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DVL1 Gene(Protein Coding)

Dishevelled Segment Polarity Protein 1

GCID:
GC01M001335
GIFtS:
67
Genes Participants
UDN Logo

Aliases for DVL1 Gene

Aliases for DVL1 Gene

  • Dishevelled Segment Polarity Protein 1 2 3 5
  • Dishevelled 1 (Homologous To Drosophila Dsh) 2 3
  • DSH Homolog 1 3 4
  • Dishevelled-1 3 4
  • Segment Polarity Protein Dishevelled Homolog DVL-1 3
  • Dishevelled, Dsh Homolog 1 (Drosophila) 2
  • Dishevelled, Dsh Homolog 1 3
  • DVL1L1 3
  • DVL1P1 3
  • DRS2 3
  • DVL 3

External Ids for DVL1 Gene

Previous GeneCards Identifiers for DVL1 Gene

  • GC01M000796
  • GC01M001021
  • GC01M001147
  • GC01M001177
  • GC01M001178
  • GC01M001311
  • GC01M001261
  • GC01M001262

Summaries for DVL1 Gene

Entrez Gene Summary for DVL1 Gene

  • DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]

GeneCards Summary for DVL1 Gene

DVL1 (Dishevelled Segment Polarity Protein 1) is a Protein Coding gene. Diseases associated with DVL1 include Robinow Syndrome, Autosomal Dominant 2 and Autosomal Dominant Robinow Syndrome. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Transcription Androgen Receptor nuclear signaling. GO annotations related to this gene include identical protein binding and enzyme binding. An important paralog of this gene is DVL3.

UniProtKB/Swiss-Prot for DVL1 Gene

  • Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).

Gene Wiki entry for DVL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DVL1 Gene

Genomics for DVL1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for DVL1 Gene

Enhancers for DVL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G001019 1.7 FANTOM5 ENCODE dbSUPER 2 +328.6 328629 3.4 HDGF PKNOX1 ATF1 ARID4B SIN3A ZNF121 GLIS2 ELK1 ZNF207 KLF7 ENSG00000272512 AGRN PLEKHN1 C1orf159 UBE2J2 DVL1 CPTP ISG15 PUSL1 NOC2L
GH01G001428 1.8 FANTOM5 ENCODE dbSUPER 1.4 -83.0 -82954 8.2 HDGF FOXA2 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ATAD3C LINC01770 ANKRD65 ATAD3B VWA1 LOC100129381 RNF223 TMEM88B DVL1 NADK
GH01G001343 1.3 ENCODE dbSUPER 0.7 +2.4 2412 7.1 HDGF CREB3L1 MLX AGO1 SIN3A ARID4B DMAP1 ZNF766 ZNF143 ZNF207 ANKRD65 ATAD3B LINC01786 UBE2J2 MRPL20 TAS1R3 LINC01128 DVL1 MIR6808
GH01G001351 1.2 ENCODE dbSUPER 0.7 -3.6 -3635 3.0 AGO1 ZNF76 KLF17 ARID4B ZNF48 RARA GLIS2 THAP11 EGR2 ZNF263 ANKRD65 TAS1R3 GC01M001356 DVL1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DVL1 on UCSC Golden Path with GeneCards custom track

Promoters for DVL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000181 -350 3401 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF48 ZNF766 GLIS2 ELK1

Transcription factor binding sites by QIAGEN in the DVL1 gene promoter:

Genomic Location for DVL1 Gene

Chromosome:
1
Start:
1,335,276 bp from pter
End:
1,349,350 bp from pter
Size:
14,075 bases
Orientation:
Minus strand

Genomic View for DVL1 Gene

Genes around DVL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DVL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DVL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DVL1 Gene

Proteins for DVL1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DVL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14640-DVL1_HUMAN
    Recommended name:
    Segment polarity protein dishevelled homolog DVL-1
    Protein Accession:
    O14640
    Secondary Accessions:
    • Q5TA33
    • Q5TA35

    Protein attributes for DVL1 Gene

    Size:
    695 amino acids
    Molecular mass:
    75187 Da
    Quaternary structure:
    • Interacts with CXXC4. Interacts (via PDZ domain) with NXN (By similarity). Interacts with BRD7 and INVS. Interacts through its PDZ domain with the C-terminal regions of VANGL1, VANGL2 and CCDC88C/DAPLE. Interacts with ARRB1; the interaction is enhanced by phosphorylation of DVL1. Interacts with CYLD (By similarity). Interacts (via PDZ domain) with RYK. Self-associates (via DIX domain) and forms higher homooligomers. Interacts (via PDZ domain) with DACT1 and FZD7, where DACT1 and FZD7 compete for the same binding site (By similarity). Interacts (via DEP domain) with MUSK; the interaction is direct and mediates the formation a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering (By similarity). Interacts (via PDZ domain) with TMEM88. Interacts with DCDC2. Interacts with FOXK2 (PubMed:25805136).

    Alternative splice isoforms for DVL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DVL1 Gene

Protein Expression for DVL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DVL1 Gene

  • Ubiquitinated; undergoes both Lys-48-linked ubiquitination, leading to its subsequent degradation by the ubiquitin-proteasome pathway, and Lys-63-linked ubiquitination. The interaction with INVS is required for ubiquitination. Deubiquitinated by CYLD, which acts on Lys-63-linked ubiquitin chains (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DVL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DVL1 Gene

Domains & Families for DVL1 Gene

Gene Families for DVL1 Gene

HGNC:

Protein Domains for DVL1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DVL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14640

UniProtKB/Swiss-Prot:

DVL1_HUMAN :
  • The DIX domain promotes homooligomerization.
  • Belongs to the DSH family.
Domain:
  • The DIX domain promotes homooligomerization.
  • The DEP domain mediates interaction with the cell membrane.
Family:
  • Belongs to the DSH family.
genes like me logo Genes that share domains with DVL1: view

Function for DVL1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line
  7. Flow Cytometry

Molecular function for DVL1 Gene

GENATLAS Biochemistry:
Drosophila dishevelled segment polarity gene homolog 1,widely expressed,putatively involved in neural and heart development,activated in WNT signal transduction,frequently but not always deleted in the 1PDEL syndrome,most likely not contributing to the syndrome
UniProtKB/Swiss-Prot Function:
Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).

Gene Ontology (GO) - Molecular Function for DVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005109 frizzled binding IPI 19388021
GO:0005515 protein binding IPI 10330181
GO:0008013 beta-catenin binding IEA --
GO:0019899 enzyme binding IPI 15454084
genes like me logo Genes that share ontologies with DVL1: view
genes like me logo Genes that share phenotypes with DVL1: view

Human Phenotype Ontology for DVL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DVL1 Gene

MGI Knock Outs for DVL1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DVL1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DVL1 Gene

Localization for DVL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DVL1 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytosol. Cytoplasmic vesicle. Note=Localizes at the cell membrane upon interaction with frizzled family members. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DVL1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
cytoskeleton 3
extracellular 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IBA --
GO:0005874 microtubule IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with DVL1: view

Pathways & Interactions for DVL1 Gene

genes like me logo Genes that share pathways with DVL1: view

SIGNOR curated interactions for DVL1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DVL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001505 regulation of neurotransmitter levels ISS --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0006366 transcription from RNA polymerase II promoter IDA 11742073
genes like me logo Genes that share ontologies with DVL1: view

Drugs & Compounds for DVL1 Gene

Products:

  1. Drug

(2) Additional Compounds for DVL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DVL1: view

Transcripts for DVL1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for DVL1 Gene

(7) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(204) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DVL1 Gene

Dishevelled, dsh homolog 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DVL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DVL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^
SP1: - - - -
SP2: -
SP3: -
SP4: -
SP5: - - - - - - - - - - - - - - - -
SP6: -
SP7: -
SP8:
SP9: - -
SP10:

ExUns: 16 ^ 17a · 17b
SP1: -
SP2:
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for DVL1 Gene

GeneLoc Exon Structure for
DVL1
ECgene alternative splicing isoforms for
DVL1

Expression for DVL1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DVL1 Gene

mRNA expression in normal human tissues for DVL1 Gene
mRNA expression by BioGPS for DVL1 GenemRNA expression by GTEx for DVL1 Gene

mRNA differential expression in normal tissues according to GTEx for DVL1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DVL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DVL1 Gene:

DVL1

SOURCE GeneReport for Unigene cluster for DVL1 Gene:

Hs.731450

Evidence on tissue expression from TISSUES for DVL1 Gene

  • Nervous system(4.2)
  • Lung(3.3)
  • Intestine(2.7)
  • Muscle(2.6)
  • Kidney(2.2)
  • Pancreas(2.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DVL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DVL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DVL1 Gene

Orthologs for DVL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DVL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DVL1 34 35
  • 99.1 (n)
cow
(Bos Taurus)
 Mammalia DVL1 34 35
  • 89.35 (n)
dog
(Canis familiaris)
 Mammalia DVL1 35 34
  • 88.51 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Dvl1 34
  • 87.54 (n)
mouse
(Mus musculus)
 Mammalia Dvl1 34 16 35
  • 87.29 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia DVL1 35
  • 77 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia DVL1 35
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GGA.16412 35
  • 78 (a)
 OneToOne
DVL1 34
  • 73.72 (n)
lizard
(Anolis carolinensis)
 Reptilia DVL1 35
  • 77 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dvl1 34
  • 73.46 (n)
zebrafish
(Danio rerio)
 Actinopterygii DVL1 (3 of 3) 35
  • 87 (a)
 OneToMany
dvl1b 35 34
  • 67.23 (n)
 OneToMany
DVL1 (1 of 3) 35
  • 67 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta dsh 36 35
  • 64 (a)
worm
(Caenorhabditis elegans)
 Secernentea T05C12.6c 36
  • 29 (a)
dsh-2 35
  • 27 (a)
 ManyToMany
mig-5 35
  • 27 (a)
 ManyToMany
dsh-1 35
  • 24 (a)
 ManyToMany
Species where no ortholog for DVL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DVL1 Gene

ENSEMBL:
Gene Tree for DVL1 (if available)
TreeFam:
Gene Tree for DVL1 (if available)

Paralogs for DVL1 Gene

Paralogs for DVL1 Gene

(5) SIMAP similar genes for DVL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DVL1: view

Variants for DVL1 Gene

Sequence variations from dbSNP and Humsavar for DVL1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs797044833 Pathogenic 1,338,045(-) CCTGC(C/TT)CCCGC reference, frameshift-variant
rs797044834 Pathogenic 1,338,099(-) GCCCC(-/ACCCGGCTGCCCC)CTGGC reference, frameshift-variant
rs797044835 Pathogenic 1,338,097(-) CCCCC(-/T)GGCCT reference, frameshift-variant
rs797044836 Pathogenic 1,338,108(-) CCACC(-/C)GGCTG reference, frameshift-variant
rs797044837 Pathogenic 1,338,001(-) GCGGC(-/A)GCACC reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for DVL1 Gene

Variant ID Type Subtype PubMed ID
dgv11n106 CNV deletion 24896259
dgv26n54 CNV loss 21841781
dgv27n54 CNV gain 21841781
dgv28n54 CNV gain 21841781
dgv29n54 CNV loss 21841781
dgv2n67 CNV gain 20364138
dgv30n54 CNV gain 21841781
dgv6n100 CNV gain+loss 25217958
dgv7n100 CNV loss 25217958
esv2758912 CNV loss 17122850
esv3890636 CNV loss 25118596
nsv1000169 CNV gain 25217958
nsv1009541 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1074439 CNV deletion 25765185
nsv1160788 CNV deletion 26073780
nsv470680 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv544969 CNV loss 21841781
nsv544971 CNV loss 21841781
nsv544972 CNV loss 21841781
nsv544977 CNV gain+loss 21841781
nsv544991 CNV loss 21841781
nsv950452 CNV deletion 24416366
nsv997291 CNV gain 25217958

Variation tolerance for DVL1 Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DVL1 Gene

Human Gene Mutation Database (HGMD)
DVL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DVL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DVL1 Gene

Disorders for DVL1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DVL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
robinow syndrome, autosomal dominant 2
  • autosomal dominant robinow syndrome 2
autosomal dominant robinow syndrome
  • fetal face syndrome
charcot-marie-tooth disease type 2a
  • charcot marie tooth disease type 2a
robinow syndrome
  • acral dysostosis with facial and genital abnormalities
robinow syndrome, autosomal dominant 1
  • autosomal dominant robinow syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search DVL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DVL1_HUMAN
  • Robinow syndrome, autosomal dominant 2 (DRS2) [MIM:616331]: A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies. {ECO:0000269 PubMed:25817014, ECO:0000269 PubMed:25817016}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DVL1

Genetic Association Database (GAD)
DVL1
Human Genome Epidemiology (HuGE) Navigator
DVL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DVL1
genes like me logo Genes that share disorders with DVL1: view

No data available for Genatlas for DVL1 Gene

Publications for DVL1 Gene

  1. Identification of genomic organisation, sequence variants and analysis of the role of the human dishevelled 1 gene in late onset Alzheimer's disease. (PMID: 11803455) Russ C. … Powell J.F. (Mol. Psychiatry 2002) 3 22 46 64
  2. beta-Arrestin1 modulates lymphoid enhancer factor transcriptional activity through interaction with phosphorylated dishevelled proteins. (PMID: 11742073) Chen W. … Miller W.E. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 22 64
  3. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. (PMID: 25557784) Schueler M. … Hildebrandt F. (Am. J. Hum. Genet. 2015) 3 4 64
  4. Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome. (PMID: 25817014) Bunn K.J. … Robertson S.P. (Am. J. Hum. Genet. 2015) 3 4 64
  5. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome. (PMID: 25817016) White J. … Carvalho C.M. (Am. J. Hum. Genet. 2015) 3 4 64

Products for DVL1 Gene

  • Addgene plasmids for DVL1

Sources for DVL1 Gene

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