DUSP26

dual specificity phosphatase 26, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 8:33591330-33600023

Links

ENSG00000133878

∙ NCBI:78986 ∙ OMIM:618368 ∙ HGNC:28161 ∙ Uniprot:Q9BV47 ∙ 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 DUSP26 gene.

not_specified (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP26 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024025.3. 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						0
missense			21 clinvar	1 clinvar		22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	21	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP26	protein_coding	protein_coding	ENST00000256261	3	8769

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000230	0.767	125720	0	26	125746	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	107	149	0.720	0.0000102	1356
Missense in Polyphen		40	64.018	0.62483		622
Synonymous	0.838	50	58.1	0.860	0.00000357	459
Loss of Function	1.05	7	10.7	0.653	8.42e-7	79

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	0.000648	0.000647
European (Non-Finnish)	0.0000715	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000983	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Inactivates MAPK1 and MAPK3 which leads to dephosphorylation of heat shock factor protein 4 and a reduction in its DNA-binding activity. Inhibits MAP kinase p38 by dephosphorylating it and inhibits p38-mediated apoptosis in anaplastic thyroid cancer cells. Can also induce activation of MAP kinase p38 and c-Jun N-terminal kinase (JNK). {ECO:0000269|PubMed:15796912, ECO:0000269|PubMed:16581800, ECO:0000269|PubMed:16924234, ECO:0000269|PubMed:17001450}.;

Recessive Scores

pRec: 0.122

Intolerance Scores

loftool: 0.443
rvis_EVS: -0.29
rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

pHI: 0.202
hipred: N
hipred_score: 0.439
ghis: 0.580

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.838

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dusp26
Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype;

Zebrafish Information Network

Gene name: dusp26
Affected structure: cranial motor neuron
Phenotype tag: abnormal
Phenotype quality: decreased length

Gene ontology

Biological process: negative regulation of transcription by RNA polymerase II;protein dephosphorylation;peptidyl-tyrosine dephosphorylation;negative regulation of protein kinase activity by regulation of protein phosphorylation;positive regulation of cell adhesion;negative regulation of ERK1 and ERK2 cascade;positive regulation of peptidyl-serine dephosphorylation
Cellular component: nucleus;cytoplasm;Golgi apparatus;extracellular exosome
Molecular function: RNA polymerase II activating transcription factor binding;p53 binding;phosphoserine phosphatase activity;phosphoprotein phosphatase activity;protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity