Seroatlas · Human Serome Atlas

DOCK7

Dedicator of cytokinesis protein 7

Also known as: DOCK7_HUMAN, KIAA1771, ZIR2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96N67
Gene
DOCK7
Ensembl
ENSG00000116641
Chromosome
1
Canonical length
2140 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

2140 residues, UniProt reviewed canonical sequence.

>Q96N67|DOCK7
     1  MAERRAFAQK ISRTVAAEVR KQISGQYSGS PQLLKNLNIV GNISHHTTVP LTEAVDPVDL
    61  EDYLITHPLA VDSGPLRDLI EFPPDDIEVV YSPRDCRTLV SAVPEESEMD PHVRDCIRSY
   121  TEDWAIVIRK YHKLGTGFNP NTLDKQKERQ KGLPKQVFES DEAPDGNSYQ DDQDDLKRRS
   181  MSIDDTPRGS WACSIFDLKN SLPDALLPNL LDRTPNEEID RQNDDQRKSN RHKELFALHP
   241  SPDEEEPIER LSVPDIPKEH FGQRLLVKCL SLKFEIEIEP IFASLALYDV KEKKKISENF
   301  YFDLNSEQMK GLLRPHVPPA AITTLARSAI FSITYPSQDV FLVIKLEKVL QQGDIGECAE
   361  PYMIFKEADA TKNKEKLEKL KSQADQFCQR LGKYRMPFAW TAIHLMNIVS SAGSLERDST
   421  EVEISTGERK GSWSERRNSS IVGRRSLERT TSGDDACNLT SFRPATLTVT NFFKQEGDRL
   481  SDEDLYKFLA DMRRPSSVLR RLRPITAQLK IDISPAPENP HYCLTPELLQ VKLYPDSRVR
   541  PTREILEFPA RDVYVPNTTY RNLLYIYPQS LNFANRQGSA RNITVKVQFM YGEDPSNAMP
   601  VIFGKSSCSE FSKEAYTAVV YHNRSPDFHE EIKVKLPATL TDHHHLLFTF YHVSCQQKQN
   661  TPLETPVGYT WIPMLQNGRL KTGQFCLPVS LEKPPQAYSV LSPEVPLPGM KWVDNHKGVF
   721  NVEVVAVSSI HTQDPYLDKF FALVNALDEH LFPVRIGDMR IMENNLENEL KSSISALNSS
   781  QLEPVVRFLH LLLDKLILLV IRPPVIAGQI VNLGQASFEA MASIINRLHK NLEGNHDQHG
   841  RNSLLASYIH YVFRLPNTYP NSSSPGPGGL GGSVHYATMA RSAVRPASLN LNRSRSLSNS
   901  NPDISGTPTS PDDEVRSIIG SKGLDRSNSW VNTGGPKAAP WGSNPSPSAE STQAMDRSCN
   961  RMSSHTETSS FLQTLTGRLP TKKLFHEELA LQWVVCSGSV RESALQQAWF FFELMVKSMV
  1021  HHLYFNDKLE APRKSRFPER FMDDIAALVS TIASDIVSRF QKDTEMVERL NTSLAFFLND
  1081  LLSVMDRGFV FSLIKSCYKQ VSSKLYSLPN PSVLVSLRLD FLRIICSHEH YVTLNLPCSL
  1141  LTPPASPSPS VSSATSQSSG FSTNVQDQKI ANMFELSVPF RQQHYLAGLV LTELAVILDP
  1201  DAEGLFGLHK KVINMVHNLL SSHDSDPRYS DPQIKARVAM LYLPLIGIIM ETVPQLYDFT
  1261  ETHNQRGRPI CIATDDYESE SGSMISQTVA MAIAGTSVPQ LTRPGSFLLT STSGRQHTTF
  1321  SAESSRSLLI CLLWVLKNAD ETVLQKWFTD LSVLQLNRLL DLLYLCVSCF EYKGKKVFER
  1381  MNSLTFKKSK DMRAKLEEAI LGSIGARQEM VRRSRGQLGT YTIASPPERS PSGSAFGSQE
  1441  NLRWRKDMTH WRQNTEKLDK SRAEIEHEAL IDGNLATEAN LIILDTLEIV VQTVSVTESK
  1501  ESILGGVLKV LLHSMACNQS AVYLQHCFAT QRALVSKFPE LLFEEETEQC ADLCLRLLRH
  1561  CSSSIGTIRS HASASLYLLM RQNFEIGNNF ARVKMQVTMS LSSLVGTSQN FNEEFLRRSL
  1621  KTILTYAEED LELRETTFPD QVQDLVFNLH MILSDTVKMK EHQEDPEMLI DLMYRIAKGY
  1681  QTSPDLRLTW LQNMAGKHSE RSNHAEAAQC LVHSAALVAE YLSMLEDRKY LPVGCVTFQN
  1741  ISSNVLEESA VSDDVVSPDE EGICSGKYFT ESGLVGLLEQ AAASFSMAGM YEAVNEVYKV
  1801  LIPIHEANRD AKKLSTIHGK LQEAFSKIVH QSTGWERMFG TYFRVGFYGT KFGDLDEQEF
  1861  VYKEPAITKL AEISHRLEGF YGERFGEDVV EVIKDSNPVD KCKLDPNKAY IQITYVEPYF
  1921  DTYEMKDRIT YFDKNYNLRR FMYCTPFTLD GRAHGELHEQ FKRKTILTTS HAFPYIKTRV
  1981  NVTHKEEIIL TPIEVAIEDM QKKTQELAFA THQDPADPKM LQMVLQGSVG TTVNQGPLEV
  2041  AQVFLSEIPS DPKLFRHHNK LRLCFKDFTK RCEDALRKNK SLIGPDQKEY QRELERNYHR
  2101  LKEALQPLIN RKIPQLYKAV LPVTCHRDSF SRMSLRKMDL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DOCK7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
15 nTPM

Expression across tissuesHPA

Tissue

  • testis: 15 nTPM
  • basal ganglia: 14 nTPM
  • parathyroid gland: 13 nTPM
  • ovary: 13 nTPM
  • blood vessel: 12 nTPM
  • retina: 12 nTPM

Single-cell type

  • retinal pigment epithelial cells: 695 nCPM
  • astrocytes: 532 nCPM
  • ependymal cells: 349 nCPM
  • pituitary stem cells: 310 nCPM
  • sertoli cells: 294 nCPM
  • renal connecting tubule cells: 262 nCPM

Immune cell

  • myeloid DC: 1.4 nTPM
  • intermediate monocyte: 0.7 nTPM
  • MAIT T-cell: 0.6 nTPM
  • memory B-cell: 0.5 nTPM
  • classical monocyte: 0.4 nTPM
  • memory CD8 T-cell: 0.4 nTPM

Brain region

  • white matter: 34 nTPM
  • hypothalamus: 33 nTPM
  • basal ganglia: 32 nTPM
  • spinal cord: 31 nTPM
  • medulla oblongata: 29 nTPM
  • midbrain: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DOCK7.

Disease | AllUniProt

Conditions DOCK7 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 23 (DEE23) MIM:615859

Disease | GeneticClinVar

98 pathogenic / likely-pathogenic of 1,884 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.38
gnomAD pLI
0
gnomAD missense Z
3.42
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DOCK7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DOCK7 as an antibody target. Whether an autoantibody or antibody against DOCK7 could matter depends on whether native DOCK7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DOCK7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DOCK7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DOCK7. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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