DUSP12

dual specificity phosphatase 12, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 1:161749758-161757238

Links

ENSG00000081721 ∙ NCBI:11266 ∙ OMIM:604835 ∙ HGNC:3067 ∙ Uniprot:Q9UNI6 ∙ 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 DUSP12 gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007240.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			41	3		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP12	protein_coding	protein_coding	ENST00000367943	6	7481

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000139	0.965	125713	0	34	125747	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.580	169	192	0.882	0.00000894	2217
Missense in Polyphen		57	66.737	0.8541		821
Synonymous	0.604	63	69.4	0.908	0.00000310	652
Loss of Function	1.90	9	17.6	0.512	9.45e-7	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000661	0.000661
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000125	0.000123
Middle Eastern	0.000110	0.000109
South Asian	0.00	0.00
Other	0.000171	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Dual specificity phosphatase; can dephosphorylate both phosphotyrosine and phosphoserine or phosphothreonine residues. Can dephosphorylate glucokinase (in vitro) (By similarity). Has phosphatase activity with the synthetic substrate 6,8-difluoro-4- methylumbelliferyl phosphate and other in vitro substrates (PubMed:10446167, PubMed:24531476). {ECO:0000250|UniProtKB:Q9JIM4, ECO:0000269|PubMed:10446167, ECO:0000269|PubMed:24531476}.

Recessive Scores

• pRec: 0.172

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.57

Haploinsufficiency Scores

• pHI: 0.140
• hipred: N
• hipred_score: 0.331
• ghis: 0.603

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.940

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp12

Gene ontology

• Biological process: cellular protein modification process;protein dephosphorylation;dephosphorylation;positive regulation of glucokinase activity;peptidyl-tyrosine dephosphorylation
• Cellular component: nucleus;cytoplasm;cytosol
• Molecular function: nucleic acid binding;protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;zinc ion binding;phosphatase activity;kinase binding