MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.4.1.224	Transferases; Glycosyltransferases; Hexosyltransferases; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-α-N-acetylglucosaminyltransferase
2.4.1.225	Transferases; Glycosyltransferases; Hexosyltransferases; N-acetylglucosaminyl-proteoglycan 4-β-glucuronosyltransferase

Structure

PDB	Resolution (Å)	PDB name
7SCH	3.1	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer
7SCJ	3.4	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with a 4-sugar oligosaccharide acceptor analog
7SCK	2.8	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with a 7-sugar oligosaccharide acceptor analog
7UQX	3.3	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with UDP-GlcNAc
7UQY	3.0	Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with UDP-GlcA
7ZAY	2.8	Human heparan sulfate polymerase complex EXT1-EXT2

GO term

GO ontology	GO term	GO description
Biological Process	GO:0044344	cellular response to fibroblast growth factor stimulus
Biological Process	GO:0002062	chondrocyte differentiation
Biological Process	GO:0060350	endochondral bone morphogenesis
Biological Process	GO:0042044	fluid transport
Biological Process	GO:0010467	gene expression
Biological Process	GO:0006024	glycosaminoglycan biosynthetic process
Biological Process	GO:0060047	heart contraction
Biological Process	GO:0015012	heparan sulfate proteoglycan biosynthetic process
Biological Process	GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
Biological Process	GO:0030210	heparin biosynthetic process
Biological Process	GO:0001707	mesoderm formation
Biological Process	GO:0050891	multicellular organismal-level water homeostasis
Biological Process	GO:0001503	ossification
Biological Process	GO:0000271	polysaccharide biosynthetic process
Biological Process	GO:0006487	protein N-linked glycosylation
Biological Process	GO:0008217	regulation of blood pressure
Biological Process	GO:0007165	signal transduction
Biological Process	GO:0055078	sodium ion homeostasis
Biological Process	GO:0051923	sulfation
Biological Process	GO:0042311	vasodilation
Molecular Function	GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
Molecular Function	GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
Molecular Function	GO:0015020	glucuronosyltransferase activity
Molecular Function	GO:0016757	glycosyltransferase activity
Molecular Function	GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0046982	protein heterodimerization activity
Cellular Component	GO:0005794	Golgi apparatus
Cellular Component	GO:0000139	Golgi membrane
Cellular Component	GO:0043541	UDP-N-acetylglucosamine transferase complex
Cellular Component	GO:0005783	endoplasmic reticulum
Cellular Component	GO:0005789	endoplasmic reticulum membrane
Cellular Component	GO:0070062	extracellular exosome
Cellular Component	GO:0016020	membrane

InterPro / Pfam

InterPro	InterPro name
IPR004263	Exostosin-like
IPR015338	Glycosyl transferase 64 domain
IPR029044	Nucleotide-diphospho-sugar transferases
IPR040911	Exostosin, GT47 domain

Pfam	Pfam name
PF03016	Exostosin family
PF09258	Glycosyl transferase family 64 domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-2022928	HS-GAG biosynthesis	Leaf	R-HSA-1430728	Metabolism
R-HSA-3656237	Defective EXT2 causes exostoses 2	Leaf	R-HSA-1643685	Disease
R-HSA-3656253	Defective EXT1 causes exostoses 1, TRPS2 and CHDS	Leaf	R-HSA-1643685	Disease

Subcellular location

Location	ECO term	Pubmed
Endoplasmic reticulum membrane	ECO:0000269	PubMed:10679296
Golgi apparatus membrane	ECO:0000269	PubMed:10679296
Golgi apparatus, cis-Golgi network membrane	ECO:0000269	PubMed:35137078

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000016	Urinary retention
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000077	Abnormality of the kidney
HP:0000093	Proteinuria
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000356	Abnormality of the outer ear
HP:0000384	Preauricular skin tag
HP:0000414	Bulbous nose
HP:0000426	Prominent nasal bridge
HP:0000430	Underdeveloped nasal alae
HP:0000437	Depressed nasal tip
HP:0000455	Broad nasal tip
HP:0000486	Strabismus
HP:0000639	Nystagmus
HP:0000717	Autism
HP:0000729	Autistic behavior
HP:0000733	Abnormal repetitive mannerisms
HP:0000750	Delayed speech and language development
HP:0000821	Hypothyroidism
HP:0000822	Hypertension
HP:0000823	Delayed puberty
HP:0000826	Precocious puberty
HP:0000896	Rib exostoses
HP:0000918	Scapular exostoses
HP:0000951	Abnormality of the skin
HP:0001191	Abnormal carpal morphology
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001342	Cerebral hemorrhage
HP:0001369	Arthritis
HP:0001376	Limitation of joint mobility
HP:0001561	Polyhydramnios
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001643	Patent ductus arteriosus
HP:0001763	Pes planus
HP:0001845	Overlapping toe
HP:0001850	Abnormality of the tarsal bones
HP:0001903	Anemia
HP:0002015	Dysphagia
HP:0002018	Nausea
HP:0002019	Constipation
HP:0002020	Gastroesophageal reflux
HP:0002036	Hiatus hernia
HP:0002107	Pneumothorax
HP:0002136	Broad-based gait
HP:0002144	Tethered cord
HP:0002164	Nail dysplasia
HP:0002176	Spinal cord compression
HP:0002317	Unsteady gait
HP:0002318	Cervical myelopathy
HP:0002342	Intellectual disability, moderate
HP:0002465	Poor speech
HP:0002505	Loss of ambulation
HP:0002566	Intestinal malrotation
HP:0002580	Volvulus
HP:0002650	Scoliosis
HP:0002667	Nephroblastoma
HP:0002673	Coxa valga
HP:0002697	Parietal foramina
HP:0002714	Downturned corners of mouth
HP:0002762	Multiple exostoses
HP:0002763	Abnormal cartilage morphology
HP:0002812	Coxa vara
HP:0002815	Abnormality of the knee
HP:0002823	Abnormality of femur morphology
HP:0002857	Genu valgum
HP:0002991	Abnormality of fibula morphology
HP:0002992	Abnormality of tibia morphology
HP:0003016	Metaphyseal widening
HP:0003026	Short long bone
HP:0003068	Madelung-like forearm deformities
HP:0003105	Protuberances at ends of long bones
HP:0003276	Pelvic bone exostoses
HP:0003326	Myalgia
HP:0003330	Abnormal bone structure
HP:0003396	Syringomyelia
HP:0003406	Peripheral nerve compression
HP:0003474	Somatic sensory dysfunction
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003959	Deformed forearm bones
HP:0003977	Deformed radius
HP:0004209	Clinodactyly of the 5th finger
HP:0004302	Functional motor deficit
HP:0004322	Short stature
HP:0004331	Decreased skull ossification
HP:0004349	Reduced bone mineral density
HP:0004425	Flat forehead
HP:0004684	Talipes valgus
HP:0005214	Intestinal obstruction
HP:0005326	Hypoplastic philtrum
HP:0005922	Abnormal hand morphology
HP:0006385	Short lower limbs
HP:0006487	Bowing of the long bones
HP:0006765	Chondrosarcoma
HP:0008070	Sparse hair
HP:0008443	Neuropathic spinal arthropathy
HP:0008800	Limited hip movement
HP:0009821	Forearm undergrowth
HP:0009826	Limb undergrowth
HP:0010049	Short metacarpal
HP:0010501	Limitation of knee mobility
HP:0010535	Sleep apnea
HP:0010864	Intellectual disability, severe
HP:0011220	Prominent forehead
HP:0011463	Childhood onset
HP:0011968	Feeding difficulties
HP:0012151	Hemothorax
HP:0012531	Pain
HP:0020110	Bone fracture
HP:0025232	Bursitis
HP:0030431	Osteochondroma
HP:0030680	Abnormality of cardiovascular system morphology
HP:0030883	Femoroacetabular impingement
HP:0031625	Pseudoaneurysm
HP:0032510	Tendon pain
HP:0040069	Abnormal lower limb bone morphology
HP:0040071	Abnormal morphology of ulna
HP:0040163	Abnormal pelvis bone morphology
HP:0040183	Encopresis
HP:0100555	Asymmetric growth
HP:0100559	Lower limb asymmetry
HP:0100749	Chest pain
HP:0100777	Exostoses

Tissue and cell type

Disease

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
exostoses, multiple, type 2	MONDO:0007586	Q78	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:133701
potocki-shaffer syndrome	MONDO:0011022	Q93	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:601224	Orphanet:52022
seizures-scoliosis-macrocephaly syndrome	MONDO:0014731	E77	chapter4, Endocrine, nutritional and metabolic diseases	OMIM:616682	Orphanet:466926

Summary of Q93063

Gene: EXT2
Protein: Exostosin-2

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q93063

Gene: EXT2 Protein: Exostosin-2

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: EXT2
Protein: Exostosin-2