DUSP28

dual specificity phosphatase 28, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 2:240560054-240565256

Links

ENSG00000188542 ∙ NCBI:285193 ∙ ∙ HGNC:33237 ∙ Uniprot:Q4G0W2 ∙ 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 DUSP28 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP28 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						0
missense			36			36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	0	0

Variants in DUSP28

This is a list of pathogenic ClinVar variants found in the DUSP28 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-240560701-C-T		not specified	Uncertain significance (Aug 21, 2024)
2-240560703-G-A		not specified	Uncertain significance (Dec 19, 2022)
2-240560718-G-A		not specified	Uncertain significance (Dec 22, 2023)
2-240560722-C-T		not specified	Uncertain significance (Dec 27, 2022)
2-240560737-C-A		not specified	Uncertain significance (Oct 04, 2022)
2-240560754-C-A		not specified	Uncertain significance (May 17, 2023)
2-240560806-C-G		not specified	Uncertain significance (Jan 16, 2024)
2-240560817-G-C		not specified	Uncertain significance (Jan 16, 2025)
2-240560847-C-A		not specified	Uncertain significance (Jan 19, 2022)
2-240560862-G-A		not specified	Uncertain significance (Mar 15, 2024)
2-240560865-C-T		not specified	Uncertain significance (Oct 20, 2021)
2-240560892-G-A		not specified	Uncertain significance (Jul 05, 2023)
2-240560898-G-A		not specified	Uncertain significance (Dec 27, 2023)
2-240560901-G-C		not specified	Uncertain significance (Sep 12, 2024)
2-240560913-G-A		not specified	Uncertain significance (May 22, 2024)
2-240560920-T-C		not specified	Uncertain significance (Apr 11, 2023)
2-240560950-T-C		not specified	Uncertain significance (Jul 15, 2024)
2-240560951-G-A		not specified	Uncertain significance (Mar 07, 2025)
2-240560955-G-A		not specified	Uncertain significance (Dec 04, 2024)
2-240560999-C-G		not specified	Uncertain significance (Feb 05, 2025)
2-240561013-C-T		not specified	Uncertain significance (Jun 16, 2023)
2-240561018-G-A		not specified	Uncertain significance (Feb 04, 2025)
2-240561021-G-C		not specified	Uncertain significance (Dec 30, 2023)
2-240561025-G-A		not specified	Uncertain significance (Jul 25, 2023)
2-240561031-C-T		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP28	protein_coding	protein_coding	ENST00000405954	2	3961

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.180	0.657	125456	0	1	125457	0.00000399

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.05	105	78.7	1.33	0.00000365	1046
Missense in Polyphen		39	28.303	1.378		411
Synonymous	-0.913	43	36.0	1.19	0.00000182	389
Loss of Function	0.878	1	2.50	0.400	1.06e-7	39

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has phosphatase activity with the synthetic substrate 6,8-difluoro-4-methylumbelliferyl phosphate (in vitro) (PubMed:24531476, PubMed:29121083). Has almost no detectable activity with phosphotyrosine, even less activity with phosphothreonine and displays complete lack of activity with phosphoserine (PubMed:29121083). The poor activity with phosphotyrosine may be due to steric hindrance by bulky amino acid sidechains that obstruct access to the active site (PubMed:29121083). {ECO:0000269|PubMed:24531476, ECO:0000269|PubMed:29121083}.

Recessive Scores

• pRec: 0.128

Haploinsufficiency Scores

• pHI: 0.217
• hipred: N
• hipred_score: 0.292
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0817

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp28

Gene ontology

• Biological process: dephosphorylation;peptidyl-tyrosine dephosphorylation
• Molecular function: protein tyrosine phosphatase activity;protein tyrosine/serine/threonine phosphatase activity;phosphatase activity