Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1857
Gene name Gene Name - the full gene name approved by the HGNC.
Dishevelled segment polarity protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DVL3
Synonyms (NCBI Gene) Gene synonyms aliases
DRS3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DRS3
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q27.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs753876000 G>A,T Likely-pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs869025215 G>- Pathogenic Frameshift variant, coding sequence variant
rs869025216 A>C,G Pathogenic Splice acceptor variant
rs869025217 G>A,C Pathogenic, likely-pathogenic Splice acceptor variant
rs869025218 C>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030326 hsa-miR-26b-5p Microarray 19088304
MIRT050752 hsa-miR-17-3p CLASH 23622248
MIRT048809 hsa-miR-93-5p CLASH 23622248
MIRT044424 hsa-miR-320a CLASH 23622248
MIRT039825 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 21880741
GO:0001934 Process Positive regulation of protein phosphorylation IMP 20137080
GO:0002020 Function Protease binding IPI 20227366
GO:0005102 Function Signaling receptor binding IPI 17030191
GO:0005109 Function Frizzled binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601368 3087 ENSG00000161202
Protein
UniProt ID Q92997
Protein name Segment polarity protein dishevelled homolog DVL-3 (Dishevelled-3) (DSH homolog 3)
Protein function Involved in the signal transduction pathway mediated by multiple Wnt genes.
PDB 6V7O , 6ZBQ , 6ZBZ , 6ZC3 , 6ZC4 , 6ZC6 , 6ZC7 , 6ZC8 , 8S6A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00778 DIX 2 80 DIX domain Family
PF02377 Dishevelled 87 245 Dishevelled specific domain Family
PF00595 PDZ 249 334 PDZ domain Domain
PF00610 DEP 425 494 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF12316 Dsh_C 500 706 Segment polarity protein dishevelled (Dsh) C terminal Family
Sequence
Sequence length 716
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  mTOR signaling pathway
Wnt signaling pathway
Notch 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
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  WNT mediated activation of DVL
PCP/CE pathway
Degradation of DVL
Disassembly of the destruction complex and recruitment of AXIN to the membrane
RHO GTPases Activate Formins
WNT5:FZD7-mediated leishmania damping
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Specific learning disorder Specific learning disability ClinVar
Robinow Syndrome autosomal dominant Robinow syndrome 3, autosomal dominant Robinow syndrome GenCC
Mental Depression Mental Depression GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Stimulate 22461838
Anencephaly Associate 29573971
Arthritis Rheumatoid Associate 35499309
Astrocytoma Associate 30468298
Brain Neoplasms Associate 24933634
Breast Neoplasms Associate 33910530
Carcinogenesis Associate 33860601
Carcinoma Squamous Cell Associate 24004673
Chediak Higashi Syndrome Associate 34130600
Colorectal Neoplasms Associate 24427302, 33016900