U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    DOK7 docking protein 7 [ Homo sapiens (human) ]

    Gene ID: 285489, updated on 5-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DOK7 in Genome Data Viewer
    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_000004.12Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 12 Neighboring gene ribosomal protein L7a pseudogene 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3374529-3375457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3411075-3411982 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:3417810-3419009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3422145-3422646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3425913-3426412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3434795-3435296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3435297-3435796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3436172-3437070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3437071-3437969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3438515-3439015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15205 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3450782-3451585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3463811-3464658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3467576-3468185 Neighboring gene HGF activator Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3469405-3470012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3474943-3475654 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:3476364-3476557 Neighboring gene vegetative cell wall protein gp1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3481667-3482258 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:3482478-3483445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3483446-3484412 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:3486115-3487314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3487316-3488282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:3494329-3494850 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:3510576-3511775 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:3516456-3517655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3517921-3518540 Neighboring gene LDL receptor related protein associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3528991-3529881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:3529882-3530771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15208 Neighboring gene uncharacterized LOC124900650

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33718, FLJ39137, FLJ90556

    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

    Preferred Names
    protein Dok-7
    Names
    downstream of tyrosine kinase 7

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_013072.2 RefSeqGene

      Range
      5001..36177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_869

    mRNA and Protein(s)

    1. NM_001164673.2NP_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:6107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
      pfam00169
      Location:8108
      PH; PH domain
      cl17171
      Location:108174
      PH-like; Pleckstrin homology-like domain
    2. NM_001256896.2NP_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
    3. NM_001301071.2NP_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:108208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
    4. NM_001363811.2NP_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:633
      PH-like; Pleckstrin homology-like domain
    5. NM_173660.5NP_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:108208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6107
      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

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      3463306..3501482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      cd13165
      Location:108208
      PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
      cd14677
      Location:6107
      PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
    2. XM_047450078.1XP_047306034.1  protein Dok-7 isoform X2

    3. XM_047450079.1XP_047306035.1  protein Dok-7 isoform X3

    4. XM_047450080.1XP_047306036.1  protein Dok-7 isoform X4

    5. XM_047450081.1XP_047306037.1  protein Dok-7 isoform X5

      UniProtKB/TrEMBL
      A0A1W2PRA3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      3463090..3501240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349712.1XP_054205687.1  protein Dok-7 isoform X1

    2. XM_054349713.1XP_054205688.1  protein Dok-7 isoform X2

    3. XM_054349714.1XP_054205689.1  protein Dok-7 isoform X3