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DOK2 docking protein 2 [ Homo sapiens (human) ]

Gene ID: 9046, updated on 23-Nov-2023

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
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Genomic context

See DOK2 in Genome Data Viewer
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_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986922 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21507398-21507984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21550331-21550831 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:21584471-21584972 Neighboring gene GDNF family receptor alpha 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21625596-21626586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21639775-21640276 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21683545-21684088 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21683000-21683544 Neighboring gene olfactory receptor family 6 subfamily R member 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21761370-21762198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21802075-21802708 Neighboring gene uncharacterized LOC124901903 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21806752-21807252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27071 Neighboring gene exportin 7 Neighboring gene VISTA enhancer hs783 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21867514-21868173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21868174-21868832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21880733-21881446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21881447-21882159 Neighboring gene small nucleolar RNA U13 Neighboring gene nucleophosmin/nucleoplasmin 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 
involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
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

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)

  1. NM_001317800.2NP_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:192
    PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)
  2. NM_001401272.1NP_001388201.1  docking protein 2 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC087363
    UniProtKB/TrEMBL
    B4DKQ6
  3. NM_003974.4NP_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:147246
    PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)
    cd14676
    Location:7114
    PH_DOK1,2,3; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 1, 2, and 3
  4. NM_201349.3NP_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:192
    PTB_DOK1_DOK2_DOK3; Downstream of tyrosine kinase 1, 2, and 3 proteins phosphotyrosine-binding domain (PTBi)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    21908873..21913690 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    22182868..22187684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)