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EXTL2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
EXTL2
Available structures
PDB Ortholog search: PDBe RCSB
List of PDB id codes

1OMX, 1OMZ, 1ON6, 1ON8

Identifiers
Aliases EXTL2 , EXTR2, exostosin-like glycosyltransferase 2, exostosin like glycosyltransferase 2
External IDsOMIM: 602411; MGI: 1889574; HomoloGene: 1102; GeneCards: EXTL2; OMA:EXTL2 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr. Chromosome 1 (human) [1]
Band 1p21.2Start100,872,372 bp [1]
End100,895,179 bp [1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr. Chromosome 3 (mouse)[2]
Band 3|3 G1Start115,801,111 bp [2]
End115,822,666 bp [2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
  • periodontal fiber

  • postcentral gyrus

  • Brodmann area 46

  • lateral nuclear group of thalamus

  • ventricular zone

  • right adrenal cortex

  • superior frontal gyrus

  • left adrenal gland

  • left adrenal cortex

  • stromal cell of endometrium
  • facial motor nucleus

  • motor neuron

  • substantia nigra

  • anterior horn of spinal cord

  • lobe of cerebellum

  • cerebellar vermis

  • pineal gland

  • habenula

  • deep cerebellar nuclei

  • medial vestibular nucleus
More reference expression data
BioGPS
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2135

58193

Ensembl

ENSG00000162694

ENSMUSG00000027963

UniProt

Q9UBQ6

Q9ES89

RefSeq (mRNA)

NM_001033025
NM_001261440
NM_001261441
NM_001261442
NM_001439

NM_001163514
NM_001163515
NM_021388

RefSeq (protein)

NP_001028197
NP_001248369
NP_001248370
NP_001248371
NP_001430

NP_001156986
NP_001156987
NP_067363

Location (UCSC)Chr 1: 100.87 – 100.9 Mb Chr 3: 115.8 – 115.82 Mb
PubMed search[3] [4]
Wikidata

Exostosin-like 2 is a protein that in humans is encoded by the EXTL2 gene.[5] [6] [7] EXTL2 Glycosyltransferase is required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains. (https://www.phosphosite.org/overviewExecuteAction?id=5020882)

References

[edit ]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000162694Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027963Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ (Mar 1998). "Identification and characterization of a novel member of the EXT gene family, EXTL2". Eur J Hum Genet. 5 (6): 382–9. doi:10.1159/000484796. PMID 9450183.
  6. ^ Sobhany M, Dong J, Negishi M (Jun 2005). "Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase". J Biol Chem. 280 (25): 23441–5. doi:10.1074/jbc.M413379200 . PMID 15831490.
  7. ^ "Entrez Gene: EXTL2 exostoses (multiple)-like 2".

Further reading

[edit ]
[edit ]
  • PDBe-KB provides an overview of all the structure information available in the PDB for Mouse Exostosin-like 2


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