Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.4.-.-
Transferases;
Glycosyltransferases;
;
2.4.1.-
Transferases;
Glycosyltransferases;
Hexosyltransferases;
2.4.2.-
Transferases;
Glycosyltransferases;
Pentosyltransferases;
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006044 | N-acetylglucosamine metabolic process |
| Biological Process | GO:0095500 | acetylcholine receptor signaling pathway |
| Biological Process | GO:0048708 | astrocyte differentiation |
| Biological Process | GO:0071711 | basement membrane organization |
| Biological Process | GO:0001568 | blood vessel development |
| Biological Process | GO:0055013 | cardiac muscle cell development |
| Biological Process | GO:0007268 | chemical synaptic transmission |
| Biological Process | GO:0007010 | cytoskeleton organization |
| Biological Process | GO:0021542 | dentate gyrus development |
| Biological Process | GO:0010467 | gene expression |
| Biological Process | GO:0009101 | glycoprotein biosynthetic process |
| Biological Process | GO:0006688 | glycosphingolipid biosynthetic process |
| Biological Process | GO:0046716 | muscle cell cellular homeostasis |
| Biological Process | GO:0021675 | nerve development |
| Biological Process | GO:0001764 | neuron migration |
| Biological Process | GO:0007009 | plasma membrane organization |
| Biological Process | GO:0043687 | post-translational protein modification |
| Biological Process | GO:0071805 | potassium ion transmembrane transport |
| Biological Process | GO:0021740 | principal sensory nucleus of trigeminal nerve development |
| Biological Process | GO:0006493 | protein O-linked glycosylation |
| Biological Process | GO:0035269 | protein O-linked mannosylation |
| Biological Process | GO:0006486 | protein glycosylation |
| Biological Process | GO:0072657 | protein localization to membrane |
| Biological Process | GO:0006468 | protein phosphorylation |
| Biological Process | GO:0065003 | protein-containing complex assembly |
| Biological Process | GO:0150103 | reactive gliosis |
| Biological Process | GO:0043393 | regulation of protein binding |
| Biological Process | GO:0009612 | response to mechanical stimulus |
| Biological Process | GO:0010842 | retina layer formation |
| Biological Process | GO:0061298 | retina vasculature development in camera-type eye |
| Biological Process | GO:0048741 | skeletal muscle fiber development |
| Biological Process | GO:0060538 | skeletal muscle organ development |
| Biological Process | GO:0043403 | skeletal muscle tissue regeneration |
| Biological Process | GO:0051124 | synaptic assembly at neuromuscular junction |
| Biological Process | GO:0006833 | water transport |
| Molecular Function | GO:0035252 | UDP-xylosyltransferase activity |
| Molecular Function | GO:0008375 | acetylglucosaminyltransferase activity |
| Molecular Function | GO:0015020 | glucuronosyltransferase activity |
| Molecular Function | GO:0016757 | glycosyltransferase activity |
| Molecular Function | GO:0016758 | hexosyltransferase activity |
| Molecular Function | GO:0030145 | manganese ion binding |
| Molecular Function | GO:0042285 | xylosyltransferase activity |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0000139 | Golgi membrane |
| Cellular Component | GO:0031594 | neuromuscular junction |
| Cellular Component | GO:0005886 | plasma membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-5083627 | Defective LARGE causes MDDGA6 and MDDGB6 | Leaf | R-HSA-1643685 | Disease |
| R-HSA-5173105 | O-linked glycosylation | Internal node | R-HSA-392499 | Metabolism of proteins |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Golgi apparatus membrane | ECO:0000269 | PubMed:15661757 |
| Golgi apparatus membrane | ECO:0000269 | PubMed:15958417 |
| Golgi apparatus membrane | ECO:0000269 | PubMed:25279699 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000050 | Hypoplastic male external genitalia |
| HP:0000054 | Micropenis |
| HP:0000110 | Renal dysplasia |
| HP:0000158 | Macroglossia |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000204 | Cleft upper lip |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000298 | Mask-like facies |
| HP:0000340 | Sloping forehead |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000411 | Protruding ear |
| HP:0000413 | Atresia of the external auditory canal |
| HP:0000478 | Abnormality of the eye |
| HP:0000482 | Microcornea |
| HP:0000485 | Megalocornea |
| HP:0000486 | Strabismus |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000518 | Cataract |
| HP:0000519 | Developmental cataract |
| HP:0000528 | Anophthalmia |
| HP:0000541 | Retinal detachment |
| HP:0000545 | Myopia |
| HP:0000556 | Retinal dystrophy |
| HP:0000557 | Buphthalmos |
| HP:0000568 | Microphthalmia |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000587 | Abnormal optic nerve morphology |
| HP:0000589 | Coloboma |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0000612 | Iris coloboma |
| HP:0000618 | Blindness |
| HP:0000648 | Optic atrophy |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0000659 | Peters anomaly |
| HP:0000666 | Horizontal nystagmus |
| HP:0000707 | Abnormality of the nervous system |
| HP:0001105 | Retinal atrophy |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001276 | Hypertonia |
| HP:0001284 | Areflexia |
| HP:0001288 | Gait disturbance |
| HP:0001290 | Generalized hypotonia |
| HP:0001302 | Pachygyria |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001319 | Neonatal hypotonia |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001324 | Muscle weakness |
| HP:0001328 | Specific learning disability |
| HP:0001331 | Absent septum pellucidum |
| HP:0001335 | Bimanual synkinesia |
| HP:0001339 | Lissencephaly |
| HP:0001344 | Absent speech |
| HP:0001360 | Holoprosencephaly |
| HP:0001371 | Flexion contracture |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
| HP:0001608 | Abnormality of the voice |
| HP:0001771 | Achilles tendon contracture |
| HP:0002023 | Anal atresia |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002085 | Occipital encephalocele |
| HP:0002093 | Respiratory insufficiency |
| HP:0002119 | Ventriculomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002126 | Polymicrogyria |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002187 | Intellectual disability, profound |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002334 | Abnormal cerebellar vermis morphology |
| HP:0002353 | EEG abnormality |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0002435 | Meningocele |
| HP:0002438 | Cerebellar malformation |
| HP:0002465 | Poor speech |
| HP:0002505 | Loss of ambulation |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0002536 | Abnormal cortical gyration |
| HP:0002650 | Scoliosis |
| HP:0002803 | Congenital contracture |
| HP:0002827 | Hip dislocation |
| HP:0002828 | Multiple joint contractures |
| HP:0002878 | Respiratory failure |
| HP:0002987 | Elbow flexion contracture |
| HP:0003198 | Myopathy |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003327 | Axial muscle weakness |
| HP:0003457 | EMG abnormality |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003487 | Babinski sign |
| HP:0003549 | Abnormality of connective tissue |
| HP:0003560 | Muscular dystrophy |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003701 | Proximal muscle weakness |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0003741 | Congenital muscular dystrophy |
| HP:0004322 | Short stature |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0004637 | Decreased cervical spine mobility |
| HP:0006829 | Severe muscular hypotonia |
| HP:0006888 | Meningoencephalocele |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0007015 | Poor gross motor coordination |
| HP:0007033 | Cerebellar dysplasia |
| HP:0007063 | Aplasia of the inferior half of the cerebellar vermis |
| HP:0007082 | Dilated third ventricle |
| HP:0007227 | Macrogyria |
| HP:0007260 | Type II lissencephaly |
| HP:0007291 | Posterior fossa cyst |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007361 | Abnormal pons morphology |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0007957 | Corneal opacity |
| HP:0007973 | Retinal dysplasia |
| HP:0008081 | Pes valgus |
| HP:0008443 | Neuropathic spinal arthropathy |
| HP:0008551 | Microtia |
| HP:0008736 | Hypoplasia of penis |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0009473 | Joint contracture of the hand |
| HP:0010508 | Metatarsus valgus |
| HP:0010628 | Facial palsy |
| HP:0010864 | Intellectual disability, severe |
| HP:0011484 | Posterior synechiae of the anterior chamber |
| HP:0011968 | Feeding difficulties |
| HP:0012110 | Hypoplasia of the pons |
| HP:0012400 | Abnormal circulating aldolase concentration |
| HP:0012793 | Kinked brainstem |
| HP:0025336 | Delayed ability to sit |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration |
| HP:0030046 | Hypoglycosylation of alpha-dystroglycan |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan |
| HP:0030197 | Fatigable weakness of skeletal muscles |
| HP:0031882 | Agyria |
| HP:0031936 | Delayed ability to walk |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
| HP:0040081 | Abnormal circulating creatine kinase concentration |
| HP:0040173 | Abnormality of the tongue muscle |
| HP:0045040 | Abnormal lactate dehydrogenase level |
| HP:0100022 | Abnormality of movement |
| HP:0100297 | Increased endomysial connective tissue |
| HP:0100543 | Cognitive impairment |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| muscular dystrophy-dystroglycanopathy type b6 | MONDO:0012138 | G71 | chapter6, Diseases of the nervous system | OMIM:608840 | Orphanet:370968 |
| muscular dystrophy-dystroglycanopathy type b6 | MONDO:0012138 | G71 | chapter6, Diseases of the nervous system | OMIM:608840 | Orphanet:98894 |
| muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a6 | MONDO:0013158 | Q04 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:613154 | Orphanet:899 |
| congenital muscular dystrophy with intellectual disability | MONDO:0018278 | G71 | chapter6, Diseases of the nervous system | Orphanet:370968 | |
| retinitis pigmentosa | MONDO:0019200 | H35 | chapter7, Diseases of the eye and adnexa | OMIM:268000 | Orphanet:791 |
| retinitis pigmentosa | MONDO:0019200 | H35 | chapter7, Diseases of the eye and adnexa | OMIMPS:268000 | Orphanet:791 |