BSCL2 (Q18038304)

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protein-coding gene in the species Homo sapiens

GNG3LG
HMN5
PELD
SPG17
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSCL2, seipin lipid droplet biogenesis associated
BSCL2 lipid droplet biogenesis associated, seipin
HMN5C

Language	Label	Description	Also known as
English	BSCL2	protein-coding gene in the species Homo sapiens	GNG3LG HMN5 PELD SPG17 Berardinelli-Seip congenital lipodystrophy 2 (seipin) BSCL2, seipin lipid droplet biogenesis associated BSCL2 lipid droplet biogenesis associated, seipin HMN5C

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000168000

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

BSCL2 lipid droplet biogenesis associated, seipin

1 reference

6 July 2017

UniProt protein ID

1 reference

UniProt protein ID

21 March 2016

language of work or name

HCG2020143, isoform CRA_b

1 reference

UniProt protein ID

20 March 2016

language of work or name

genetic association

Distal hereditary motor neuropathies

1 reference

19 May 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_02472719-c26d-40ff-8ad4-897ef7a6800a-2021-09-23T001322.660Z

severe neurodegenerative syndrome with lipodystrophy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000168000/MONDO_0014402

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

ENSG00000168000

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

62457747

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

62689289

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

62709845

human chromosome 11

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

62477317

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

cytogenetic location

11q12.3

1 reference

15 May 2022

32032

1 reference

15 May 2022

1 reference

HomoloGene build68

32032

1 reference

HomoloGene build68

32032

1 reference

HomoloGene build68

32032

superior frontal gyrus

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

pituitary gland

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

anterior pituitary

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

Brodmann area 9

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

nucleus accumbens

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

caudate nucleus

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

prefrontal cortex

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

cerebellar cortex

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000168000

http://identifiers.org/ncbigene/26580

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

Ensembl gene ID

ENSG00000168000

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

Ensembl transcript ID

ENST00000537604

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000278893

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000301781

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000360796

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000403098

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000403550

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000405837

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000407022

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000412351

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000413908

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000421906

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000448568

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000449636

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000463679

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000464544

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000468505

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000470529

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000524862

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000526426

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000528874

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000530009

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000530900

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000531524

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000532115

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000532818

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000533982

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000679883

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000683368

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000683846

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000682262

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000683494

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000683193

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000684258

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000683892

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000684475

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000684067

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000684285

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000682644

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000684115

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000682223

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000684720

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000683296

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000683025

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000682003

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000684609

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000682555

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

ENST00000682794

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000168000

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

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(3 entries)

enwiki BSCL2
ttwiki BSCL2
ukwiki BSCL2

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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