DUSP5

dual specificity phosphatase 5, the group of MAP kinase phosphatases

Basic information

Region (hg38): 10:110497907-110511533

Links

ENSG00000138166

∙ NCBI:1847 ∙ OMIM:603069 ∙ HGNC:3071 ∙ Uniprot:Q16690 ∙ 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 DUSP5 gene.

not_specified (54 variants)
not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004419.4. 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				1 clinvar	1 clinvar	2
missense			55 clinvar		1 clinvar	56
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	1	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP5	protein_coding	protein_coding	ENST00000369583	4	13707

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00332	0.954	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.694	182	210	0.865	0.0000108	2410
Missense in Polyphen		35	56.807	0.61612		677
Synonymous	-0.559	102	95.1	1.07	0.00000535	811
Loss of Function	1.77	6	12.9	0.466	5.46e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000528	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Dual specificity protein phosphatase; active with phosphotyrosine, phosphoserine and phosphothreonine residues. The highest relative activity is toward ERK1. {ECO:0000269|PubMed:7961985}.;
Pathway: MAPK signaling pathway - Homo sapiens (human);EGF-Ncore;Endoderm Differentiation;Signal Transduction;ATF-2 transcription factor network;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;Direct p53 effectors (Consensus)

Recessive Scores

pRec: 0.252

Intolerance Scores

loftool: 0.375
rvis_EVS: 1.37
rvis_percentile_EVS: 94.52

Haploinsufficiency Scores

pHI: 0.383
hipred: Y
hipred_score: 0.800
ghis: 0.413

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.982

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dusp5
Phenotype: homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; neoplasm; immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: MAPK cascade;activation of MAPK activity;inactivation of MAPK activity;protein dephosphorylation;dephosphorylation;peptidyl-tyrosine dephosphorylation;peptidyl-threonine dephosphorylation
Cellular component: nucleus;nucleoplasm;cytoplasm
Molecular function: protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;phosphatase activity;MAP kinase tyrosine/serine/threonine phosphatase activity