DUSP2

dual specificity phosphatase 2, the group of MAP kinase phosphatases

Basic information

Region (hg38): 2:96143166-96145440

Links

ENSG00000158050 ∙ NCBI:1844 ∙ OMIM:603068 ∙ HGNC:3068 ∙ Uniprot:Q05923 ∙ 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 DUSP2 gene.

• not_specified (55 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004418.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			55			55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP2	protein_coding	protein_coding	ENST00000288943	4	2275

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000447	0.424	125729	0	8	125737	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0847	146	149	0.980	0.00000867	1924
Missense in Polyphen		75	75.989	0.98699		956
Synonymous	0.423	60	64.3	0.933	0.00000364	687
Loss of Function	0.307	7	7.93	0.882	3.38e-7	99

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000909	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000466	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2.
• Pathway: MAPK signaling pathway - Homo sapiens (human);EGF-Ncore;Endoderm Differentiation;MAPK Signaling Pathway;Signal Transduction;regulation of map kinase pathways through dual specificity phosphatases;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades (Consensus)

Recessive Scores

• pRec: 0.353

Haploinsufficiency Scores

• pHI: 0.291
• hipred: Y
• hipred_score: 0.645
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.969

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp2
• Phenotype: immune system phenotype; skeleton phenotype; hematopoietic system phenotype

Zebrafish Information Network

• Gene name: dusp2
• Affected structure: Mauthner neuron
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: inactivation of MAPK activity;protein dephosphorylation;peptidyl-tyrosine dephosphorylation
• Cellular component: nucleus;cytoplasm;nuclear membrane
• Molecular function: protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;protein tyrosine/threonine phosphatase activity;MAP kinase tyrosine/serine/threonine phosphatase activity;mitogen-activated protein kinase binding