DOK2 docking protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DOK2provided by HGNC
Official Full Name: docking protein 2provided by HGNC
Primary source: HGNC:HGNC:2991
See related: Ensembl:ENSG00000147443 MIM:604997; AllianceGenome:HGNC:2991
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p56DOK; p56dok-2
Summary: The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008]
Expression: Broad expression in spleen (RPKM 18.2), lung (RPKM 14.7) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (21908873..21913690, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22182868..22187684, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (21766384..21771201, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Introduction to DOK2 and its potential role in cancer.
Title: Introduction to DOK2 and its potential role in cancer.
Decreased DOK1/2 expressions associated with their promoter hypermethylations predict adverse prognosis in AML.
Title: Methylation-associated DOK1 and DOK2 down-regulation: Potential biomarkers for predicting adverse prognosis in acute myeloid leukemia.
DOK2 overexpression in different brain regions is associated with poor prognosis in astrocytoma clinical cases.
Title: Region-Specific Dok2 Overexpression Associates with Poor Prognosis in Human Astrocytoma.
In this report, the authors demonstrated that the cellular adaptor proteins Dok-2 and Dok-1 are tyrosine phosphorylated upon herpes simplex virus 1 infection. In addition, herpes simplex virus 1 induced the selective degradation of Dok-2. Finally, Dok-2 interacts with herpes simplex virus 1 VP11/12, and that herpes simplex virus 1-induced tyrosine phosphorylation and degradation of Dok-2 require VP11/12.
Title: Herpes simplex virus 1 infection of T cells causes VP11/12-dependent phosphorylation and degradation of the cellular protein Dok-2.
DOK2 and DOK3 expression was significantly reduced in HTLV-1-infected T cells.
Title: Expression of DOK1, 2, and 3 genes in HTLV-1-infected T cells.
point mutations in DOK1 and DOK2 genes are detected with low frequency in chronic myelomonocytic leukemia but may have consequences for the function of the DOK2 PTB domain
Title: Mutational analysis of the DOK2 haploinsufficient tumor suppressor gene in chronic myelomonocytic leukemia (CMML).
Taken together, these results reveal that Dok1 and Dok2 proteins are involved in an intrinsic negative feedback loop downstream of natural killer-cell-activating receptors in mouse and human.
Title: Dok1 and Dok2 proteins regulate natural killer cell development and function.
DOK2 as a tumor suppressor in EGFR-mutant lung adenocarcinoma
Title: DOK2 inhibits EGFR-mutated lung adenocarcinoma.
DOK2 is a marker of poor prognosis in patients with gastric cancer after curative resection
Title: DOK2 as a marker of poor prognosis of patients with gastric adenocarcinoma after curative resection.
Data indicate there was no evidence of DOK2 somatic mutation in the leukemias analyzed.
Title: Mutational analysis of DOK2 tumor suppressor gene in acute leukemias.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study suggests an association of Chr8p21.3 (GFRA2) with diabetic neuropathic pain. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase adaptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: docking protein 2

Names: docking protein 2, 56kD; docking protein 2, 56kDa; downstream of tyrosine kinase 2; p56(dok-2)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317800.2 → NP_001304729.1 docking protein 2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AK226110, DC295259

UniProtKB/TrEMBL

B4DKQ6

Conserved Domains (1) summary

cd01203
Location:1 → 92

PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)
NM_001401272.1 → NP_001388201.1 docking protein 2 isoform c

Status: VALIDATED

Source sequence(s)

AC087363
NM_003974.4 → NP_003965.2 docking protein 2 isoform a

See identical proteins and their annotated locations for NP_003965.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AK226110, BC032623, DC295259

Consensus CDS

CCDS6016.1

UniProtKB/Swiss-Prot

O60496, Q8N5A4

UniProtKB/TrEMBL

A8K7W1

Related

ENSP00000276420.4, ENST00000276420.9

Conserved Domains (2) summary

cd01203
Location:147 → 246

PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)

cd14676
Location:7 → 114

PH_DOK1,2,3; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 1, 2, and 3
NM_201349.3 → NP_958728.1 docking protein 2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AK226110, AK296671

UniProtKB/TrEMBL

B4DKQ6

Conserved Domains (1) summary

cd01203
Location:1 → 92

PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)