DOK7 docking protein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DOK7provided by HGNC
Official Full Name: docking protein 7provided by HGNC
Primary source: HGNC:HGNC:26594
See related: Ensembl:ENSG00000175920 MIM:610285; AllianceGenome:HGNC:26594
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMS10; CMS1B; FADS3; C4orf25
Summary: The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Expression: Biased expression in heart (RPKM 3.1), testis (RPKM 1.0) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (3463306..3501482)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (3463090..3501240)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (3465033..3503209)

Chromosome 4 - NC_000004.12 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?

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Title: Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.
Title: Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Title: A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer.
Title: DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer.
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Title: Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
Hsa_Circ_0001947/MiR-661/DOK7 Axis Restrains Non-Small Cell Lung Cancer Development.
Title: Hsa_Circ_0001947/MiR-661/DOK7 Axis Restrains Non-Small Cell Lung Cancer Development.
Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
Title: Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
2 unrelated adult patients who presented with a limb-girdle congenital myasthenic syndrome, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*)
Title: Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations.
this study shows hypermethylation of DOK7 gene in DNA from patients affected with breast cancer
Title: Examination of methylation changes of VIM, CXCR4, DOK7, and SPDEF genes in peripheral blood DNA in breast cancer patients.
Data showed that DOK7 transcript variants 1 (DOK7V1) were decreased in lung cancer, and associated with poor overall survival and progressionfree survival. Its overexpression limited the proliferation and migration, but enhanced the adhesion to the extracellular matrix, of lung cancer cells. Further data indicate that DOK7V1 may inhibit proliferation and migration via negatively regulating the PI3K/AKT/mTOR signaling.
Title: DOK7V1 influences the malignant phenotype of lung cancer cells through PI3K/AKT/mTOR and FAK/paxillin signaling pathways.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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

Associated conditions

Description	Tests
Congenital myasthenic syndrome 10 MedGen: C1850792 OMIM: 254300 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Fetal akinesia deformation sequence 3 MedGen: C4760599 OMIM: 618389 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

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 lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in neuromuscular junction development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein Dok-7

Names: downstream of tyrosine kinase 7

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.

Genomic

NG_013072.2 RefSeqGene

Range

5001..36177

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_869

mRNA and Protein(s)

NM_001164673.2 → NP_001158145.1 protein Dok-7 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence and uses an alternate splice site in the central coding region compared to variant 4, that causes a frameshift. The encoded isoform (2) differs in the central region and has a shorter and distinct C-terminus compared to isoform 4.

Source sequence(s)

AK091037, BM684814, DA205628

Consensus CDS

CCDS54717.1

UniProtKB/Swiss-Prot

Q18PE1

Related

ENSP00000423614.1, ENST00000507039.5

Conserved Domains (3) summary

cd14677
Location:6 → 107

PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

pfam00169
Location:8 → 108

PH; PH domain

cl17171
Location:108 → 174

PH-like; Pleckstrin homology-like domain
NM_001256896.2 → NP_001243825.1 protein Dok-7 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate internal promoter and differs in the 3' UTR and coding sequence compared to variant 4. The encoded isoform (3) is significantly shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 4.

Source sequence(s)

AK091037, AK096456, BM684814, DA823926

Consensus CDS

CCDS87206.1

UniProtKB/TrEMBL

A0A1W2PRA3

Related

ENSP00000492194.1, ENST00000515886.5
NM_001301071.2 → NP_001288000.1 protein Dok-7 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) encodes the longest isoform (4).

Source sequence(s)

AK075037, AL590235, BC141852, DA205628

UniProtKB/Swiss-Prot

Q18PE1

Conserved Domains (2) summary

cd13165
Location:108 → 208

PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)

cd14677
Location:6 → 107

PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
NM_001363811.2 → NP_001350740.1 protein Dok-7 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two alternate exons compared to variant 4. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 4.

Source sequence(s)

AL590235

Consensus CDS

CCDS87205.1

UniProtKB/TrEMBL

A0A2R8Y701

Related

ENSP00000495701.1, ENST00000643608.1

Conserved Domains (1) summary

cl17171
Location:6 → 33

PH-like; Pleckstrin homology-like domain
NM_173660.5 → NP_775931.3 protein Dok-7 isoform 1

See identical proteins and their annotated locations for NP_775931.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 4. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 4.

Source sequence(s)

AK091037, BC141852, BM684814, DA205628

Consensus CDS

CCDS3370.2

UniProtKB/Swiss-Prot

A2A499, A2RRD4, E9PB56, Q18PE1, Q6P6A6, Q86XG5, Q8N2J3, Q8NBC1

Related

ENSP00000344432.5, ENST00000340083.6

Conserved Domains (2) summary

cd13165
Location:108 → 208

PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)

cd14677
Location:6 → 107

PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

3463306..3501482

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011513435.3 → XP_011511737.1 protein Dok-7 isoform X1

Conserved Domains (2) summary

cd13165
Location:108 → 208

PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)

cd14677
Location:6 → 107

PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
XM_047450078.1 → XP_047306034.1 protein Dok-7 isoform X2
XM_047450079.1 → XP_047306035.1 protein Dok-7 isoform X3
XM_047450080.1 → XP_047306036.1 protein Dok-7 isoform X4
XM_047450081.1 → XP_047306037.1 protein Dok-7 isoform X5

UniProtKB/TrEMBL

A0A1W2PRA3