Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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
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

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
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

MIM	HGNC	e!Ensembl
602151	3086	ENSG00000004975

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

Interactions

View interactions

	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 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

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
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

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Astrocytoma	Associate	30468298	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	22655072, 36809986	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Associate	32631335	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	31969493, 35121725	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	26975036	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Associate	37222325	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Associate	28614913	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	24427302, 30635359, 31723073	★★★★★ ★☆☆☆☆ Found in Text Mining only
Constipation	Associate	37222325	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea Chronic with Villous Atrophy	Associate	37222325	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disease	Stimulate	37534375	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Associate	34417138	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Associate	28288669	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fetal Growth Retardation	Associate	33485290	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	27086035, 33121237	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	31723073	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Mantle Cell	Associate	18787224	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	35121725	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	26975036, 31723073, 33561744, 36809986	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	37534375	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Associate	22892949	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Associate	30468298	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Associate	19303468, 29749449	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pneumonia Pneumocystis	Associate	29573971	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	24413182	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacral defect and anterior sacral meningocele	Associate	22892949	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Associate	23396968	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Associate	34873055	★★★★★ ★☆☆☆☆ Found in Text Mining only

DVL2 (dishevelled segment polarity protein 2)