(Q14908096)

English

ERCC2

protein-coding gene in the species Homo sapiens

excision repair cross-complementation group 2
COFS2
EM9
TFIIH
TTD
XPD
TTD1
ERCC excision repair 2, TFIIH core complex helicase subunit

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000104884

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ERCC excision repair 2, TFIIH core complex helicase subunit

1 reference

6 July 2017

UniProt protein ID

TFIIH basal transcription factor complex helicase XPD subunit

1 reference

UniProt protein ID

20 March 2016

language of work or name

genetic association

xeroderma pigmentosum group D

5 references

UniProt protein ID

13 August 2019

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/91d0c244-d958-4358-8b92-cefefbce3843--2019-04-19T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_91d0c244-d958-4358-8b92-cefefbce3843-2018-11-02T214605.275Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000104884/MONDO_0010212

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000104884/Orphanet_276258

based on heuristic

inferred from an Open Targets association score over 0.7

trichothiodystrophy syndromes

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000104884/MONDO_0018053

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 19

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

45349837

human chromosome 19

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

45853095

human chromosome 19

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

45370918

human chromosome 19

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

45874176

human chromosome 19

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

cytogenetic location

19q13.32

1 reference

15 May 2022

344

1 reference

15 May 2022

Gene Atlas image

PBB GE ERCC2 213468 at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

344

Saccharomyces cerevisiae S288c

1 reference

HomoloGene build68

344

1 reference

HomoloGene build68

344

1 reference

HomoloGene build68

344

Drosophila melanogaster

1 reference

HomoloGene build68

344

Caenorhabditis elegans

1 reference

HomoloGene build68

344

stromal cell of endometrium

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

right adrenal gland

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

left adrenal gland

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

ganglionic eminence

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

prefrontal cortex

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

anterior pituitary

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

right lobe of thyroid gland

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

cingulate gyrus

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

gastrocnemius muscle

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

left uterine tube

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000104884

http://identifiers.org/ncbigene/2068

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

10 April 2022

1 reference

10 April 2022

1 reference

15 May 2022

0 references

Ensembl gene ID

ENSG00000104884

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

Ensembl transcript ID

ENST00000591309

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000391941

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000391942

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000391944

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000391945

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000485403

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000586131

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000586441

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000586737

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000586856

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000587376

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000588652

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000646507

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000684264

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000684218

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000684407

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000684458

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000682414

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000684468

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

ENST00000682508

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000104884

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

15 June 2023

Sitelinks

Wikipedia(0 entries)

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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