DUSP22

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

Basic information

Region (hg38): 6:291630-351355

Links

ENSG00000112679 ∙ NCBI:56940 ∙ OMIM:616778 ∙ HGNC:16077 ∙ Uniprot:Q9NRW4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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	2	10
missense			5	4		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	1	3
non coding				3		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)
6-292558-A-C		not specified	Uncertain significance (Jun 10, 2022)
6-304650-G-A		not specified	Uncertain significance (Jun 22, 2023)
6-311873-C-CT		DUSP22-related disorder	Likely benign (Sep 20, 2019)
6-311893-G-A		DUSP22-related disorder	Likely benign (Mar 06, 2023)
6-311907-A-G		not specified	Uncertain significance (Aug 26, 2024)
6-311937-A-G		not specified	Uncertain significance (May 13, 2024)
6-335128-G-A		DUSP22-related disorder	Likely benign (Mar 17, 2023)
6-335143-G-A		DUSP22-related disorder	Likely benign (Sep 30, 2021)
6-345850-C-T		DUSP22-related disorder	Likely benign (Jan 20, 2023)
6-345890-C-T		DUSP22-related disorder	Likely benign (Jul 11, 2019)
6-345925-A-G		not specified	Uncertain significance (Feb 22, 2023)
6-348096-C-T			Benign (Mar 13, 2018)
6-348124-C-T		DUSP22-related disorder	Likely benign (Sep 25, 2019)
6-348150-T-C		not specified	Uncertain significance (Nov 19, 2024)
6-348154-C-T		DUSP22-related disorder	Likely benign (Oct 10, 2019)
6-348155-G-A		DUSP22-related disorder	Likely benign (Jun 13, 2022)
6-348177-A-G		not specified	Uncertain significance (Nov 08, 2024)
6-348223-C-T			Likely benign (Sep 01, 2024)
6-348266-G-A		DUSP22-related disorder	Likely benign (Dec 20, 2023)
6-348803-G-A		not specified	Uncertain significance (May 15, 2024)
6-348810-G-T		DUSP22-related disorder	Likely benign (Sep 28, 2021)
6-348906-G-A		DUSP22-related disorder	Benign (Feb 03, 2021)
6-348917-C-T		DUSP22-related disorder	Likely benign (Aug 19, 2020)
6-348927-C-T		DUSP22-related disorder	Likely benign (Aug 10, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP22	protein_coding	protein_coding	ENST00000344450	8	59726

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00934	0.944	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.451	84	96.5	0.871	0.00000538	1134
Missense in Polyphen		35	37.374	0.93649		453
Synonymous	-0.120	37	36.1	1.03	0.00000227	299
Loss of Function	1.73	5	11.3	0.444	4.76e-7	139

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000149	0.000149
Middle Eastern	0.000109	0.000109
South Asian	0.000229	0.000229
Other	0.000327	0.000326

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dusp22

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