Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] See more...
Aliases for EXT2 Gene
Aliases for EXT2 Gene
- Exostosin Glycosyltransferase 2 2 3 5
- Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
- N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase 2 3
- Putative Tumor Suppressor Protein EXT2 3 4
- Multiple Exostoses Protein 2 3 4
- Exostosin-2 3 4
- SOTV 2 3
External Ids for EXT2 Gene
- HGNC: 3513
- Entrez Gene: 2132
- Ensembl: ENSG00000151348
- OMIM: 608210
- UniProtKB: Q93063
Previous GeneCards Identifiers for EXT2 Gene
- GC11M045666
- GC11P044802
- GC11P044156
- GC11P044081
- GC11P044073
- GC11P043826
- GC11P044117
Summaries for EXT2 Gene
-
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for EXT2 Gene
EXT2 (Exostosin Glycosyltransferase 2) is a Protein Coding gene. Diseases associated with EXT2 include Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome and Exostoses, Multiple, Type Ii. Among its related pathways are Metabolism and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transferase activity, transferring glycosyl groups. An important paralog of this gene is EXT1.
UniProtKB/Swiss-Prot Summary for EXT2 Gene
-
Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
Additional gene information for EXT2 Gene
- HGNC(3513)
- Entrez Gene(2132)
- Ensembl(ENSG00000151348)
- OMIM(608210)
- UniProtKB(Q93063)
- Open Targets Platform(ENSG00000151348)
- Monarch Initiative
- Search for EXT2 at DataMed
- Search for EXT2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXT2 Gene
Genomics for EXT2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EXT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around EXT2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXT2
- Top Transcription factor binding sites by QIAGEN in the EXT2 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- E47
- Ik-2
- NF-1
- NF-1/L
Genomic Locations for EXT2 Gene
Genomic Locations for EXT2 Gene
- chr11:44,095,659-44,251,981
- (GRCh38/hg38)
- Size:
- 156,323 bases
- Orientation:
- Plus strand
- chr11:44,117,099-44,266,980
- (GRCh37/hg19)
- Size:
- 149,882 bases
- Orientation:
- Plus strand
Genomic View for EXT2 Gene
Genes around EXT2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p11.2 by HGNC
- 11p11.2 by Entrez Gene
- 11p11.2 by Ensembl
EXT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EXT2 Gene
Proteins for EXT2 Gene
-
Protein details for EXT2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q93063-EXT2_HUMAN
- Recommended name:
- Exostosin-2
- Protein Accession:
- Q93063
- B2R5Z6
- C9JU51
- J3KPT2
- O15288
Protein attributes for EXT2 Gene
- Size:
- 718 amino acids
- Molecular mass:
- 82255 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Forms a homo/hetero-oligomeric complex with EXT1. Interacts with GALNT5. Interacts with NDST1.
Protein Expression for EXT2 Gene
Post-translational modifications for EXT2 Gene
Other Protein References for EXT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for EXT2
-
Abcam antibodies for EXT2
- Invitrogen Antibodies for EXT2 (AFLGC-EXT2)
-
Boster Bio Antibodies for EXT2
-
Santa Cruz Biotechnology (SCBT) Antibodies for EXT2
Protein Products
-
OriGene Purified Proteins for EXT2
- Search Origene for MassSpec and Protein Over-expression Lysates for EXT2
- Origene Custom Protein Services for EXT2
-
Abcam proteins for EXT2
Assay Products
- antibodies-online: Show 5 available EXT2 Elisa Kits ranked by validation data
- Compare Top EXT2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for EXT2 Gene
Domains & Families for EXT2 Gene
Gene Families for EXT2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
Protein Domains for EXT2 Gene
- InterPro:
- Blocks:
-
- Exostosin-like
- ProtoNet:
Suggested Antigen Peptide Sequences for EXT2 Gene
- GenScript: Design optimal peptide antigens:
-
- Exostoses (Multiple) 2, isoform CRA_a (D3DR24_HUMAN)
- Putative tumor suppressor protein EXT2 (EXT2_HUMAN)
- Exostoses (Multiple) 2 (Q6NUL1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q93063- Family:
-
- Belongs to the glycosyltransferase 47 family.
Function for EXT2 Gene
Molecular function for EXT2 Gene
- UniProtKB/Swiss-Prot Function:
- Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-O-{[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-{alpha-D-GlcNAc-[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:16213, Rhea:RHEA-COMP:12621, Rhea:RHEA-COMP:12623, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:132415, ChEBI:CHEBI:132416; EC=2.4.1.224;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-O-{alpha-D-GlcNAc-[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-{[(1->4)-beta-D-GlcA-(1->4)-alpha-D-GlcNAc](n+1)-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl}-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:20908, Rhea:RHEA-COMP:12623, Rhea:RHEA-COMP:14295, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132415, ChEBI:CHEBI:132416; EC=2.4.1.225;.
- GENATLAS Biochemistry:
- exostoses multiple gene 2,expressed in chondrocyte,accumulating in the Golgi network,forming a stable complex with EXT1 and catalyzing the synthesis of heparan sulfate,highly homologous to EXT1,interacting with B3GALT5 in normal type not in mutated form,mutated in EXT2 and having tumor suppressor function (see TSG11G)
Enzyme Numbers (IUBMB) for EXT2 Gene
Phenotypes From GWAS Catalog for EXT2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 18337501 |
| GO:0008375 | contributes_to acetylglucosaminyltransferase activity | IEA,IDA | 12907669 |
| GO:0015020 | glucuronosyltransferase activity | IDA | 12907669 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IDA | 12907669 |
Phenotypes for EXT2 Gene
- MGI mutant phenotypes for EXT2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EXT2:
-
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV) infection
- Increased IL-8 secretion
- Decreased shRNA abundance
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased NF-kappaB reporter expression
- Increased shRNA abundance
Animal Models for EXT2 Gene
- MGI Knock Outs for EXT2:
-
- Ext2 Ext2<tm1Werb>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EXT2 - Select products 50% OFF >
- * EXT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EXT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EXT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EXT2
miRNA for EXT2 Gene
- miRTarBase miRNAs that target EXT2
-
- hsa-miR-26b-5p (MIRT029899)
- hsa-miR-34a-5p (MIRT047352)
- hsa-miR-4709-3p (MIRT483058)
- hsa-miR-548x-5p (MIRT483059)
- hsa-miR-548g-5p (MIRT483060)
- hsa-miR-548f-5p (MIRT483061)
- hsa-miR-548aj-5p (MIRT483062)
- hsa-miR-3185 (MIRT483063)
- hsa-miR-6837-5p (MIRT483064)
- hsa-miR-4685-5p (MIRT483065)
- hsa-miR-7843-5p (MIRT483066)
- hsa-miR-6879-5p (MIRT483067)
- hsa-miR-4632-5p (MIRT483068)
- hsa-miR-6735-5p (MIRT483069)
- hsa-miR-4436b-3p (MIRT483070)
- hsa-miR-548p (MIRT483071)
- hsa-miR-6753-5p (MIRT483072)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EXT2
- Browse OriGene Inhibitory RNA Products For EXT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXT2
Clone Products
- Applied Biological Materials (abm): Clones for EXT2 - Select products 50% OFF >
- * EXT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210261
- MR210261
- MR210261L3
- MR210261L4
- RC204067
- RC204067L3
- RC204067L4
- RC221426
- RC221426L1
- RC221426L2
- RC221426L3
- RC221426L4
- RC230461
- RC230461L3
- RC230461L4
- RG204067
- RG221426
- RG230461
- RR203496
- RR203496L3
- RR203496L4
- MR210261L3V
- MR210261L4V
- RC204067L3V
- RC204067L4V
- RC221426L1V
- RC221426L2V
- RC221426L3V
- RC221426L4V
- RC230461L3V
- RC230461L4V
- RR203496L3V
- RR203496L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EXT2
- Addgene plasmids for EXT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EXT2
Cell Line Products
-
Horizon Cell Lines for EXT2
No data available for Transcription Factor Targets and HOMER Transcription for EXT2 Gene
Localization for EXT2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EXT2 Gene
- Endoplasmic reticulum membrane. Single-pass type II membrane protein. Golgi apparatus membrane. Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| endoplasmic reticulum | 4 |
| golgi apparatus | 4 |
| plasma membrane | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Golgi apparatus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005783 | endoplasmic reticulum | ISS | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | 10639137 |
| GO:0005794 | Golgi apparatus | ISS | -- |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
Pathways & Interactions for EXT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosaminoglycan metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | heparan sulfate biosynthesis | ||
| 4 | Mesodermal Commitment Pathway | ||
Pathways by source for EXT2 Gene
1 BioSystems pathway for EXT2 Gene
5 Reactome pathways for EXT2 Gene
2 KEGG pathways for EXT2 Gene
UniProtKB/Swiss-Prot Q93063-EXT2_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for EXT2 Gene
GPS-Prot Interaction Network for EXT2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001503 | ossification | IMP | 9326317 |
| GO:0001707 | mesoderm formation | IEA | -- |
| GO:0006024 | glycosaminoglycan biosynthetic process | IDA,TAS | -- |
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0007165 | signal transduction | TAS | 10878610 |
No data available for SIGNOR curated interactions for EXT2 Gene
Drugs & Compounds for EXT2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Uridine diphosphate-N-acetylglucosamine |
|
528-04-1 |
|
Transcripts for EXT2 Gene
mRNA/cDNA for EXT2 Gene
- 3 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000343631 3424 nts (view in UCSC)
- ENST00000358681 2997 nts (view in UCSC)
- ENST00000395673 3454 nts (view in UCSC)
- ENST00000525559 448 nts (view in UCSC)
- ENST00000527014 580 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EXT2 - Select products 50% OFF >
- * EXT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EXT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EXT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for EXT2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EXT2
- Browse OriGene Inhibitory RNA Products For EXT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXT2
Clone Products
- Applied Biological Materials (abm): Clones for EXT2 - Select products 50% OFF >
- * EXT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG210261
- MR210261
- MR210261L3
- MR210261L4
- RC204067
- RC204067L3
- RC204067L4
- RC221426
- RC221426L1
- RC221426L2
- RC221426L3
- RC221426L4
- RC230461
- RC230461L3
- RC230461L4
- RG204067
- RG221426
- RG230461
- RR203496
- RR203496L3
- RR203496L4
- MR210261L3V
- MR210261L4V
- RC204067L3V
- RC204067L4V
- RC221426L1V
- RC221426L2V
- RC221426L3V
- RC221426L4V
- RC230461L3V
- RC230461L4V
- RR203496L3V
- RR203496L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EXT2
- Addgene plasmids for EXT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EXT2
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - |
Relevant External Links for EXT2 Gene
- GeneLoc Exon Structure for
- EXT2
Expression for EXT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
- Lung (Respiratory System)
- Bone (Muscoskeletal System)
-
Placenta (Extraembryonic Tissues)
This gene is overexpressed in Serum (28.8) and Amniocyte (28.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXT2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXT2
SOURCE GeneReport for Unigene cluster for EXT2 Gene:
Hs.368404mRNA Expression by UniProt/SwissProt for EXT2 Gene:
Q93063-EXT2_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for EXT2 Gene
- Nervous system(4.9)
- Lung(2.8)
- Skin(2.7)
- Kidney(2.5)
- Muscle(2.4)
- Bone(2.4)
- Heart(2.4)
- Liver(2.3)
- Intestine(2.1)
- Lymph node(2.1)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EXT2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- skull
- tooth
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
- penis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for EXT2
-
OriGene qPCR primer pairs and template standards for EXT2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for EXT2 Gene
Orthologs for EXT2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EXT2 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | EXT2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EXT2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ext2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | EXT2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ext2 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | EXT2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EXT2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ext2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ext2 30 31 |
|
OneToOne | |
| -- 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7391 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ext2 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000081 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany |
- Species where no ortholog for EXT2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for EXT2 Gene
- ENSEMBL:
- Gene Tree for EXT2 (if available)
- TreeFam:
- Gene Tree for EXT2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EXT2: view image
Paralogs for EXT2 Gene
Variants for EXT2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXT2 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638379 | Uncertain Significance: Multiple exostoses type 2; Seizures, scoliosis, and macrocephaly syndrome | 44,109,228(+) | A/G | MISSENSE_VARIANT | |
| 638619 | Pathogenic: Seizures, scoliosis, and macrocephaly syndrome | 44,234,131(+) | A/G | MISSENSE_VARIANT | |
| 640236 | Pathogenic: Multiple exostoses type 2 | 44,126,827(+) | CTG/C | FRAMESHIFT_VARIANT | |
| 649849 | Pathogenic: Multiple exostoses type 2 | 44,114,226(+) | G/C | MISSENSE_VARIANT | |
| 655909 | Pathogenic: Multiple exostoses type 2 | 44,171,624(+) | G/A | NONSENSE,INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3579496 | CNV | loss | 25503493 |
| esv3626159 | CNV | loss | 21293372 |
| nsv1043523 | CNV | gain | 25217958 |
| nsv554183 | CNV | gain | 21841781 |
| nsv832139 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.15;
51.57% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EXT2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXT2 Gene
Disorders for EXT2 Gene
(30) MalaCards diseases for EXT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| seizures, scoliosis, and macrocephaly/microcephaly syndrome |
|
|
| exostoses, multiple, type ii |
|
|
| exostoses, multiple, type i |
|
|
| inherited cancer-predisposing syndrome |
|
|
| hereditary multiple exostoses |
|
Search EXT2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EXT2_HUMAN- Hereditary multiple exostoses 2 (EXT2) [MIM:133701]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269 PubMed:10429361, ECO:0000269 PubMed:10480354, ECO:0000269 PubMed:10738008, ECO:0000269 PubMed:11169766, ECO:0000269 PubMed:11170095, ECO:0000269 PubMed:11432960, ECO:0000269 PubMed:11668521, ECO:0000269 PubMed:19344451, ECO:0000269 PubMed:9326317}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Potocki-Shaffer syndrome (POSHS) [MIM:601224]: A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases. Note=The gene represented in this entry is involved in disease pathogenesis.
- Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) [MIM:616682]: An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction. {ECO:0000269 PubMed:26246518}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for EXT2 Gene
exostoses,multiple,congenital,2,also associated with foramina parietalia permagma,craniosynostosis,micropenis,mental retardation in a contiguous gene syndrome with 11p-deletion (DEF11S)
Additional Disease Information for EXT2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for EXT2 Gene
- Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. (PMID: 10679296) Kobayashi S … Shirasawa T (Biochemical and biophysical research communications 2000) 3 4 23 41
- New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. (PMID: 19344451) Heinritz W … Froster UG (Annals of human genetics 2009) 3 4 23
- Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. (PMID: 17928989) Horikoshi M … Kadowaki T (Diabetologia 2007) 3 23 41
- An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. (PMID: 16283885) Wuyts W … Vits L (Clinical genetics 2005) 3 23 41
- Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. (PMID: 15586175) Vink GR … Bakker E (European journal of human genetics : EJHG 2005) 3 23 41
ExternalLinks
Products for EXT2 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for EXT2
- Search Origene for MassSpec and Protein Over-expression Lysates for EXT2
- Origene Custom Protein Services for EXT2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EXT2
- Browse OriGene Inhibitory RNA Products For EXT2
- OriGene qPCR primer pairs for EXT2
- OriGene qPCR primer pairs and template standards for EXT2
- OriGene CRISPR knockouts for EXT2
- MG210261
- MR210261
- MR210261L3
- MR210261L4
- RC204067
- RC204067L3
- RC204067L4
- RC221426
- RC221426L1
- RC221426L2
- RC221426L3
- RC221426L4
- RC230461
- RC230461L3
- RC230461L4
- RG204067
- RG221426
- RG230461
- RR203496
- RR203496L3
- RR203496L4
- MR210261L3V
- MR210261L4V
- RC204067L3V
- RC204067L4V
- RC221426L1V
- RC221426L2V
- RC221426L3V
- RC221426L4V
- RC230461L3V
- RC230461L4V
- RR203496L3V
- RR203496L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EXT2
- Sino Biological Human cDNA Clone for EXT2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EXT2
- Novus Biologicals proteins and lysates for EXT2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for EXT2
- Abcam proteins for EXT2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for EXT2 (AFLGC-EXT2)
- VectorBuilder Custom and pre-made DNA vectors for EXT2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EXT2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EXT2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EXT2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EXT2
- Addgene plasmids for EXT2
- antibodies-online: Show 18 available EXT2 Antibodies ranked by validation data
- Compare Top EXT2 Antibodies
- antibodies-online: Show 5 available EXT2 Elisa Kits ranked by validation data
- Compare Top EXT2 Elisa Kits
- Quality Products:
- antibodies-online: Show 5 available EXT2 Proteins ranked by validation data
- Compare Top EXT2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for EXT2
- Search Santa Cruz Biotechnology (SCBT) for EXT2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EXT2
- Horizon Cell Lines for EXT2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EXT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EXT2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EXT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXT2
- Boster Bio Antibodies for EXT2
- Browse Boster Bio ELISA Kits
Sources for EXT2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB