DVL2 dishevelled segment polarity protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DVL2provided by HGNC
Official Full Name: dishevelled segment polarity protein 2provided by HGNC
Primary source: HGNC:HGNC:3086
See related: Ensembl:ENSG00000004975 MIM:602151; AllianceGenome:HGNC:3086
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
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 to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 14.8), endometrium (RPKM 11.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7225342..7234517, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7126253..7135444, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7128661..7137836, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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 2 promotes gastric cancer progression through Wnt/beta-catenin pathway.
Title: Dishevelled segment polarity protein 2 promotes gastric cancer progression through Wnt/β-catenin pathway.
Overexpressions of RHOA, CSNK1A1, DVL2, FZD8, and LRP5 genes enhance gastric cancer development in the presence of Helicobacter pylori.
Title: Overexpressions of RHOA, CSNK1A1, DVL2, FZD8, and LRP5 genes enhance gastric cancer development in the presence of Helicobacter pylori.
Inhibiting von Hippel-Lindau protein-mediated Dishevelled ubiquitination protects against experimental parkinsonism.
Title: Inhibiting von Hippel‒Lindau protein-mediated Dishevelled ubiquitination protects against experimental parkinsonism.
Dishevelled phase separation promotes Wnt signalosome assembly and destruction complex disassembly.
Title: Dishevelled phase separation promotes Wnt signalosome assembly and destruction complex disassembly.
DACT3 has a tumor-inhibiting role in acute myeloid leukemia via the suppression of Wnt/beta-catenin signaling by DVL2.
Title: DACT3 has a tumor-inhibiting role in acute myeloid leukemia via the suppression of Wnt/β-catenin signaling by DVL2.
HBx increases chromatin accessibility and ETV4 expression to regulate dishevelled-2 and promote HCC progression.
Title: HBx increases chromatin accessibility and ETV4 expression to regulate dishevelled-2 and promote HCC progression.
Cumulus cells of euploid versus whole chromosome 21 aneuploid embryos reveal differentially expressed genes.
Title: Cumulus cells of euploid versus whole chromosome 21 aneuploid embryos reveal differentially expressed genes.
Dvl2 facilitates the coordination of NF-kappaB and Wnt signaling to promote colitis-associated colorectal progression.
Title: Dvl2 facilitates the coordination of NF-κB and Wnt signaling to promote colitis-associated colorectal progression.
Targeting E3 Ubiquitin Ligase WWP1 Prevents Cardiac Hypertrophy Through Destabilizing DVL2 via Inhibition of K27-Linked Ubiquitination.
Title: Targeting E3 Ubiquitin Ligase WWP1 Prevents Cardiac Hypertrophy Through Destabilizing DVL2 via Inhibition of K27-Linked Ubiquitination.
Regulation of Dishevelled DEP domain swapping by conserved phosphorylation sites.
Title: Regulation of Dishevelled DEP domain swapping by conserved phosphorylation sites.

Submit: New GeneRIF Correction See all GeneRIFs (76)

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

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

DVL2__3968 (e-PCR)
- UniSTS:462886

RH11492 (e-PCR)
- UniSTS:73605

SHGC-35547 (e-PCR)
- UniSTS:15298

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

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	TAS Traceable Author Statement more info	PubMed
involved_in cochlea morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in convergent extension involved in neural plate elongation	IEA Inferred from Electronic Annotation more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
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-binding transcription factor 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 JUN kinase activity	IDA Inferred from Direct Assay 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 localization	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in segment specification	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in aggresome	IDA Inferred from Direct Assay more info
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated endocytic vesicle	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: segment polarity protein dishevelled homolog DVL-2

Names: dishevelled 2 (homologous to Drosophila dsh); dishevelled, dsh homolog 2

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_033038.1 RefSeqGene

Range

5028..14203

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004422.3 → NP_004413.1 segment polarity protein dishevelled homolog DVL-2

See identical proteins and their annotated locations for NP_004413.1

Status: REVIEWED

Source sequence(s)

AK026019, BC014844, BG716400, CB994349

Consensus CDS

CCDS11091.1

UniProtKB/Swiss-Prot

D3DTN3, O14641, Q53XM0

UniProtKB/TrEMBL

I3L2N2

Related

ENSP00000005340.4, ENST00000005340.10

Conserved Domains (5) summary

smart00021
Location:13 → 93

DAX; Domain present in Dishevelled and axin

cd00992
Location:265 → 352

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:424 → 507

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:125 → 263

Dishevelled; Dishevelled specific domain

pfam12316
Location:515 → 726

Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

7225342..7234517 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005256502.3 → XP_005256559.1 segment polarity protein dishevelled homolog DVL-2 isoform X1

UniProtKB/TrEMBL

I3L2N2

Conserved Domains (5) summary

smart00021
Location:13 → 93

DAX; Domain present in Dishevelled and axin

cd00992
Location:261 → 348

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:420 → 503

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:125 → 259

Dishevelled; Dishevelled specific domain

pfam12316
Location:511 → 722

Dsh_C; Segment polarity protein dishevelled (Dsh) C terminal
XM_047435518.1 → XP_047291474.1 segment polarity protein dishevelled homolog DVL-2 isoform X2
XM_047435522.1 → XP_047291478.1 segment polarity protein dishevelled homolog DVL-2 isoform X5
XM_047435520.1 → XP_047291476.1 segment polarity protein dishevelled homolog DVL-2 isoform X4
XM_047435519.1 → XP_047291475.1 segment polarity protein dishevelled homolog DVL-2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

7126253..7135444 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315308.1 → XP_054171283.1 segment polarity protein dishevelled homolog DVL-2 isoform X1
XM_054315309.1 → XP_054171284.1 segment polarity protein dishevelled homolog DVL-2 isoform X2
XM_054315312.1 → XP_054171287.1 segment polarity protein dishevelled homolog DVL-2 isoform X5
XM_054315311.1 → XP_054171286.1 segment polarity protein dishevelled homolog DVL-2 isoform X4
XM_054315310.1 → XP_054171285.1 segment polarity protein dishevelled homolog DVL-2 isoform X3