Showing entry for Cytoplasmic dynein 2 heavy chain 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT018548
Protein NameCytoplasmic dynein 2 heavy chain 1
Uniport IdQ8NCM8
GeneDYNC2H1
Gene Id79659
DomainA_6; A_7; A_8; A_9; A_lid_11; DHC_N1; DHC_N2; Dynein_C; Dynein_heavy; MT
Pfam PF12774   PF12780   PF12781   PF18198   PF08385   PF08393   PF18199   PF03028   PF12777  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
4. Cellular Processes 4.1 Transport and catabolism hsa04145 Phagosome
5. Organismal Systems 5.5 Excretory system hsa04962 Vasopressin-regulated water reabsorption
6. Human Diseases 6.8 Infectious diseases: Bacterial hsa05132 Salmonella infection
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0060271 cilium assembly
Biological Process GO:0060976 coronary vasculature development
Biological Process GO:0007368 determination of left/right symmetry
Biological Process GO:0009953 dorsal/ventral pattern formation
Biological Process GO:0030326 embryonic limb morphogenesis
Biological Process GO:0030900 forebrain development
Biological Process GO:0007030 Golgi organization
Biological Process GO:0035721 intraciliary retrograde transport
Biological Process GO:0035735 intraciliary transport involved in cilium assembly
Biological Process GO:0001822 kidney development
Biological Process GO:0007018 microtubule-based movement
Biological Process GO:1905515 non-motile cilium assembly
Biological Process GO:0045880 positive regulation of smoothened signaling pathway
Biological Process GO:0061512 protein localization to cilium
Biological Process GO:0016485 protein processing
Biological Process GO:0021522 spinal cord motor neuron differentiation
molecular function GO:0005524 ATP binding
molecular function GO:0045505 dynein intermediate chain binding
molecular function GO:0051959 dynein light intermediate chain binding
molecular function GO:0003777 microtubule motor activity
molecular function GO:0003774 motor activity
cellular component GO:0045177 apical part of cell
cellular component GO:0005930 axoneme
cellular component GO:0097542 ciliary tip
cellular component GO:0005929 cilium
cellular component GO:0005868 cytoplasmic dynein complex
cellular component GO:0030286 dynein complex
cellular component GO:0070062 extracellular exosome
cellular component GO:0005794 Golgi apparatus
cellular component GO:0005874 microtubule
cellular component GO:0031514 motile cilium
cellular component GO:0005886 plasma membrane
Reactome
Pathway Id Pathway Name
R-HSA-162582 Signal Transduction
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-5358351 Signaling by Hedgehog
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5617833 Cilium Assembly
R-HSA-5620924 Intraflagellar transport
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000731 BXGD000002 Abdomen distended Digestive System Diseases
C0003466 BXGD000193 Anus, Imperforate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0004135 BXGD000257 Ataxia Telangiectasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0008924 BXGD000574 Cleft upper lip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0009714 BXGD000624 Hepatic Fibrosis, Congenital Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014850 BXGD000957 Esophageal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0016052 BXGD001040 Fibromuscular Dysplasia Cardiovascular Diseases
C0017636 BXGD001131 Glioblastoma Neoplasms
C0017638 BXGD001132 Glioma Neoplasms
C0020295 BXGD001372 Hydronephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020305 BXGD001374 Hydrops Fetalis Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0022595 BXGD001562 Keratosis Follicularis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0022658 BXGD001570 Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0022680 BXGD001576 Polycystic Kidney Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023508 BXGD001675 White Blood Cell Count procedure
C0024507 BXGD001779 Majewski Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0025995 BXGD001885 Micromelia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0026654 BXGD001914 Moyamoya Disease Nervous System Diseases; Cardiovascular Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0036069 BXGD002573 Saldino-Noonan Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036996 BXGD002655 Short Rib-Polydactyly Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0041296 BXGD002903 Tuberculosis Infections
C0079924 BXGD003103 Oligohydramnios Female Urogenital Diseases and Pregnancy Complications
C0085413 BXGD003171 Polycystic Kidney, Autosomal Dominant Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0152427 BXGD003590 Polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0220708 BXGD004328 VATER Association Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
C0220726 BXGD004333 Diastrophic dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0221357 BXGD004449 Brachydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0235831 BXGD004773 Renal Cell Dysplasia Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0235974 BXGD004796 Pancreatic carcinoma Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0239138 BXGD004966 Hip joint varus deformity - observation Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0263661 BXGD005338 Disorder of skeletal system Musculoskeletal Diseases
C0265275 BXGD005495 Jeune thoracic dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0265660 BXGD005561 Syndactyly of the toes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0266111 BXGD005620 Bifid tongue Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266231 BXGD005633 Ectopic anus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0266295 BXGD005645 Congenital hypoplasia of kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266362 BXGD005657 Ambiguous Genitalia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0266393 BXGD005662 Congenital duplication of uterus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266642 BXGD005705 Situs ambiguus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0268800 BXGD006041 Simple renal cyst Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0269133 BXGD006055 Urethrovaginal fistula Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0339864 BXGD007287 Bifid epiglottis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0346647 BXGD007832 Malignant neoplasm of pancreas Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0349588 BXGD007933 Short stature
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0426421 BXGD008561 Wide nose
C0426789 BXGD008576 Short thorax
C0426790 BXGD008577 Narrow thorax
C0426805 BXGD008580 Hooked clavicle
C0426817 BXGD008585 Short ribs
C0431904 BXGD008713 Ulnar polydactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432195 BXGD008732 Short rib dysplasia Musculoskeletal Diseases; Respiratory Tract Diseases
C0432197 BXGD008733 Short rib-polydactyly syndrome, Verma-Naumoff type Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0542518 BXGD009278 Enlarged kidney
C0576226 BXGD009527 Short foot
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0685787 BXGD009818 Cleft face Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0687120 BXGD009837 Nephronophthisis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0730328 BXGD009959 Central Serous Chorioretinopathy Eye Diseases
C0795690 BXGD010728 Congenital omphalocele Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0878659 BXGD011380 Disproportionate short stature Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C1257931 BXGD011815 Mammary Neoplasms, Human Neoplasms; Skin and Connective Tissue Diseases
C1305855 BXGD012348 Body mass index
C1386048 BXGD012950 Intrauterine retardation
C1395852 BXGD012991 Polydactyly preaxial type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1832983 BXGD013892 Absent or minimally ossified vertebral bodies
C1832988 BXGD013893 Metaphyseal spurs
C1836542 BXGD014129 Depressed nasal bridge
C1836996 BXGD014183 Disproportionate tall stature
C1837482 BXGD014237 Thoracic hypoplasia
C1842083 BXGD014494 Abnormality of the ribs
C1843108 BXGD014556 Short palm
C1846439 BXGD014817 Hypoplasia of the odontoid process Musculoskeletal Diseases
C1848673 BXGD014963 Hypoplastic feet
C1849039 BXGD014999 Metaphyseal widening
C1849367 BXGD015046 Nasal bridge wide
C1849437 BXGD015054 Mainzer-Saldino Disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C1849937 BXGD015091 Disproportionate short-limb short stature
C1854718 BXGD015427 J-shaped sella turcica
C1854912 BXGD015441 Short long bone
C1855340 BXGD015490 Bowing of the long bones
C1855694 BXGD015532 Hypoplasia of the primary teeth
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1859461 BXGD015895 Femoral bowing Musculoskeletal Diseases
C1860493 BXGD015987 Abnormality of the sternum
C1862475 BXGD016132 Abnormality of retinal pigmentation
C1865014 BXGD016282 Long philtrum
C1865037 BXGD016289 Cone-shaped epiphysis
C1865186 BXGD016296 Bell-shaped thorax
C2112129 BXGD016921 Postaxial foot polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2910340 BXGD017866 Asphyxiating thoracic dysplasia [Jeune]
C2919142 BXGD017867 Short Stature, CTCAE
C2931384 BXGD018014 Moyamoya disease 1 Nervous System Diseases; Cardiovascular Diseases
C3536714 BXGD019069 Renal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3808270 BXGD019543 Acetabular spurs
C3887499 BXGD019884 Renal cyst Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3897752 BXGD020054 Recurrent Childhood Glioblastoma
C4020847 BXGD020486 Abnormality of pelvic girdle bone morphology
C4021399 BXGD020628 Finger symphalangism
C4021525 BXGD020652 Abnormal pelvis bone ossification
C4021626 BXGD020703 Lethal skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4021780 BXGD020775 Abnormality of the liver
C4021792 BXGD020783 Abnormality of the clavicle
C4024597 BXGD021332 Aplasia/Hypoplasia involving the pelvis
C4024996 BXGD021518 Aplasia/Hypoplasia of the lungs
C4025814 BXGD021806 Abnormality of the metaphysis
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4277690 BXGD022377 Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C4288305 BXGD022480 Recurrent Glioblastoma Neoplasms
C4551856 BXGD023423 Asphyxiating Thoracic Dystrophy 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C4552766 BXGD023523 Miscarriage Female Urogenital Diseases and Pregnancy Complications
C4704874 BXGD023682 Mammary Carcinoma, Human Neoplasms; Skin and Connective Tissue Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein