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.

not_specified (15 variants)
DUSP22-related_disorder (14 variants)
not_provided (2 variants)

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. These statistics are base on transcript: NM_001286555.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				9 clinvar		9
missense			15 clinvar	4 clinvar		19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	15	13	0

Loading clinvar variants...

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
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