GBA (Q14878770)

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protein-coding gene in the species Homo sapiens

GBA1
GCB
GLUC
glucosylceramidase beta
Glucocerebrosidase

Language	Label	Description	Also known as
English	GBA	protein-coding gene in the species Homo sapiens	GBA1 GCB GLUC glucosylceramidase beta Glucocerebrosidase

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

3 October 2016

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

Glucosylceramidase beta

1 reference

16 March 2017

UniProt protein ID

genetic association

Gaucher's disease

2 references

28 December 2020

https://search.clinicalgenome.org/kb/gene-validity/fbc5a876-f97e-4f9c-be99-664e2f6c8470--2020-06-24T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbc5a876-f97e-4f9c-be99-664e2f6c8470-2020-06-24T160000.000Z

Parkinson's disease

1 reference

19 May 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9201c03f-10de-447c-9b84-194f14b549b6-2022-05-03T134810.206Z

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000177628/MONDO_0009268

based on heuristic

inferred from an Open Targets association score over 0.7

Gaucher's disease type I

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000177628/Orphanet_77259

based on heuristic

inferred from an Open Targets association score over 0.7

Gaucher's disease type II

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000177628/Orphanet_77260

based on heuristic

inferred from an Open Targets association score over 0.7

Gaucher's disease type III

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000177628/Orphanet_77261

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 1

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

155234452

human chromosome 1

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

155204243

human chromosome 1

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

155244699

human chromosome 1

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

155214490

human chromosome 1

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

cytogenetic location

1q22

1 reference

15 May 2022

68040

1 reference

15 May 2022

Gene Atlas image

PBB GE GBA 209093 s at fs.png
732 × 530; 12 KB

0 references

PBB GE GBA 210589 s at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

68040

1 reference

HomoloGene build68

68040

Caenorhabditis elegans

1 reference

HomoloGene build68

68040

Caenorhabditis elegans

1 reference

HomoloGene build68

68040

1 reference

HomoloGene build68

68040

Caenorhabditis elegans

1 reference

HomoloGene build68

68040

Caenorhabditis elegans

1 reference

HomoloGene build68

68040

stromal cell of endometrium

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

islet of Langerhans

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

pituitary gland

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

anterior pituitary

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

bone marrow cells

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

right adrenal gland

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

left adrenal gland

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000177628

http://identifiers.org/ncbigene/2629

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

15 May 2022

1 reference

15 May 2022

Encyclopædia Britannica Online ID

science/glucocerebrosidase

subject named as

glucocerebrosidase

0 references

Ensembl gene ID

ENSG00000262446

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENSG00000177628

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

Ensembl transcript ID

ENST00000327247

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000368373

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000427500

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000428024

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000460156

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000464536

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000467918

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000470104

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000473570

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000478472

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000484489

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000491081

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000493842

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000497670

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000570491

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000618489

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000572338

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000575321

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000573812

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000573492

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000571863

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000574670

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000571897

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000576421

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000570868

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000573998

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000576759

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000574935

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000570340

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

ENST00000613861

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000177628

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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