DACT2

dishevelled binding antagonist of beta catenin 2, the group of dishevelled binding antagonist of beta catenin family

Basic information

Region (hg38): 6:168292830-168319777

Previous symbols: [ "C6orf116" ]

Links

ENSG00000164488NCBI:168002OMIM:608966HGNC:21231Uniprot:Q5SW24AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DACT2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DACT2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
2
clinvar
1
clinvar
3
missense
79
clinvar
10
clinvar
89
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
2
clinvar
2
Total 0 0 81 12 1

Variants in DACT2

This is a list of pathogenic ClinVar variants found in the DACT2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
6-168307512-G-A not specified Uncertain significance (Dec 02, 2024)3499586
6-168307583-G-A not specified Uncertain significance (May 21, 2024)2259186
6-168307583-G-T not specified Uncertain significance (Dec 12, 2023)2381932
6-168307590-C-T not specified Uncertain significance (Jan 09, 2025)2234461
6-168307595-G-A not specified Uncertain significance (Mar 07, 2025)3838168
6-168307620-A-G not specified Uncertain significance (Jul 28, 2021)2239832
6-168307635-C-T not specified Uncertain significance (Sep 26, 2023)3079966
6-168307636-G-A Benign (Aug 14, 2017)769702
6-168307647-C-T not specified Uncertain significance (May 30, 2023)2552883
6-168307668-G-C not specified Uncertain significance (May 31, 2024)3270809
6-168307674-C-T not specified Uncertain significance (Dec 11, 2023)3079965
6-168307700-G-T not specified Uncertain significance (Nov 09, 2021)2225115
6-168307707-C-T not specified Uncertain significance (May 10, 2024)3270816
6-168307710-C-T not specified Uncertain significance (May 13, 2022)2223648
6-168307740-G-A not specified Uncertain significance (Dec 17, 2024)2224751
6-168307748-C-T not specified Uncertain significance (Jan 29, 2025)3838163
6-168307752-C-T not specified Uncertain significance (Jan 01, 2025)3838162
6-168307787-G-A not specified Uncertain significance (Aug 10, 2021)2399394
6-168307787-G-T not specified Uncertain significance (Mar 21, 2023)2508680
6-168307788-T-C not specified Likely benign (Mar 06, 2023)2494019
6-168307854-C-T not specified Likely benign (Jan 29, 2024)3079963
6-168307860-T-C not specified Uncertain significance (Jan 30, 2024)3079962
6-168307899-G-A not specified Uncertain significance (Feb 11, 2025)3838159
6-168307938-G-A not specified Uncertain significance (Dec 15, 2022)2203793
6-168307972-C-T Likely benign (Nov 01, 2024)2657141

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DACT2protein_codingprotein_codingENST00000366795 426925
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.009400.82700000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.403404210.8080.00002664855
Missense in Polyphen95117.850.806131567
Synonymous2.251561960.7960.00001381713
Loss of Function1.1147.220.5543.10e-7115

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in regulation of intracellular signaling pathways during development. Negatively regulates the Nodal signaling pathway, possibly by promoting the lysosomal degradation of Nodal receptors, such as TGFBR1. May be involved in control of the morphogenetic behavior of kidney ureteric bud cells by keeping cells epithelial and restraining their mesenchymal character. May play an inhibitory role in the re-epithelialization of skin wounds by attenuating TGF-beta signaling (By similarity). {ECO:0000250}.;
Pathway
Vitamin D Receptor Pathway;TGF-beta receptor signaling (Consensus)

Recessive Scores

pRec
0.118

Intolerance Scores

loftool
rvis_EVS
1.28
rvis_percentile_EVS
93.77

Haploinsufficiency Scores

pHI
0.200
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0602

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dact2
Phenotype
cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; hematopoietic system phenotype;

Zebrafish Information Network

Gene name
dact2
Affected structure
whole organism
Phenotype tag
abnormal
Phenotype quality
decreased size

Gene ontology

Biological process
epithelial cell morphogenesis;negative regulation of cell adhesion;regulation of Wnt signaling pathway;skin development;inner medullary collecting duct development;negative regulation of nodal signaling pathway
Cellular component
cytoplasm
Molecular function
protein kinase C binding;beta-catenin binding;transcription factor binding;protein kinase A binding;delta-catenin binding