DOCK11 (dedicator of cytokinesis 11)

Gene

• Entrez ID: 139818
• Gene name: Dedicator of cytokinesis 11
• Gene symbol: DOCK11
• Synonyms (NCBI Gene): ACG, ADMIDX, ZIZ2, bB128O4.1
• Chromosome: X
• Chromosome location: Xq24

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018377	hsa-miR-335-5p	Microarray	18185580
MIRT048666	hsa-miR-99a-5p	CLASH	23622248
MIRT040608	hsa-miR-92b-3p	CLASH	23622248
MIRT460439	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT460438	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT460437	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT460436	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT460435	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT460434	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT460433	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT460432	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT460431	hsa-miR-4293	PAR-CLIP	23592263
MIRT460430	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT460428	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT460429	hsa-miR-4468	PAR-CLIP	23592263
MIRT460427	hsa-miR-103a-3p	PAR-CLIP	23592263
MIRT460426	hsa-miR-107	PAR-CLIP	23592263
MIRT460439	hsa-miR-6771-3p	PAR-CLIP	23592263
MIRT460438	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT460437	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT460436	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT460435	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT460434	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT460433	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT460432	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT460431	hsa-miR-4293	PAR-CLIP	23592263
MIRT460430	hsa-miR-6849-3p	PAR-CLIP	23592263
MIRT460428	hsa-miR-4786-5p	PAR-CLIP	23592263
MIRT460429	hsa-miR-4468	PAR-CLIP	23592263
MIRT460427	hsa-miR-103a-3p	PAR-CLIP	23592263
MIRT460426	hsa-miR-107	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IEA
GO:0001782	Process	B cell homeostasis	ISS
GO:0002315	Process	Marginal zone B cell differentiation	IEA
GO:0002315	Process	Marginal zone B cell differentiation	ISS
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
GO:0005515	Function	Protein binding	IPI	25074804
GO:0005829	Component	Cytosol	TAS
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0043547	Process	Positive regulation of GTPase activity	ISS
GO:0051491	Process	Positive regulation of filopodium assembly	IBA
GO:0051491	Process	Positive regulation of filopodium assembly	IEA
GO:0051491	Process	Positive regulation of filopodium assembly	IMP	37342957
GO:0051491	Process	Positive regulation of filopodium assembly	ISS

Other IDs

• MIM: 300681
• HGNC: 23483
• e!Ensembl: ENSG00000147251

Protein

• UniProt ID: Q5JSL3
• Protein name: Dedicator of cytokinesis protein 11 (Activated Cdc42-associated guanine nucleotide exchange factor) (ACG) (Zizimin-2)
• Protein function: Guanine nucleotide-exchange factor (GEF) that activates CDC42 by exchanging bound GDP for free GTP (PubMed:37342957). Required for marginal zone (MZ) B-cell development, is associated with early bone marrow B-cell development, MZ B-cell formatio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11878	DUF3398	37 → 147	Domain of unknown function (DUF3398)	Domain
  PF00169	PH	166 → 272	PH domain	Domain
  PF14429	DOCK-C2	636 → 827	C2 domain in Dock180 and Zizimin proteins	Domain
  PF06920	DHR-2	1510 → 2029	Dock homology region 2	Family

• Sequence:

  MAEVRKFTKRLSKPGTAAELRQSVSEAVRGSVVLEKAKVVEPLDYENVIAQRKTQIYSDP
  LRDLLMFPMEDISISVIGRQRRTVQSTVPEDAEKRAQSLFVKECIKTYSTDWHVVNYKYE
  DFSGDFRMLPCKSLRPEKIPNHVFEIDEDCEKDEDSSSLCSQKGGVIKQGWLHKANVNST
  ITVTMKVFKRRYFYLTQLPDGSYILNSYKDEKNSKESKGCIYLDACIDVVQCPKMRRHAF
  ELKMLDKYSHYLAAETEQEMEEWLITLKKIIQINTDSLVQEKKETVETAQDDETSSQGKA
  ENIMASLERSMHPELMKYGRETEQLNKLSRGDGRQNLFSFDSEVQRLDFSGIEPDIKPFE
  EKCNKRFLVNCHDLTFNILGQIGDNAKGPPTNVEPFFINLALFDVKNNCKISADFHVDLN
  PPSVREMLWGSSTQLASDGSPKGSSPESYIHGIAESQLRYIQQGIFSVTNPHPEIFLVAR
  IEKVLQGNITHCAEPYIKNSDPVKTAQKVHRTAKQVCSRLGQYRMPFAWAARPIFKDTQG
  SLDLDGRFSPLYKQDSSKLSSEDILKLLSEYKKPEKTKLQIIPGQLNITVECVPVDLSNC
  ITSSYVPLKPFEKNCQNITVEVEEFVPEMTKYCYPFTIYKNHLYVYPLQLKYDSQKTFAK
  ARNIAVCVEFRDSDESDASALKCIYGKPAGSVFTTNAYAVVSHHNQNPEFYDEIKIELPI
  HLHQKHHLLFTFYHVSCEINTKGTTKKQDTVETPVGFAWVPLLKDGRIITFEQQLPVSAN
  LPPGYLNLNDAESRRQCNVDIKWVDGAKPLLKIKSHLESTIYTQDLHVHKFFHHCQLIQS
  GSKEVPGELIKYLKCLHAMEIQVMIQFLPVILMQLFRVLTNMTHEDDVPINCTMVLLHIV
  SKCHEEGLDSYLRSFIKYSFRPEKPSAPQAQLIHETLATTMIAILKQSADFLSINKLLKY
  SWFFFEIIAKSMATYLLEENKIKLPRGQRFPETYHHVLHSLLLAIIPHVTIRYAEIPDES
  RNVNYSLASFLKRCLTLMDRGFIFNLINDYISGFSPKDPKVLAEYKFEFLQTICNHEHYI
  PLNLPMAFAKPKLQRVQDSNLEYSLSDEYCKHHFLVGLLLRETSIALQDNYEIRYTAISV
  IKNLLIKHAFDTRYQHKNQQAKIAQLYLPFVGLLLENIQRLAGRDTLYSCAAMPNSASRD
  EFPCGFTSPANRGSLSTDKDTAYGSFQNGHGIKREDSRGSLIPEGATGFPDQGNTGENTR
  QSSTRSSVSQYNRLDQYEIRSLLMCYLYIVKMISEDTLLTYWNKVSPQELINILILLEVC
  LFHFRYMGKRNIARVHDAWLSKHFGIDRKSQTMPALRNRSGVMQARLQHLSSLESSFTLN
  HSSTTTEADIFHQALLEGNTATEVSLTVLDTISFFTQCFKTQLLNNDGHNPLMKKVFDIH
  LAFLKNGQSEVSLKHVFASLRAFISKFPSAFFKGRVNMCAAFCYEVLKCCTSKISSTRNE
  ASALLYLLMRNNFEYTKRKTFLRTHLQIIIAVSQLIADVALSGGSRFQESLFIINNFANS
  DRPMKATAFPAEVKDLTKRIRTVLMATAQMKEHEKDPEMLIDLQYSLAKSYASTPELRKT
  WLDSMAKIHVKNGDFSEAAMCYVHVAALVAEFLHRKKLFPNGCSAFKKITPNIDEEGAMK
  EDAGMMDVHYSEEVLLELLEQCVDGLWKAERYEIISEISKLIVPIYEKRREFEKLTQVYR
  TLHGAYTKILEVMHTKKRLLGTFFRVAFYGQSFFEEEDGKEYIYKEPKLTGLSEISLRLV
  KLYGEKFGTENVKIIQDSDKVNAKELDPKYAHIQVTYVKPYFDDKELTERKTEFERNHNI
  SRFVFEAPYTLSGKKQGCIEEQCKRRTILTTSNSFPYVKKRIPINCEQQINLKPIDVATD
  EIKDKTAELQKLCSSTDVDMIQLQLKLQGCVSVQVNAGPLAYARAFLNDSQASKYPPKKV
  SELKDMFRKFIQACSIALELNERLIKEDQVEYHEGLKSNFRDMVKELSDIIHEQILQEDT
  MHSPWMSNTLHVFCAISGTSSDRGYGSPRYAEV

• Sequence length: 2073

Pathways

Reactome:

Factors involved in megakaryocyte development and platelet production

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autoinflammatory disease, multisystem, with immune dysregulation, X-linked	Pathogenic; Likely pathogenic	rs2520635065, rs2521619739, rs2522168189, rs2521851616, rs2521885841, rs927463788, rs750008778	RCV003313315 RCV003313316 RCV003313318 RCV003313319 RCV003313320 RCV003313321 RCV003313322	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DOCK11 deficiency	Pathogenic; Likely pathogenic	rs2522168189, rs2522181650, rs2521851616, rs2521885841, rs1023180244, rs927463788, rs750008778	RCV003224071 RCV003224072 RCV003224073 RCV003224074 RCV003224075 RCV003224076 RCV003224077	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inborn error of hematopoiesis and immunity with systemic inflammation and normocytic anemia	Likely pathogenic; Pathogenic	rs1202446895, rs2520635065, rs2521932028, rs2521619739	RCV003232868 RCV003232869 RCV003232870 RCV003232871	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2521885841	RCV005930776	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DOCK11-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET IMMUNE DYSREGULATION DUE TO DOCK11 COMPLETE DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET IMMUNE DYSREGULATION WITH AUTOIMMUNITY DUE TO DOCK11 PARTIAL DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2,8-Dihydroxyadenine Urolithiasis	2,8-Dihydroxyadenine Urolithiasis	BEFREE	2227951		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	27007833		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	20870434, 3680504		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	20870434, 3680504		★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 2	Atelosteogenesis	BEFREE	16642506		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22030357		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36952639, 40274249	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15084241, 15126109		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	40274249	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24971577		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	22696188		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	29610508, 29895986		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	10738359		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	20610662	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20610662		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	31566051		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	21698003		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	9824378		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	26373794		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	26373794		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	36952639	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31335359, 31385826		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	10770215		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	36952639	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28071656, 28071657, 28534523		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	40274249	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31762818		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	1933902		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	15934440		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36952639	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	15934440		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15934440		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	15934440		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15084241, 15126109		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	25645574		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	9447290, 9824378		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	BEFREE	21253810		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30443838		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	10457270		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	BEFREE	29485131		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	10770215		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	36952639	Associate	★☆☆☆☆ Found in Text Mining only
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	BEFREE	11241313		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30839391, 30840605		★☆☆☆☆ Found in Text Mining only