DUSP22

dual specificity phosphatase 22, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 6:291630-351355

Links

ENSG00000112679NCBI:56940OMIM:616778HGNC:16077Uniprot:Q9NRW4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DUSP22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP22 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
8
clinvar
2
clinvar
10
missense
5
clinvar
4
clinvar
9
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
2
1
3
non coding
3
clinvar
3
Total 0 0 5 15 2

Variants in DUSP22

This is a list of pathogenic ClinVar variants found in the DUSP22 region.

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

Position Type Phenotype Significance ClinVar
6-292535-C-T DUSP22-related disorder Likely benign (Mar 08, 2022)3051817
6-292558-A-C not specified Uncertain significance (Jun 10, 2022)2295262
6-304650-G-A not specified Uncertain significance (Jun 22, 2023)2605436
6-311873-C-CT DUSP22-related disorder Likely benign (Sep 20, 2019)3040278
6-311893-G-A DUSP22-related disorder Likely benign (Mar 06, 2023)3032831
6-311907-A-G not specified Uncertain significance (Aug 26, 2024)3505874
6-311937-A-G not specified Uncertain significance (May 13, 2024)3274061
6-335128-G-A DUSP22-related disorder Likely benign (Mar 17, 2023)3052547
6-335143-G-A DUSP22-related disorder Likely benign (Sep 30, 2021)3054593
6-345850-C-T DUSP22-related disorder Likely benign (Jan 20, 2023)3035996
6-345890-C-T DUSP22-related disorder Likely benign (Jul 11, 2019)3041169
6-345925-A-G not specified Uncertain significance (Feb 22, 2023)2464150
6-348096-C-T Benign (Mar 13, 2018)780116
6-348124-C-T DUSP22-related disorder Likely benign (Sep 25, 2019)3037645
6-348150-T-C not specified Uncertain significance (Nov 19, 2024)3505876
6-348154-C-T DUSP22-related disorder Likely benign (Oct 10, 2019)3039993
6-348155-G-A DUSP22-related disorder Likely benign (Jun 13, 2022)3035033
6-348177-A-G not specified Uncertain significance (Nov 08, 2024)3505872
6-348223-C-T Likely benign (Sep 01, 2024)3388479
6-348266-G-A DUSP22-related disorder Likely benign (Dec 20, 2023)3049760
6-348803-G-A not specified Uncertain significance (May 15, 2024)3274059
6-348810-G-T DUSP22-related disorder Likely benign (Sep 28, 2021)3039128
6-348906-G-A DUSP22-related disorder Benign (Feb 03, 2021)3059480
6-348917-C-T DUSP22-related disorder Likely benign (Aug 19, 2020)3042277
6-348927-C-T DUSP22-related disorder Likely benign (Aug 10, 2019)3034895

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DUSP22protein_codingprotein_codingENST00000344450 859726
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.009340.9441257170311257480.000123
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4518496.50.8710.000005381134
Missense in Polyphen3537.3740.93649453
Synonymous-0.1203736.11.030.00000227299
Loss of Function1.73511.30.4444.76e-7139

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001520.000152
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.0001490.000149
Middle Eastern0.0001090.000109
South Asian0.0002290.000229
Other0.0003270.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Activates the Jnk signaling pathway. Dephosphorylates and deactivates p38 and stress-activated protein kinase/c-Jun N- terminal kinase (SAPK/JNK) (By similarity). {ECO:0000250, ECO:0000269|PubMed:11717427}.;
Pathway
EGF-Ncore (Consensus)

Recessive Scores

pRec
0.158

Intolerance Scores

loftool
0.277
rvis_EVS
0.28
rvis_percentile_EVS
71.41

Haploinsufficiency Scores

pHI
0.197
hipred
Y
hipred_score
0.692
ghis
0.505

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
1.00

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dusp22
Phenotype

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;inactivation of MAPK activity;negative regulation of T cell mediated immunity;protein dephosphorylation;apoptotic process;transforming growth factor beta receptor signaling pathway;multicellular organism development;cell population proliferation;negative regulation of cell migration;peptidyl-tyrosine dephosphorylation;regulation of cell population proliferation;positive regulation of JNK cascade;negative regulation of T cell receptor signaling pathway;negative regulation of T cell activation;negative regulation of focal adhesion assembly;cellular response to epidermal growth factor stimulus;negative regulation of non-membrane spanning protein tyrosine kinase activity
Cellular component
nucleus;cytoplasm;cytosol;plasma membrane;filamentous actin;leading edge of lamellipodium
Molecular function
protein tyrosine phosphatase activity;non-membrane spanning protein tyrosine phosphatase activity;protein tyrosine/serine/threonine phosphatase activity;protein tyrosine kinase binding