DVL2 (dishevelled segment polarity protein 2)

Gene

• 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

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
MIRT041680	hsa-miR-484	CLASH	23622248
MIRT948580	hsa-miR-1197	CLIP-seq
MIRT948581	hsa-miR-150	CLIP-seq
MIRT948582	hsa-miR-221	CLIP-seq
MIRT948583	hsa-miR-222	CLIP-seq
MIRT948584	hsa-miR-3121-3p	CLIP-seq
MIRT948585	hsa-miR-3130-5p	CLIP-seq
MIRT948586	hsa-miR-3136-3p	CLIP-seq
MIRT948587	hsa-miR-3163	CLIP-seq
MIRT948588	hsa-miR-3714	CLIP-seq
MIRT948589	hsa-miR-4436a	CLIP-seq
MIRT948590	hsa-miR-4482	CLIP-seq
MIRT948591	hsa-miR-4713-5p	CLIP-seq
MIRT948592	hsa-miR-4762-5p	CLIP-seq
MIRT948593	hsa-miR-4802-3p	CLIP-seq
MIRT948594	hsa-miR-495	CLIP-seq
MIRT948595	hsa-miR-532-3p	CLIP-seq
MIRT948596	hsa-miR-548an	CLIP-seq
MIRT948597	hsa-miR-583	CLIP-seq
MIRT948598	hsa-miR-802	CLIP-seq
MIRT1981056	hsa-miR-128	CLIP-seq
MIRT1981057	hsa-miR-27a	CLIP-seq
MIRT1981058	hsa-miR-27b	CLIP-seq
MIRT1981059	hsa-miR-300	CLIP-seq
MIRT1981060	hsa-miR-3677-5p	CLIP-seq
MIRT1981061	hsa-miR-381	CLIP-seq
MIRT1981062	hsa-miR-4269	CLIP-seq
MIRT1981063	hsa-miR-4645-5p	CLIP-seq
MIRT1981064	hsa-miR-4666-3p	CLIP-seq
MIRT1981065	hsa-miR-4673	CLIP-seq
MIRT1981066	hsa-miR-4694-5p	CLIP-seq
MIRT1981067	hsa-miR-4701-5p	CLIP-seq
MIRT1981068	hsa-miR-4789-5p	CLIP-seq
MIRT1981069	hsa-miR-588	CLIP-seq
MIRT2216172	hsa-miR-618	CLIP-seq
MIRT948581	hsa-miR-150	CLIP-seq
MIRT2679606	hsa-miR-3155	CLIP-seq
MIRT2679607	hsa-miR-3155b	CLIP-seq
MIRT948591	hsa-miR-4713-5p	CLIP-seq
MIRT948592	hsa-miR-4762-5p	CLIP-seq
MIRT2679608	hsa-miR-516a-3p	CLIP-seq
MIRT948595	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

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
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0005109	Function	Frizzled binding	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005109	Function	Frizzled binding	IPI	19388021
GO:0005109	Function	Frizzled binding	TAS	25424568
GO:0005515	Function	Protein binding	IPI	10644691, 11742073, 16189514, 16446366, 16713569, 19249679, 19379695, 19465938, 19625296, 20224554, 20412773, 20823832, 21245303, 21262972, 21516116, 22609948, 22610794, 22773187, 23371553, 23455922, 23708998, 25557784, 26496610, 27107012, 29892012, 31046837, 31515488, 32707033, 328
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	9192851, 23209302
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	11742073
GO:0007379	Process	Segment specification	IEA
GO:0007379	Process	Segment specification	ISS
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0008104	Process	Intracellular protein localization	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016235	Component	Aggresome	IDA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0022007	Process	Convergent extension involved in neural plate elongation	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	23209302
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	TAS	19137009
GO:0035282	Process	Segmentation	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035567	Process	Non-canonical Wnt signaling pathway	IEA
GO:0035567	Process	Non-canonical Wnt signaling pathway	IMP	19137009
GO:0035567	Process	Non-canonical Wnt signaling pathway	TAS	25424568
GO:0042127	Process	Regulation of cell population proliferation	IDA	18787224
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 27107012
GO:0045177	Component	Apical part of cell	IEA
GO:0045334	Component	Clathrin-coated endocytic vesicle	TAS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12805222, 17593335
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IDA	17593335
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IMP	19137009
GO:0060029	Process	Convergent extension involved in organogenesis	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	17593335, 18787224
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	20137080
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	25424568
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IDA	12805222
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0150012	Process	Positive regulation of neuron projection arborization	IEA
GO:0150012	Process	Positive regulation of neuron projection arborization	ISS
GO:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IDA	17593335

Other IDs

• MIM: 602151
• HGNC: 3086
• e!Ensembl: ENSG00000004975

Protein

• UniProt ID: 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
  PF00778	DIX	12 → 91	DIX domain	Family
  PF02377	Dishevelled	109 → 263	Dishevelled specific domain	Family
  PF00595	PDZ	267 → 352	PDZ domain	Domain
  PF00610	DEP	436 → 505	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain
  PF12316	Dsh_C	515 → 726	Segment polarity protein dishevelled (Dsh) C terminal	Family

• Sequence:

  MAGSSTGGGGVGETKVIYHLDEEETPYLVKIPVPAERITLGDFKSVLQRPAGAKYFFKSM
  DQDFGVVKEEISDDNARLPCFNGRVVSWLVSSDNPQPEMAPPVHEPRAELAPPAPPLPPL
  PPERTSGIGDSRPPSFHPNVSSSHENLEPETETESVVSLRRERPRRRDSSEHGAGGHRTG
  GPSRLERHLAGYESSSTLMTSELESTSLGDSDEEDTMSRFSSSTEQSSASRLLKRHRRRR
  KQRPPRLERTSSFSSVTDSTMSLNIITVTLNMEKYNFLGISIVGQSNERGDGGIYIGSIM
  KGGAVAADGRIEPGDMLLQVNDMNFENMSNDDAVRVLRDIVHKPGPIVLTVAKCWDPSPQ
  AYFTLPRNEPIQPIDPAAWVSHSAALTGTFPAYPGSSSMSTITSGSSLPDGCEGRGLSVH
  TDMASVTKAMAAPESGLEVRDRMWLKITIPNAFLGSDVVDWLYHHVEGFPERREARKYAS
  GLLKAGLIRHTVNKITFSEQCYYVFGDLSGGCESYLVNLSLNDNDGSSGASDQDTLAPLP
  GATPWPLLPTFSYQYPAPHPYSPQPPPYHELSSYTYGGGSASSQHSEGSRSSGSTRSDGG
  AGRTGRPEERAPESKSGSGSESEPSSRGGSLRRGGEASGTSDGGPPPSRGSTGGAPNLRA
  HPGLHPYGPPPGMALPYNPMMVVMMPPPPPPVPPAVQPPGAPPVRDLGSVPPELTASRQS
  FHMAMGNPSEFFVDVM

• Sequence length: 736

Pathways

KEGG:

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

Reactome:

WNT mediated activation of DVL
Signaling by Hippo
PCP/CE pathway
Asymmetric localization of PCP proteins
Degradation of DVL
Disassembly of the destruction complex and recruitment of AXIN to the membrane
WNT5A-dependent internalization of FZD4
RHO GTPases Activate Formins
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
WNT5:FZD7-mediated leishmania damping

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31969493, 35121725	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26975036	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	37222325	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	20208569		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27086035		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	28614913	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	22887353		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25871009		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20663899, 27648936, 29515783, 31723073		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24427302, 30635359, 31723073	Associate	★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	37222325	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26975036		★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	BEFREE	23836490		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29749449		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	34417138	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	28288669	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	31816052		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21990322		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21990322, 30929997		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29528187		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	25395054		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29226968, 30386554		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	28288669		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27086035		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28589433, 30804458		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18692936		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31723073	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30866999		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23652996		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30468298		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25871009		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	18787224		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20208569		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20663899, 21691068, 21990322, 27083564		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	22610794, 22892949, 23836490		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	22892949	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19303468, 29749449	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30866999		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23652996		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23652996		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24413182	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26975036		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28187436		★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Sacral defect	Pubtator	22892949	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	23396968	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27083564, 28119087		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	29298094		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34873055	Associate	★☆☆☆☆ Found in Text Mining only