EXT2 (Q17917699)

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protein-coding gene in the species Homo sapiens

SOTV
SSMS
exostosin glycosyltransferase 2

Language	Label	Description	Also known as
English	EXT2	protein-coding gene in the species Homo sapiens	SOTV SSMS exostosin glycosyltransferase 2

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

3 October 2016

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

Exostosin glycosyltransferase 2

1 reference

6 July 2017

UniProt protein ID

1 reference

UniProt protein ID

21 March 2016

language of work or name

genetic association

Potocki–Shaffer syndrome

1 reference

UniProt protein ID

13 August 2019

exostoses, multiple, type 2

3 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/9e6829ce-3e0b-44c5-a214-756f33b1e948--2018-12-21T15:31:26

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e6829ce-3e0b-44c5-a214-756f33b1e948-2018-12-21T153126.680Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000151348/MONDO_0007586

based on heuristic

inferred from an Open Targets association score over 0.7

hereditary multiple exostoses

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000151348/EFO_0005560

based on heuristic

inferred from an Open Targets association score over 0.7

seizures-scoliosis-macrocephaly syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000151348/MONDO_0014731

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 11

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

44117099

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

44095648

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

44266979

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

44251962

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

cytogenetic location

11p11.2

1 reference

15 May 2022

345

1 reference

15 May 2022

Gene Atlas image

PBB GE EXT2 202013 s at fs.png
732 × 530; 11 KB

0 references

PBB GE EXT2 202012 s at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

345

1 reference

HomoloGene build68

345

Drosophila melanogaster

1 reference

HomoloGene build68

345

1 reference

HomoloGene build68

345

stromal cell of endometrium

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

smooth muscle tissue

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

islet of Langerhans

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

right coronary artery

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

ascending aorta

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

periodontal fiber

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

left uterine tube

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

left coronary artery

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000151348

http://identifiers.org/ncbigene/2132

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000151348

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

Ensembl transcript ID

ENST00000534048

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000343631

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000358681

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000395673

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000525559

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000528159

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000529186

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000531161

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000533608

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000683881

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000683000

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000684437

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000682993

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000683870

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000684124

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000682815

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000682711

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000682359

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000684533

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000683299

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000684039

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000683204

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

ENST00000682947

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000151348

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

13 June 2023

Sitelinks

Wikipedia(3 entries)

enwiki EXT2 (gene)
ttwiki EXT2
ukwiki EXT2

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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