DOCK6

Protein identityUniProt · HPA

UniProt accession

Q96HP0

Gene

DOCK6

Ensembl

ENSG00000130158

Chromosome

19

Canonical length

2047 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

2047 residues, UniProt reviewed canonical sequence.

>Q96HP0|DOCK6
     1  MAASERRAFA HKINRTVAAE VRKQVSRERS GSPHSSRRCS SSLGVPLTEV VEPLDFEDVL
    61  LSRPPDAEPG PLRDLVEFPA DDLELLLQPR ECRTTEPGIP KDEKLDAQVR AAVEMYIEDW
   121  VIVHRRYQYL SAAYSPVTTD TQRERQKGLP RQVFEQDASG DERSGPEDSN DSRRGSGSPE
   181  DTPRSSGASS IFDLRNLAAD SLLPSLLERA APEDVDRRNE TLRRQHRPPA LLTLYPAPDE
   241  DEAVERCSRP EPPREHFGQR ILVKCLSLKF EIEIEPIFGI LALYDVREKK KISENFYFDL
   301  NSDSMKGLLR AHGTHPAIST LARSAIFSVT YPSPDIFLVI KLEKVLQQGD ISECCEPYMV
   361  LKEVDTAKNK EKLEKLRLAA EQFCTRLGRY RMPFAWTAVH LANIVSSAGQ LDRDSDSEGE
   421  RRPAWTDRRR RGPQDRASSG DDACSFSGFR PATLTVTNFF KQEAERLSDE DLFKFLADMR
   481  RPSSLLRRLR PVTAQLKIDI SPAPENPHFC LSPELLHIKP YPDPRGRPTK EILEFPAREV
   541  YAPHTSYRNL LYVYPHSLNF SSRQGSVRNL AVRVQYMTGE DPSQALPVIF GKSSCSEFTR
   601  EAFTPVVYHN KSPEFYEEFK LHLPACVTEN HHLLFTFYHV SCQPRPGTAL ETPVGFTWIP
   661  LLQHGRLRTG PFCLPVSVDQ PPPSYSVLTP DVALPGMRWV DGHKGVFSVE LTAVSSVHPQ
   721  DPYLDKFFTL VHVLEEGAFP FRLKDTVLSE GNVEQELRAS LAALRLASPE PLVAFSHHVL
   781  DKLVRLVIRP PIISGQIVNL GRGAFEAMAH VVSLVHRSLE AAQDARGHCP QLAAYVHYAF
   841  RLPGTEPSLP DGAPPVTVQA ATLARGSGRP ASLYLARSKS ISSSNPDLAV APGSVDDEVS
   901  RILASKLLHE ELALQWVVSS SAVREAILQH AWFFFQLMVK SMALHLLLGQ RLDTPRKLRF
   961  PGRFLDDITA LVGSVGLEVI TRVHKDVELA EHLNASLAFF LSDLLSLVDR GFVFSLVRAH
  1021  YKQVATRLQS SPNPAALLTL RMEFTRILCS HEHYVTLNLP CCPLSPPASP SPSVSSTTSQ
  1081  SSTFSSQAPD PKVTSMFELS GPFRQQHFLA GLLLTELALA LEPEAEGAFL LHKKAISAVH
  1141  SLLCGHDTDP RYAEATVKAR VAELYLPLLS IARDTLPRLH DFAEGPGQRS RLASMLDSDT
  1201  EGEGDIAGTI NPSVAMAIAG GPLAPGSRAS ISQGPPTASR AGCALSAESS RTLLACVLWV
  1261  LKNTEPALLQ RWATDLTLPQ LGRLLDLLYL CLAAFEYKGK KAFERINSLT FKKSLDMKAR
  1321  LEEAILGTIG ARQEMVRRSR ERSPFGNPEN VRWRKSVTHW KQTSDRVDKT KDEMEHEALV
  1381  EGNLATEASL VVLDTLEIIV QTVMLSEARE SVLGAVLKVV LYSLGSAQSA LFLQHGLATQ
  1441  RALVSKFPEL LFEEDTELCA DLCLRLLRHC GSRISTIRTH ASASLYLLMR QNFEIGHNFA
  1501  RVKMQVTMSL SSLVGTTQNF SEEHLRRSLK TILTYAEEDM GLRDSTFAEQ VQDLMFNLHM
  1561  ILTDTVKMKE HQEDPEMLID LMYRIARGYQ GSPDLRLTWL QNMAGKHAEL GNHAEAAQCM
  1621  VHAAALVAEY LALLEDHRHL PVGCVSFQNI SSNVLEESAI SDDILSPDEE GFCSGKHFTE
  1681  LGLVGLLEQA AGYFTMGGLY EAVNEVYKNL IPILEAHRDY KKLAAVHGKL QEAFTKIMHQ
  1741  SSGWERVFGT YFRVGFYGAH FGDLDEQEFV YKEPSITKLA EISHRLEEFY TERFGDDVVE
  1801  IIKDSNPVDK SKLDSQKAYI QITYVEPYFD TYELKDRVTY FDRNYGLRTF LFCTPFTPDG
  1861  RAHGELPEQH KRKTLLSTDH AFPYIKTRIR VCHREETVLT PVEVAIEDMQ KKTRELAFAT
  1921  EQDPPDAKML QMVLQGSVGP TVNQGPLEVA QVFLAEIPED PKLFRHHNKL RLCFKDFCKK
  1981  CEDALRKNKA LIGPDQKEYH RELERNYCRL REALQPLLTQ RLPQLMAPTP PGLRNSLNRA
  2041  SFRKADL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DOCK6 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)

0.3

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DOCK6.

Disease | AllUniProt

Conditions DOCK6 is implicated in, by any mechanism.

• Adams-Oliver syndrome 2 (AOS2) MIM:614219

Disease | GeneticClinVar

100 pathogenic / likely-pathogenic of 1,747 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Adams-Oliver syndrome 2
• Adams-Oliver syndrome
• Inborn genetic diseases
• DOCK6-related disorder
• Malignant tumor of urinary bladder

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)

0.72

gnomAD pLI

0

gnomAD missense Z

1.43

DepMap mean gene effect

-0.13

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

• regulation of Rho protein signal transduction
• small GTPase-mediated signal transduction

Molecular functions

• guanyl-nucleotide exchange factor activity

Cellular components

• cytosol
• perinuclear region of cytoplasm

Protein domainsUniProt · Pfam · InterPro

• Dedicator of cytokinesis C/D, N-terminal
• Dedicator of cytokinesis
• C2 DOCK-type domain
• DOCKER domain
• C2 domain superfamily
• Dedicator of cytokinesis C, C2 domain
• Dedicator of cytokinesis, C-terminal, lobe A
• Dedicator of cytokinesis, C-terminal, lobe C
• DOCKER, Lobe A
• DOCKER, Lobe B
• DOCKER, Lobe C
• DHR-2, Lobe A
• Dedicator of cytokinesis C/D, N terminal
• C2 domain in Dock180 and Zizimin proteins
• DHR-2, Lobe C
• DHR-2, Lobe B

KeywordsUniProt

• Cytoplasm
• Guanine-nucleotide releasing factor
• Methylation
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of DOCK6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DOCK7
• LRCH4