• Gene id: 81704

Gene Summary

• Gene Symbol: DOCK8   Gene   UCSC   Ensembl
• Aliases: HEL-205, MRD2, ZIR8
• Gene name: dedicator of cytokinesis 8
• Alternate names: dedicator of cytokinesis protein 8, 1200017A24Rik, epididymis luminal protein 205,
• Gene location: 9p24.3 (211295: 465259)     Exons: 54     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal r
• OMIM: 611432

Protein Summary

• Protein general information: Q8NF50  
  • Name: Dedicator of cytokinesis protein 8
  • Length: 2099  
  • Mass: 238529
  • Tissue specificity: Expressed in peripheral blood mononuclear cells (PBMCs). {ECO
• Sequence:

  MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQLPQFYDPVEPVDFEGLLMTHLNSL
  DVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRDCVQTYIREWLIVNRKNQGSPEICGFKKTGS
  RKDFHKTLPKQTFESETLECSEPAAQAGPRHLNVLCDVSGKGPVTACDFDLRSLQPDKRLENLLQQVSAEDFEKQ
  NEEARRTNRQAELFALYPSVDEEDAVEIRPVPECPKEHLGNRILVKLLTLKFEIEIEPLFASIALYDVKERKKIS
  ENFHCDLNSDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIEKVLQQGEIGDCAEPYTVIKESDGGK
  SKEKIEKLKLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLEREVTDVDSVVGRSSVGERRTLAQSRRLSERAL
  SLEENGVGSNFKTSTLSVSSFFKQEGDRLSDEDLFKFLADYKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTP
  EMLPVKPFPENRTRPHKEILEFPTREVYVPHTVYRNLLYVYPQRLNFVNKLASARNITIKIQFMCGEDASNAMPV
  IFGKSSGPEFLQEVYTAVTYHNKSPDFYEEVKIKLPAKLTVNHHLLFTFYHISCQQKQGASVETLLGYSWLPILL
  NERLQTGSYCLPVALEKLPPNYSMHSAEKVPLQNPPIKWAEGHKGVFNIEVQAVSSVHTQDNHLEKFFTLCHSLE
  SQVTFPIRVLDQKISEMALEHELKLSIICLNSSRLEPLVLFLHLVLDKLFQLSVQPMVIAGQTANFSQFAFESVV
  AIANSLHNSKDLSKDQHGRNCLLASYVHYVFRLPEVQRDVPKSGAPTALLDPRSYHTYGRTSAAAVSSKLLQARV
  MSSSNPDLAGTHSAADEEVKNIMSSKIADRNCSRMSYYCSGSSDAPSSPAAPRPASKKHFHEELALQMVVSTGMV
  RETVFKYAWFFFELLVKSMAQHVHNMDKRDSFRRTRFSDRFMDDITTIVNVVTSEIAALLVKPQKENEQAEKMNI
  SLAFFLYDLLSLMDRGFVFNLIRHYCSQLSAKLSNLPTLISMRLEFLRILCSHEHYLNLNLFFMNADTAPTSPCP
  SISSQNSSSCSSFQDQKIASMFDLTSEYRQQHFLTGLLFTELAAALDAEGEGISKVQRKAVSAIHSLLSSHDLDP
  RCVKPEVKVKIAALYLPLVGIILDALPQLCDFTVADTRRYRTSGSDEEQEGAGAINQNVALAIAGNNFNLKTSGI
  VLSSLPYKQYNMLNADTTRNLMICFLWIMKNADQSLIRKWIADLPSTQLNRILDLLFICVLCFEYKGKQSSDKVS
  TQVLQKSRDVKARLEEALLRGEGARGEMMRRRAPGNDRFPGLNENLRWKKEQTHWRQANEKLDKTKAELDQEALI
  SGNLATEAHLIILDMQENIIQASSALDCKDSLLGGVLRVLVNSLNCDQSTTYLTHCFATLRALIAKFGDLLFEEE
  VEQCFDLCHQVLHHCSSSMDVTRSQACATLYLLMRFSFGATSNFARVKMQVTMSLASLVGRAPDFNEEHLRRSLR
  TILAYSEEDTAMQMTPFPTQVEELLCNLNSILYDTVKMREFQEDPEMLMDLMYRIAKSYQASPDLRLTWLQNMAE
  KHTKKKCYTEAAMCLVHAAALVAEYLSMLEDHSYLPVGSVSFQNISSNVLEESVVSEDTLSPDEDGVCAGQYFTE
  SGLVGLLEQAAELFSTGGLYETVNEVYKLVIPILEAHREFRKLTLTHSKLQRAFDSIVNKDHKRMFGTYFRVGFF
  GSKFGDLDEQEFVYKEPAITKLPEISHRLEAFYGQCFGAEFVEVIKDSTPVDKTKLDPNKAYIQITFVEPYFDEY
  EMKDRVTYFEKNFNLRRFMYTTPFTLEGRPRGELHEQYRRNTVLTTMHAFPYIKTRISVIQKEEFVLTPIEVAIE
  DMKKKTLQLAVAINQEPPDAKMLQMVLQGSVGATVNQGPLEVAQVFLAEIPADPKLYRHHNKLRLCFKEFIMRCG
  EAVEKNKRLITADQREYQQELKKNYNKLKENLRPMIERKIPELYKPIFRVESQKRDSFHRSSFRKCETQLSQGS

• Structural information:
  • Protein Domains: (560..72-)
    (/note="C2-DOCK-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00983-)
    (1632..206-)
    (/note="DOCKER-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00984"-)
  • Interpro: IPR016024  IPR037808  IPR035892  IPR027007  IPR027357   IPR026791  IPR010703  IPR021816  
  • Prosite: PS51650 PS51651
  • CDD: cd08696
  • STRING: ENSP00000394888
• Other Databases: GeneCards:  DOCK8  Malacards:  DOCK8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0061485	memory T cell proliferation	IMP	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001771	immunological synapse formation	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0031252	cell leading edge	IEA	cellular component
GO:0036336	dendritic cell migration	IEA	biological process
GO:0070233	negative regulation of T cell apoptotic process	IEA	biological process
GO:1903905	positive regulation of establishment of T cell polarity	IEA	biological process
GO:2000406	positive regulation of T cell migration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031258	lamellipodium membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0031256	leading edge membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1990869	cellular response to chemokine	IMP	biological process
GO:1903905	positive regulation of establishment of T cell polarity	IMP	biological process
GO:2000406	positive regulation of T cell migration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Hyper-IgE syndrome	KEGG:H01968
Autosomal dominant mental retardation	KEGG:H00773
Hyper-IgE syndrome	KEGG:H01968
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)