DOCK8 - dedicator of cytokinesis 8 Gene

Also Known as MRD2; ZIR8; HEL-205

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 81704

About DOCK8

Cytogenetic location: 9p24.3 Genomic coordinates (GRCh38): 9:211,257-465,255 (from NCBI)

This gene has 25 transcripts (splice variants), 238 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in lymph node (RPKM 24.2), spleen (RPKM 23.1) and 21 other tissues.

Summary

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 recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]

DOCK8 Products (3)

mRNA Protein Name
NM_001190458.2 NP_001177387.1 dedicator of cytokinesis protein 8 isoform 2
NM_001193536.2 NP_001180465.1 dedicator of cytokinesis protein 8 isoform 3
NM_203447.4 NP_982272.2 dedicator of cytokinesis protein 8 isoform 1
Molecular Function GO Annotation Evidence References Source
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
28028151 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22581261 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to chemokine IMP
IMP: Inferred from mutant phenotype
28028151 GOA
acts upstream of or within memory T cell proliferation IMP
IMP: Inferred from mutant phenotype
22006977 GOA
involved in positive regulation of GTPase activity IDA
IDA: Inferred from direct assay
28028151 GOA
involved in positive regulation of T cell migration IMP
IMP: Inferred from mutant phenotype
28028151 GOA
involved in positive regulation of establishment of T cell polarity IMP
IMP: Inferred from mutant phenotype
28028151 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
28028151 GOA
located in leading edge membrane IDA
IDA: Inferred from direct assay
28028151 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DOCK8 Protein Structure

DUF3398

DUF3398: Domain of unknown function (DUF3398) (1 - 96)

DOCK-C2

DOCK-C2: C2 domain in Dock180 and Zizimin proteins (487 - 671)

DHR-2

DHR-2: Dock homology region 2 (1814 - 1990)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2031 a.a.
Protein Preferred Names Protein Names

dedicator of cytokinesis protein 8

  • 1200017A24Rik

DOCK8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DOCK8 Q8NF50 KRT40 Homo sapiens Q6A162 25416956
Intra
DOCK8 Q8NF50 KRT40 Homo sapiens Q6A162 25416956
Intra
DOCK8 Q8NF50 KRT40 Homo sapiens Q6A162 25416956
Intra
DOCK8 Q8NF50 LRCH2 Homo sapiens Q5VUJ6 24255178
Intra
DOCK8 Q8NF50 LRCH2 Homo sapiens Q5VUJ6 32203420
Intra
DOCK8 Q8NF50 LRCH2 Homo sapiens Q5VUJ6 28514442
Intra
DOCK8 Q8NF50 LRCH2 Homo sapiens Q5VUJ6 33961781
Intra
DOCK8 Q8NF50 LRCH1 Homo sapiens Q9Y2L9 24255178
Intra
DOCK8 Q8NF50 LRCH1 Homo sapiens Q9Y2L9 31515488
Intra
DOCK8 Q8NF50 MYD88 Homo sapiens Q99836 22581261
Intra
DOCK8 Q8NF50 MYD88 Homo sapiens Q99836 22581261
Intra
DOCK8 Q8NF50 CARHSP1 Homo sapiens Q9Y2V2 25416956
Intra
DOCK8 Q8NF50 CARHSP1 Homo sapiens Q9Y2V2 25416956
Intra
DOCK8 Q8NF50 MEOX2 Homo sapiens P50222 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

DOCK8 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82968 DOCK8 Antibody (YA2713) WB Human

Related Diseases

Diseases Alias
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
  • Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive

  • HIES2

  • Hies Autosomal Recessive

  • Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive

  • Hyper-Ige Syndrome, Autosomal Recessive

  • Hies, Autosomal Recessive

  • Autosomal Recessive Hyper Ige Syndrome

  • Ar Hyperimmunoglobulin E Syndrome

  • Ar-Hies

  • Dock8 Deficiency

  • Hyper Ig E Syndrome, Autosomal Recessive

  • Hyper-Ige Recurrent Infection Syndrome Autosomal Recessive

  • Hyper-Ige Syndrome Autosomal Recessive

  • Hyperimmunoglobulin E Syndrome Type 2

  • Nonskeletal Hyper Ige Syndrome

  • Hyper-Immunoglobulin E Syndrome, Autosomal Recessive

Dock8 Immunodeficiency Syndrome
  • Combined Immunodeficiency Due To Dock8 Deficiency

  • Cid Due To Dock8 Deficiency

  • Ar-Hies

  • Autosomal Recessive Hies

  • Autosomal Recessive Hyper-Ige Syndrome

  • Dock8 Deficiency

  • Hyper Ige Recurrent Infection Syndrome, Autosomal Recessive

  • Hyper Immunoglobulin E Syndrome, Autosomal Recessive

  • Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive

  • Hyperimmunoglobulin E Syndrome Type 2

  • Non-Skeletal Hyper-Ige Syndrome

  • Combined Immunodeficiency Due To Dedicator Of Cytokinesis 8 Protein Deficiency

Severe Combined Immunodeficiency
  • Scid

  • Severe Combined Immunodeficiency Disease

  • Combined T And B Cell Inborn Immunodeficiency

  • Immunodeficiency, Severe Combined

  • Scid - [Severe Combined Immunodeficiencies]

Autosomal Dominant Non-Syndromic Intellectual Disability
Hyper Ige Syndrome
  • Hyper-Ige Syndrome

  • Hyper Immunoglobulin E Syndrome

  • Hies

  • Hyper-Ige Recurrent Infection Syndrome

  • Hyperimmunoglobulin E Syndrome

  • Hyper Ige

  • Job Syndrome

  • Hartnup Disease

Intellectual Developmental Disorder, Autosomal Dominant 2
  • MRD2

  • Autosomal Dominant Non-Syndromic Intellectual Disability 2

  • Autosomal Dominant Intellectual Developmental Disorder 2

  • Mental Retardation, Autosomal Dominant 2

Hyper Ige Recurrent Infection Syndrome 2
Cd40 Ligand Deficiency
  • X-Linked Hyper Igm Syndrome

  • Hyperimmunoglobulin M Syndrome

  • Higm1

  • Hyper-Igm Syndrome Type 1

  • X-Linked Hyper-Igm Syndrome

  • Xhigm

  • Higmx-1

  • X-Linked Hyper-Igm Immunodeficiency

  • Hyper-Igm Syndrome 1

  • Immunodeficiency With Hyper-Igm, Type 1

  • Hyper-Igm Syndrome Due To Cd40 Ligand Deficiency

  • Hyper-Igm Syndrome Due To Cd40l Deficiency

  • Hyper-Igm Immunodeficiency Syndrome

  • Hyper-Igm Immunodeficiency Syndrome, Type 1

Hyper Ige Recurrent Infection Syndrome 1
  • Job Syndrome

  • Hyper-Ige Recurrent Infection Syndrome 1

  • Hyperimmunoglobulin E Syndrome

  • Job'S Syndrome

  • Recurring Cold Staphylococcal Abscesses

  • Ige Syndromes

  • Buckley Syndrome

  • Hie - [Hyperimmunoglobulin E] Syndrome

  • Job-Buckley Syndrome

  • Quie-Hill Syndrome

Immunodeficiency 40
  • Dock2 Deficiency

  • IMD40

  • Immunodeficiency, Type 40

Combined Immunodeficiency
  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia

Immunodeficiency 35
  • Tyrosine Kinase 2 Deficiency

  • IMD35

  • Tyk2 Deficiency

  • Autosomal Recessive Hyper-Ige Syndrome With Atypical Mycobacteriosis

  • Susceptibility To Infection Due To Tyk2 Deficiency

  • Hyper-Ige Syndrome With Atypical Mycobacteriosis, Autosomal Recessive

  • Hies With Atypical Mycobacteriosis, Autosomal Recessive

  • Autosomal Recessiv Hies With Atypical Mycobacteriosis

  • Autosomal Recessive Hyper-Ige Syndrome Due To Tyk2 Deficiency

  • Autosomal Recessive Hies With Atypical Mycobacteriosis

Leukocyte Adhesion Deficiency, Type I
  • Leukocyte Adhesion Deficiency

  • Leukocyte Adhesion Deficiency 1

  • LAD1

  • Lad

  • Lymphocyte Function-Associated Antigen 1 Immunodeficiency

  • Leukocyte Adhesion Deficiency Type I

  • Leukocyte Adhesion Deficiency Type 1

  • Linear Iga Bullous Dermatosis

  • Linear Iga Dermatosis

  • Leukocyte-Adhesion Deficiency Syndrome

  • Lfa1 Immunodeficiency

  • Congenital Leukocyte Adherence Deficiency

  • Lad-I

  • Linear Iga Disease

  • Leukocyte Adhesion Deficiency Syndrome

  • Lad 1

  • Lfa 1 Immunodeficiency

  • Linear Immunoglobulin A Dermatosis

  • Leucocyte Adhesion Deficiency Type 1

  • Leukocyte Adhesion Molecule Deficiency Type 1

B Cell Deficiency
  • Immunoglobulin Heavy Chain Deficiency

  • B Cell Deficiencies

  • Immunoglobulin Heavy Chain Deletion

  • Humoral Immune Defect

External Ear Disease
  • Diseases Of External Ear

  • Preauricular Cyst

  • Preauricular Sinus And Fistula

  • Preauricular Sinus Or Fistula

Coronin-1a Deficiency
Wiskott-Aldrich Syndrome
  • WAS

  • Eczema-Thrombocytopenia-Immunodeficiency Syndrome

  • Immunodeficiency 2

  • Aldrich Syndrome

  • Imd2

  • Wiskott-Aldrich Syndrome 1

  • Was1

  • Wiskott Syndrome

  • Wiskott Aldrich Syndrome

  • Eczema Thrombocytopenia Immunodeficiency Syndrome

  • Imd 2

Immunodeficiency 13
  • Idiopathic Cd4 Lymphopenia

  • IMD13

  • Icl

  • Immunodeficiency, Type 13

Immunodeficiency 21
  • Monocytopenia And Mycobacterial Infection Syndrome

  • Monomac

  • Gata2 Deficiency

  • Monocytopenia With Susceptibility To Infections

  • Dcml

  • IMD21

  • Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency

  • Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

  • Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections

  • Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections

  • Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency

  • Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

  • Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

  • Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections

  • Monocyte - B - Natural Killer - Dendritic Cell Deficiency

  • Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections

  • Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency

  • Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia

Otitis Externa
  • Swimmer'S Ear

  • Infective Otitis Externa

  • Acute Infective Otitis Externa

Immunodeficiency 11
  • Immunodeficiency 11a

  • Severe Combined Immunodeficiency Due To Card11 Deficiency

  • IMD11A

  • Imd11

  • Card11 Immunodeficiency

  • Scid Due To Card11 Deficiency

  • Card11 Deficiency

  • Immunodeficiency 11 A

Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
  • Cd25 Deficiency

  • Immunodeficiency Due To Cd25 Deficiency

  • IMD41

  • Interleukin 2 Receptor, Alpha, Deficiency Of

  • Il2ra Deficiency

  • Immunodeficiency 41

  • Interleukin-2 Receptor Alpha Chain Deficiency

  • Interleukin 2 Receptor Alpha Deficiency

  • Interleukin-2 Receptor, Alpha Chain, Deficiency Of

  • Immunodeficiency, Type 41 With Lymphoproliferation And Autoimmunity

Epidermodysplasia Verruciformis 1
  • Epidermodysplasia Verruciformis

  • Epidermodysplasia Verruciformis, Susceptibility To, 1

  • Lutz-Lewandowsky Epidermodysplasia Verruciformis

  • EV1

  • Lewandowsky-Lutz Syndrome

  • Ev

Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
  • IPEX

  • X-Linked Autoimmunity-Allergic Dysregulation Syndrome

  • Xlaad

  • Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked

  • Ipex Syndrome

  • Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome

  • Iddm-Secretory Diarrhea Syndrome

  • Dmsd

  • Autoimmunity-Immunodeficiency Syndrome, X-Linked

  • Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy

  • Xpid

  • Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea

  • Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome

  • Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked

  • Autoimmune Enteropathy Type 1

  • Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked

  • Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly

  • Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome

  • Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked

  • Autoimmunity-Immunodeficiency Syndrome X-Linked

  • Iddm Secretory Diarrhea Syndrome

  • Polyendocrinopathy, Immune Dysfunction And Diarrhea X-Linked

  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

  • Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome

  • X-Linked Autoimmunity-Immunodeficiency Syndrome

  • Immunodeficiency, Polyendocrinopathy, And Enteropathy X-Linked Syndrome

  • X-Linked Syndrome Of Polyendocrinopathy, Immune Dysfunction, And Diarrhea

Whim Syndrome 1
  • Whim Syndrome

  • Whims

  • Warts, Hypogammaglobulinemia, Infections, And Myelokathexis

  • WHIMS1

  • Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome

  • Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1

  • Myelokathexis, Isolated

  • Wilm

  • Warts-Infections-Leukopenia-Myelokatexis Syndrome

  • Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1

Blepharoconjunctivitis
Transient Hypogammaglobulinemia
Malignant Syringoma
  • Microcystic Adnexal Carcinoma

  • Microcystic Adnexal Carcinoma Of Skin

  • Syringomatous Carcinoma

  • Eccrine Epithelioma

Mastoiditis
  • Mastoiditis Nec

Ectodermal Dysplasia
  • Congenital Ectodermal Defect

  • Congenital Ectodermal Dysplasia

  • Ectodermal Dysplasia Syndrome

  • Dysplasia, Ectodermal

Bare Lymphocyte Syndrome, Type Ii
  • Mhc Class Ii Deficiency

  • Bare Lymphocyte Syndrome

  • Major Histocompatibility Complex Class Ii Deficiency

  • Bare Lymphocyte Syndrome 2

  • Bare Lymphocyte Syndrome Type 2

  • Severe Combined Immunodeficiency, Hla Class Ii-Negative

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

  • Bare Lymphocyte Syndrome Type Ii

  • Scid, Hla Class Ii-Negative

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

  • Scid Due To Absent Class Ii Hla Antigens

  • Hla Class 1 Deficiency

  • Scid, Hla Class 2-Negative

  • Bls Type Ii

  • Bare Lymphocyte Syndrome Type 2, Complementation Group A

  • Bare Lymphocyte Syndrome Type 2, Complementation Group E

  • Severe Combined Immunodeficiency

  • Bls, Type Ii

  • Bls

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

  • Blsii

  • Bls Type 1

  • Bls 2

  • Scid Due To Absence Of Class Ii Hla Antigens

  • Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

  • Immunodeficiency By Defective Expression Of Mhc Class Ii

  • BLS2

  • Bare Lymphocyte Syndrome Type Ii Complementation Group A

  • Bare Lymphocyte Syndrome Type Ii Complementation Group B

  • Bare Lymphocyte Syndrome Type Ii Complementation Group C

  • Bare Lymphocyte Syndrome Type Ii Complementation Group D

  • Bare Lymphocyte Syndrome Type Ii Complementation Group E

  • Bls Ii

  • Hereditary Mhc Class Ii Deficiency

  • Hla Class Ii Deficient Combined Immunodeficiency

  • Mhc-Ii Deficiency

  • Scid Hla Class Ii-Negative

  • Severe Combined Immunodeficiency Hla Class Ii-Negative

  • Bl-2

  • Immunodeficiency By Defective Expression Of Hla Class 2

  • Hla Class 2-Negative Severe Combined Immunodeficiency

Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
  • IMD63

  • Il2rb Deficiency

  • Cd122 Deficiency

  • Immunodeficiency 63

  • Interleukin 2 Receptor, Beta, Deficiency Of

  • Deficiency Of Interleukin 2 Receptor Beta

Immunodeficiency 14
  • Activated Pi3k-Delta Syndrome

  • Apds

  • Pasli Disease

  • Imd14

  • Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation

  • P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

Chickenpox
  • Varicella

  • Varicella Nos

Nail Disease
  • Nail Diseases

  • Abnormality Of The Nail

  • Nail Anomaly

Lung Abscess
  • Apical Lung Abscess

  • Abscess Of Lung

  • Abscess Of Lung Nos

  • Pulmonary Abscess

  • Multiple Abscess Of Lung

T Cell Deficiency
  • T Cell Immunodeficiency

  • T Lymphocyte Deficiency

  • T Lymphocyte Immunodeficiency

  • T-Lymphocyte Deficiency

Chronic Mucocutaneous Candidiasis
  • Candidiasis, Chronic Mucocutaneous

  • Cmc

  • Candidiasis Chronic Mucocutaneous

Immunodeficiency 58
  • IMD58

  • Severe Combined Immunodeficiency Due To Carmil2 Deficiency

  • Combined Immunodeficiency Due To Carmil2 Deficiency

  • Combined Immunodeficiency Due To Rltpr Deficiency

Omenn Syndrome
  • Histiocytic Medullary Reticulosis

  • Severe Combined Immunodeficiency With Hypereosinophilia

  • Combined Immunodeficiency With Hypereosinophilia

  • Reticuloendotheliosis, Familial, With Eosinophilia

  • Reticuloendotheliosis Familial With Eosinophilia

  • Familial Reticuloendotheliosis

  • Omenn'S Syndrome

  • OS

  • Malignant Histiocytosis

Hereditary Spastic Paraplegia 51
  • Autosomal Dominant Spastic Paraplegia 51

  • Cpsq4

  • Spastic Quadriplegic Cerebral Palsy 4

  • Spg51

  • Spastic Paraplegia 51, Autosomal Recessive

Immunodeficiency 30
  • Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency

  • IMD30

  • Il12rb1 Deficiency

  • Mendelian Susceptibility To Interleukin 12 Receptor Beta 1 Deficiency

  • Msmd Due To Complete Il12rb1 Deficiency

  • Msmd Due To Complete Interleukin 12 Receptor Beta 1 Deficiency

  • Il-12râ1 Deficiency

  • Mendelian Susceptibility To Mycobacterial Infections Due To Il12 Deficiency

  • Immunodeficiency, Type 30

Chromosome 9p Deletion Syndrome
  • Monosomy 9p

  • Monosomy 9p Syndrome

  • Alfi Syndrome

  • 9p Syndrome

  • Chromosome 9p Deletion

  • 9p Deletion

  • 9p Monosomy

  • Deletion 9p

  • Partial Monosomy 9p

  • 9p Deletion Syndrome

  • 9p- Syndrome

  • Alfi'S Syndrome

  • Chromosome 9, Partial Trisomy 9p

Eczema Herpeticum
  • Herpes Simplex Dermatitis

  • Herpes Simplex Eyelid Dermatitis

  • Kaposi Varicelliform Eruption

  • Herpes Simplex Dermatitis Of Eyelid

  • Herpes Simplex Virus Dermatitis

  • Herpes Simplex Virus Eyelid Dermatitis

Aneurysm, Intracranial Berry, 12
  • ANIB12

  • Intracranial Berry Aneurysm 12

Immunodeficiency With Hyper-Igm, Type 3
  • HIGM3

  • Immunodeficiency With Hyper Igm Type 3

  • Hyper-Igm Syndrome Type 3

  • Hyper-Igm Syndrome 3

  • Hyper-Igm Syndrome Due To Cd40 Deficiency

  • Cd40 Deficiency

  • Type 3 Hyper-Igm Immunodeficiency

  • Hyper Igm Syndrome 3

  • Immunodeficiency With Hyper-Igm 3

  • Hyper-Igm Immunodeficiency Type 3

  • Immunodeficiency, With Hyper Igm, Type 3

  • Hyper-Igm Immunodeficiency Syndrome, Type 3

Purine Nucleoside Phosphorylase Deficiency
  • Purine-Nucleoside Phosphorylase Deficiency

  • Pnp Deficiency

  • Nucleoside Phosphorylase Deficiency

  • Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

  • Deficiency Of Inosine Phosphorylase

  • Pnpase Deficiency

  • PNPD

Immunodeficiency With Hyper-Igm, Type 1
  • Immunodeficiency, X-Linked, With Hyper-Igm

  • Hyper Igm Syndrome

  • HIGM1

  • Xhim

  • Hyper-Igm Syndrome

  • Higm

  • Hyper-Igm Syndrome 1

  • Immunodeficiency 3

  • Imd3

  • Immunodeficiency With Hyper-Igm

  • Immunodeficiency With Hyper Igm Type 1

  • Ihis

  • X-Linked Hyper Igm Syndrome

  • Hyper-Igm Immunodeficiency, X-Linked

  • Hyper Igm Immunodeficiency, X-Linked

  • Hyper Igm Syndrome 1

  • X-Linked Immunodeficiency With Hyper-Igm 1

  • Immunodeficiency, With Hyper Igm

  • Immunodeficiency, With Hyper Igm, Type 1

  • Hyper-Igm Immunodeficiency Syndrome, Type 1

  • Hyperimmunoglobulin M Syndrome

Suppurative Lymphadenitis
  • Suppurative Lymphadenopathy

Common Wart
  • Verruca Vulgaris

  • Viral Warts Nos

  • Filiform Warts

  • Digitate Warts

Immunodeficiency 27b
  • Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

  • IMD27B

  • Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant

  • Ifngr1 Deficiency, Autosomal Dominant

  • Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

  • Autosomal Dominant Msmd Due To Partial Ifngammar1 Deficiency

  • Autosomal Dominant Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

  • Immunodeficiency 27b, Mycobacteriosis, Ad

  • Autosomal Dominant Ifngr1 Deficiency

  • Autosomal Dominant Immunodeficiency 27b, Mycobacteriosis

  • Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant

Type 1 Diabetes Mellitus 8
  • Diabetes Mellitus, Insulin-Dependent, 8

  • Iddm8

  • Insulin-Dependent Diabetes Mellitus 8

  • T1D8

  • Insulin-Dependent Diabetes Mellitus-8

Phagocyte Bactericidal Dysfunction
  • Phagocytic Dysfunction

Ras-Associated Autoimmune Leukoproliferative Disorder
  • RALD

  • Autoimmune Lymphoproliferative Syndrome Type 4

  • Alps4

  • Autoimmune Lymphoproliferative Syndrome, Type Iv

  • Ras-Associated Autoimmune Leukoproliferative Disease

  • Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic

  • Alps Type 4

  • Alps Type Iv

  • Autoimmune Lymphoproliferative Syndrome Type Iv

  • Autoimmune Lymphoproliferative Syndrome 4

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Hepatic Venoocclusive Disease With Immunodeficiency
  • VODI

  • Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome

  • Hepatic Veno-Occlusive Disease With Immunodeficiency

  • Familial Veno-Occlusive Disease With Immunodeficiency

  • Veno-Occlusive Disease And Immunodeficiency Syndrome

  • Vodi Syndrome

  • Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Autoimmune Polyendocrine Syndrome
  • Autoimmune Polyendocrinopathy

  • Autoimmune Polyglandular Failure

  • Autoimmune Polyglandular Syndrome

  • Polyendocrinopathies, Autoimmune

  • Lloyd'S Syndrome

  • Aps

  • Polyendocrinopathies Autoimmune

  • Polyendocrine Autoimmunity Syndrome

  • Lloyd Syndrome

  • Polyglandular Autoimmune Deficiency

  • Progressive Pluriglandular Insufficiency

  • Pluriglandular Autoimmune Atrophy

  • Pluriglandular Autoimmune Syndrome

  • Thyroid-Adrenocortical Insufficiency Syndrome

Opportunistic Mycosis
  • Opportunistic Mycoses

  • Opportunistic Systemic Mycoses

Granulomatous Disease, Chronic, X-Linked
  • CGDX

  • Chronic Granulomatous Disease, X-Linked

  • X-Linked Chronic Granulomatous Disease

  • Cgd

  • Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

  • Cdgx

  • X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

  • Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

  • Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

  • Granulomatous Disease, Chronic, X-Linked, Variant

Fungal Infectious Disease
  • Mycoses

  • Mycosis

Lymphoproliferative Syndrome 2
  • Cd27 Deficiency

  • LPFS2

  • Combined Immunodeficiency Due To Cd27 Deficiency

  • Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency

Bare Lymphocyte Syndrome, Type I
  • Hla Class I Deficiency

  • Mhc Class I Deficiency

  • Bls, Type I

  • Bare Lymphocyte Syndrome Type I

  • Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency

  • Blsi

  • Mhc Class 1 Deficiency

  • Major Histocompatibility Complex Class 1 Deficiency

  • Bare Lymphocyte Syndrome 1

  • BLS1

  • Bls I

  • Bls Type I

  • Bl-1

  • Bare Lymphocyte Syndrome Type 1

  • Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1

  • Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens

  • Bls - [Bare Lymphocyte Syndrome] Nos

Chronic Granulomatous Disease
  • Cgd

  • Granulomatous Disease, Chronic

  • Autosomal Recessive Chronic Granulomatous Disease

  • X-Linked Chronic Granulomatous Disease

  • Bridges-Good Syndrome

  • Congenital Dysphagocytosis

  • Quie Syndrome

  • Chronic Septic Granulomatosis

  • Chronic Granulomatous Disorder

  • Granulomatous Disease Chronic

  • Granulomatous Disease, Chronic, X-Linked

Hemophagocytic Lymphohistiocytosis
  • Lymphohistiocytosis, Hemophagocytic

  • Haemophagocytic Syndrome

  • Lymphohistiocytosis Hemophagocytic

  • Hemophagocytic Syndrome

  • Familial Hemophagocytic Lymphocytosis

  • Histiocytoses Of Mononuclear Phagocytes

  • Haemophagocytic Lymphohistiocytosis Nos

Gastrointestinal Defects And Immunodeficiency Syndrome 1
  • Familial Intestinal Polyatresia Syndrome

  • Fipa

  • Gastrointestinal Defects And Immunodeficiency Syndrome

  • Multiple Gastrointestinal Atresias

  • Familial Isolated Pituitary Adenoma

  • Intestinal Atresia, Multiple

  • Multiple Intestinal Atresia

  • GIDID1

  • Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

  • Minat

  • Gidid

  • Meddra:10028210

  • Familial Isolated Pituitary Adenoma Syndrome

  • Intestinal Atresia Multiple

  • Combined Immunodeficiency-Enteropathy Spectrum

  • Cid-Mia/Early-Onset Ibd

  • Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

  • Mia

  • Gastrointestinal Defect And Immunodeficiency Syndrome

  • Pituitary Adenoma Predisposition

  • Pituitary Adenoma, Familial Isolated

Autoimmune Lymphoproliferative Syndrome
  • ALPS

  • Canale-Smith Syndrome

  • Autoimmune Lymphoproliferative Syndrome, Type Ia

  • Autoimmune Lymphoproliferative Syndrome, Type Ib

  • Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

  • Css

  • Autoimmune Lymphoproliferative Syndrome, Type 1b

  • Autoimmune Lymphoproliferative Syndrome, Type 1a

  • Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

  • Fas Deficiency

  • Autoimmune Lymphoproliferative Syndrome 1a

  • ALPS1A

  • Autoimmune Lymphoproliferative Syndrome Type Ia

  • Autoimmune Lymphoproliferative Syndrome 1b

  • ALPS1B

  • Autoimmune Lymphoproliferative Syndrome Type Ib

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DOCK8 RGD RGD:1561588
Mus musculus DOCK8 MGD MGI:1921396
Canis familiaris DOCK8 VGNC VGNC:40052
Bos taurus DOCK8 VGNC VGNC:28162
Macaca mulatta DOCK8 VGNC VGNC:71865
Felis catus DOCK8 VGNC VGNC:61577
Others DOCK8 NCBI