DVL3 dishevelled segment polarity protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DVL3provided by HGNC
Official Full Name: dishevelled segment polarity protein 3provided by HGNC
Primary source: HGNC:HGNC:3087
See related: Ensembl:ENSG00000161202 MIM:601368; AllianceGenome:HGNC:3087
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DRS3
Summary: 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]
Expression: Ubiquitous expression in placenta (RPKM 25.5), endometrium (RPKM 18.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (184155377..184173614)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (186964902..186982556)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183873165..183891402)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dishevelled Segment Polarity Protein 3 (DVL3) Induced by Bacterial LPS Promotes the Proliferation and Migration of Prostate Cancer Cells through the TLR4 Pathway.
Title: Dishevelled Segment Polarity Protein 3 (DVL3) Induced by Bacterial LPS Promotes the Proliferation and Migration of Prostate Cancer Cells through the TLR4 Pathway.
Disheveled3 enhanced EMT and cancer stem-like cells properties via Wnt/beta-catenin/c-Myc/SOX2 pathway in colorectal cancer.
Title: Disheveled3 enhanced EMT and cancer stem-like cells properties via Wnt/β-catenin/c-Myc/SOX2 pathway in colorectal cancer.
RNA-Binding Protein MEX3A Interacting with DVL3 Stabilizes Wnt/beta-Catenin Signaling in Endometrial Carcinoma.
Title: RNA-Binding Protein MEX3A Interacting with DVL3 Stabilizes Wnt/β-Catenin Signaling in Endometrial Carcinoma.
Circ_0101802 Facilitates Colorectal Cancer Progression Depending on the Regulation of miR-665/DVL3 Signaling.
Title: Circ_0101802 Facilitates Colorectal Cancer Progression Depending on the Regulation of miR-665/DVL3 Signaling.
Exosomal Dvl3 promoted the aggressive phenotypic transformation of RA-FLS via wnt pathway.
Title: Exosomal Dvl3 promoted the aggressive phenotypic transformation of RA-FLS via wnt pathway.
DVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts.
Title: DVL1 and DVL3 require nuclear localisation to regulate proliferation in human myoblasts.
The Gender-Specific Interaction of DVL3 and GSK3beta Polymorphisms on Major Depressive Disorder Susceptibility in a Chinese Han Population: A Case-Control Study.
Title: The Gender-Specific Interaction of DVL3 and GSK3β Polymorphisms on Major Depressive Disorder Susceptibility in a Chinese Han Population: A Case-Control Study.
Clinical and molecular characterization of four patients with Robinow syndrome from different families.
Title: Clinical and molecular characterization of four patients with Robinow syndrome from different families.
DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway.
Title: DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway.
Polymorphism and expression of the Dvl3 gene in the etiology of depressive disorder.", trans "Znaczenie polimorfizmu i ekspresji genu Dvl3 w etiologii zaburzen depresyjnych nawracajacych.
Title: Polymorphism and expression of the Dvl3 gene in the etiology of depressive disorder.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant Robinow syndrome 3 MedGen: C4225164 OMIM: 616894 GeneReviews: Autosomal Dominant Robinow Syndrome	Compare labs

EBI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S4388 (e-PCR)
- UniSTS:474139

NoName (e-PCR)
- UniSTS:532277

Dvl3 (e-PCR), detects polymorphism
- UniSTS:532277

SHGC-77602 (e-PCR)
- UniSTS:13115

SHGC-77605 (e-PCR)
- UniSTS:53083

STS-R80399 (e-PCR)
- UniSTS:23916

1436 (e-PCR)
- UniSTS:5039

Dvl3 (e-PCR), detects polymorphism
- UniSTS:508380

RH77956 (e-PCR)
- UniSTS:11756

RH101840 (e-PCR)
- UniSTS:51709

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables frizzled binding	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	IPI Inferred from Physical Interaction more info	PubMed
enables frizzled binding	TAS Traceable Author Statement more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway, planar cell polarity pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Wnt signaling pathway, planar cell polarity pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in non-canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in planar cell polarity pathway involved in neural tube closure	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection arborization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in regulation of protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: segment polarity protein dishevelled homolog DVL-3

Names: dishevelled 3 (homologous to Drosophila dsh); dishevelled, dsh homolog 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046860.1 RefSeqGene

Range

5067..23304

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1269

mRNA and Protein(s)

NM_004423.4 → NP_004414.3 segment polarity protein dishevelled homolog DVL-3

See identical proteins and their annotated locations for NP_004414.3

Status: REVIEWED

Source sequence(s)

AC131235, D86963, U75651

Consensus CDS

CCDS3253.1

UniProtKB/Swiss-Prot

B4E3E5, D3DNT0, O14642, Q13531, Q8N5E9, Q92607, Q92997

UniProtKB/TrEMBL

Q8WVA8

Related

ENSP00000316054.3, ENST00000313143.9

Conserved Domains (5) summary

smart00021
Location:1 → 82

DAX; Domain present in Dishevelled and axin

cd00992
Location:247 → 334

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd04438
Location:413 → 496

DEP_dishevelled; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in dishevelled-like proteins. Dishevelled-like proteins play a key role in the transduction of the Wnt signal from the cell surface to the nucleus, which in turn is an important regulatory pathway ...

pfam02377
Location:92 → 245

Dishevelled; Dishevelled specific domain

pfam12316
Location:500 → 706

Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal