miRTarBase ID miRNA Experiments Reference
MIRT004684 hsa-miR-324-3p Luciferase reporter assay 19478946
MIRT002652 hsa-miR-124-3p Microarray 15685193
MIRT002652 hsa-miR-124-3p Microarray 18668037
MIRT024149 hsa-miR-221-3p Western blot;qRT-PCR 21487968
MIRT041680 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70 Show/Hide all (70)
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure IEA
GO:0001843 Process Neural tube closure ISS
GO:0001947 Process Heart looping IEA
GO:0001947 Process Heart looping ISS
GO:0003007 Process Heart morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602151 3086 ENSG00000004975
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14641
Protein name Segment polarity protein dishevelled homolog DVL-2 (Dishevelled-2) (DSH homolog 2)
Protein function Plays a role in the signal transduction pathways mediated by multiple Wnt genes (PubMed:24616100). Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing
PDB 2REY , 3CBX , 3CBY , 3CBZ , 3CC0 , 4WIP , 5LNP , 5SUY , 5SUZ , 6IW3 , 6JCK , 8WM9 , 8WMA , 8WWR , 8YR7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 267 → 352 PDZ domain Domain
PF00610 DEP 436 → 505 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF00778 DIX 12 → 91 DIX domain Family
PF02377 Dishevelled 109 → 263 Dishevelled specific domain Family
PF12316 Dsh_C 515 → 726 Segment polarity protein dishevelled (Dsh) C terminal Family
Sequence
Sequence length 736
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
mTOR signaling pathway WNT mediated activation of DVL
Wnt signaling pathway Signaling by Hippo
Notch signaling pathway PCP/CE pathway
Hippo signaling pathway Asymmetric localization of PCP proteins
Signaling pathways regulating pluripotency of stem cells Degradation of DVL
Melanogenesis Disassembly of the destruction complex and recruitment of AXIN to the membrane
Cushing syndrome WNT5A-dependent internalization of FZD4
Alzheimer disease RHO GTPases Activate Formins
Pathways of neurodegeneration - multiple diseases Cargo recognition for clathrin-mediated endocytosis
Human papillomavirus infection Clathrin-mediated endocytosis
Pathways in cancer WNT5:FZD7-mediated leishmania damping
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.).
6
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)
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 (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 30514930
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DVL2-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING LOSS — GWAS catalog 37165447
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE — GWAS catalog 35739095
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (58)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 20663899
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 20663899
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 31723073
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 20208569
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 31217850
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 28187436
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 30468298 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22655072, 36809986 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 20663899
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 32631335 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only