DUSP23

dual specificity phosphatase 23, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 1:159780932-159782543

Links

ENSG00000158716 ∙ NCBI:54935 ∙ OMIM:618361 ∙ HGNC:21480 ∙ Uniprot:Q9BVJ7 ∙ 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 DUSP23 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP23 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in DUSP23

This is a list of pathogenic ClinVar variants found in the DUSP23 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-159781113-C-T		not specified	Uncertain significance (Nov 19, 2024)
1-159781120-A-C		not specified	Uncertain significance (May 26, 2024)
1-159781134-C-A		not specified	Uncertain significance (Dec 14, 2023)
1-159781200-C-G		not specified	Uncertain significance (Oct 18, 2021)
1-159781207-T-A		not specified	Uncertain significance (May 14, 2024)
1-159781254-A-G		not specified	Uncertain significance (Jun 17, 2024)
1-159781266-C-G		not specified	Uncertain significance (Jul 06, 2021)
1-159781276-A-T		not specified	Uncertain significance (Mar 20, 2023)
1-159781277-C-A		not specified	Uncertain significance (Mar 14, 2023)
1-159781277-C-G		not specified	Uncertain significance (Mar 15, 2024)
1-159781299-T-C		not specified	Uncertain significance (Jan 17, 2023)
1-159781300-G-T		not specified	Uncertain significance (Jan 17, 2023)
1-159781302-C-T		not specified	Uncertain significance (Jan 17, 2023)
1-159781303-C-T		not specified	Uncertain significance (Apr 09, 2024)
1-159781339-T-G		not specified	Uncertain significance (Oct 24, 2024)
1-159781354-A-G		not specified	Uncertain significance (Sep 10, 2024)
1-159781359-C-T		not specified	Uncertain significance (Oct 04, 2024)
1-159781360-G-T		not specified	Uncertain significance (Nov 14, 2024)
1-159782181-T-G		not specified	Uncertain significance (Mar 29, 2022)
1-159782196-C-T		not specified	Uncertain significance (Jul 02, 2024)
1-159782226-G-A		not specified	Uncertain significance (Jun 11, 2021)
1-159782229-G-T		not specified	Uncertain significance (Sep 12, 2024)
1-159782249-A-G		not specified	Uncertain significance (Feb 21, 2024)
1-159782271-G-C		not specified	Uncertain significance (Jan 23, 2024)
1-159782322-A-G		not specified	Uncertain significance (Feb 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP23	protein_coding	protein_coding	ENST00000368107	2	1612

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000666	0.520	125744	0	3	125747	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.297	78	85.7	0.910	0.00000458	919
Missense in Polyphen		26	30.312	0.85775		312
Synonymous	-0.870	46	39.1	1.18	0.00000196	341
Loss of Function	0.304	5	5.79	0.864	5.31e-7	41

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues. In vitro, it can dephosphorylate p44-ERK1 (MAPK3) but not p54 SAPK-beta (MAPK10) in vitro. Able to enhance activation of JNK and p38 (MAPK14). {ECO:0000269|PubMed:15147733, ECO:0000269|PubMed:15201283}.

Recessive Scores

• pRec: 0.124

Haploinsufficiency Scores

• pHI: 0.188
• hipred: Y
• hipred_score: 0.679

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.942

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp23

Gene ontology

• Biological process: dephosphorylation;peptidyl-tyrosine dephosphorylation
• Cellular component: nucleoplasm;cytoplasm;cytosol
• Molecular function: protein serine/threonine phosphatase activity;protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;phosphatase activity