DOK2

docking protein 2

Basic information

Region (hg38): 8:21908873-21913690

Links

ENSG00000147443 ∙ NCBI:9046 ∙ OMIM:604997 ∙ HGNC:2991 ∙ Uniprot:O60496 ∙ 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 DOK2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DOK2 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			36		2	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	0	2

Variants in DOK2

This is a list of pathogenic ClinVar variants found in the DOK2 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-21909367-C-T		not specified	Uncertain significance (Jan 23, 2024)
8-21909370-A-C			Benign (Jan 18, 2019)
8-21909375-G-C		not specified	Uncertain significance (Aug 02, 2021)
8-21909382-C-A		not specified	Uncertain significance (Oct 28, 2023)
8-21909435-G-A		not specified	Uncertain significance (Apr 04, 2024)
8-21909444-C-T		not specified	Uncertain significance (Sep 14, 2023)
8-21909484-G-A		not specified	Uncertain significance (Apr 25, 2022)
8-21909505-C-T		not specified	Uncertain significance (Jan 29, 2024)
8-21909510-T-C		not specified	Uncertain significance (Dec 19, 2022)
8-21909516-T-C		not specified	Uncertain significance (Feb 05, 2024)
8-21909534-G-C		not specified	Uncertain significance (Aug 10, 2021)
8-21909583-G-C		not specified	Uncertain significance (May 25, 2022)
8-21909641-G-C		not specified	Uncertain significance (Sep 07, 2022)
8-21909682-G-T		not specified	Uncertain significance (Apr 22, 2022)
8-21909714-G-A		not specified	Uncertain significance (Jan 24, 2024)
8-21909720-G-A		not specified	Uncertain significance (Jan 23, 2023)
8-21909726-T-C		not specified	Uncertain significance (Dec 21, 2022)
8-21909732-C-T		not specified	Uncertain significance (Dec 05, 2022)
8-21909733-G-A		not specified	Uncertain significance (Nov 17, 2022)
8-21909744-C-A		not specified	Uncertain significance (Nov 17, 2022)
8-21909757-G-A		not specified	Uncertain significance (Jun 29, 2023)
8-21909762-G-A		not specified	Uncertain significance (Jul 30, 2023)
8-21909768-G-A		not specified	Uncertain significance (Oct 02, 2023)
8-21909772-T-C		not specified	Likely benign (Apr 15, 2024)
8-21909786-G-A		not specified	Uncertain significance (Jan 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DOK2	protein_coding	protein_coding	ENST00000276420	5	4988

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000121	0.836	125506	2	232	125740	0.000931

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.864	306	266	1.15	0.0000183	2573
Missense in Polyphen		111	90.853	1.2218		856
Synonymous	-0.909	124	112	1.11	0.00000757	875
Loss of Function	1.36	10	15.8	0.631	8.25e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00107	0.00106
Ashkenazi Jewish	0.0159	0.0136
East Asian	0.000331	0.000326
Finnish	0.000108	0.0000924
European (Non-Finnish)	0.000441	0.000413
Middle Eastern	0.000331	0.000326
South Asian	0.000131	0.000131
Other	0.000882	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK2 may modulate the cellular proliferation induced by IL-4, as well as IL-2 and IL-3. May be involved in modulating Bcr-Abl signaling. Attenuates EGF-stimulated MAP kinase activation (By similarity). {ECO:0000250}.
• Pathway: Angiogenesis overview;Rac1-Pak1-p38-MMP-2 pathway;IL-4 Signaling Pathway;EGF-EGFR Signaling Pathway;Developmental Biology;TCR;Fibroblast growth factor-1;EGFR1;Tie2 Signaling;Cell surface interactions at the vascular wall;Hemostasis;IL2-mediated signaling events;Angiopoietin receptor Tie2-mediated signaling;IL4;RET signaling;Axon guidance;IL4-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.154

Intolerance Scores

• loftool: 0.466
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.73

Haploinsufficiency Scores

• pHI: 0.0796
• hipred: N
• hipred_score: 0.314
• ghis: 0.523

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.794

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dok2
• Phenotype: endocrine/exocrine gland phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype; respiratory system phenotype; neoplasm

Gene ontology

• Biological process: signal transduction;cell surface receptor signaling pathway;transmembrane receptor protein tyrosine kinase signaling pathway;Ras protein signal transduction;axon guidance;leukocyte migration
• Cellular component: cytosol
• Molecular function: transmembrane receptor protein tyrosine kinase adaptor activity;protein binding