DOK7

GENERAL INFORMATION

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Gene name

DOK7

Gene description

Docking protein 7

Protein class

Disease related genes
Plasma proteins
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (fallopian tube, heart muscle)
GTEx:Tissue enhanced (heart muscle)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed moderate to strong cytoplasmic positivity. Lung, trophoblastic cells, lymphoid tissues, skin, soft tissues and smooth muscle cells were mostly negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA059449
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (fallopian tube, heart muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (heart muscle)

Organ

Expression



GENE INFORMATION

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Gene name

DOK7 (HGNC Symbol)

Synonyms

C4orf25, Dok-7, FLJ33718, FLJ39137

Description

Docking protein 7 (HGNC Symbol)

Entrez gene 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]

Chromosome

4

Cytoband

p16.3

Chromosome location (bp)

3463311 - 3501473

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000175920 (version 78.38)

Entrez gene

285489

UniProt

Q18PE1 (UniProt - Evidence at protein level)

neXtProt

NX_Q18PE1

Antibodypedia

DOK7 antibodies


PROTEIN BROWSER

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ENST00000340083
 
ENST00000507039
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DOK7-001 ENSP00000423614
ENST00000507039
Q18PE1
Show all »
Show » Show » 255 27.5 No 1
DOK7-002 ENSP00000344432
ENST00000340083
Q18PE1
Show all »
Show » Show » 504 53.1 No 1