(Q18038304)

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

In more languages

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Statements

1 reference

1 reference

1 reference

BSCL2 lipid droplet biogenesis associated, seipin

1 reference

6 July 2017

1 reference

21 March 2016

language of work or name

English

HCG2020143, isoform CRA_b

1 reference

20 March 2016

language of work or name

English

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

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

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

based on heuristic

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 11

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

genome assembly GRCh38

Genome assembly GRCh37

1 reference

62457747

Genome assembly GRCh37

1 reference

62689289

genome assembly GRCh38

1 reference

62709845

genome assembly GRCh38

1 reference

62477317

Genome assembly GRCh37

1 reference

11q12.3

1 reference

15 May 2022

32032

1 reference

15 May 2022

1 reference

32032

1 reference

32032

1 reference

32032

superior frontal gyrus

series ordinal

1

1 reference

20 April 2022

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

pituitary gland

series ordinal

2

1 reference

20 April 2022

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

anterior pituitary

series ordinal

3

1 reference

20 April 2022

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

Brodmann area 9

series ordinal

4

1 reference

20 April 2022

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

nucleus accumbens

series ordinal

5

1 reference

20 April 2022

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

caudate nucleus

series ordinal

6

1 reference

20 April 2022

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

hypothalamus

series ordinal

7

1 reference

20 April 2022

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

prefrontal cortex

series ordinal

8

1 reference

20 April 2022

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

putamen

series ordinal

9

1 reference

20 April 2022

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

cerebellar cortex

series ordinal

10

1 reference

20 April 2022

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

exact match

http://identifiers.org/ncbigene/26580

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

1 reference

15 May 2022

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15 May 2022

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15 May 2022

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15 May 2022

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15 May 2022

1 reference

15 May 2022

1 reference

Ensembl transcript ID

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0 references

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

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

Sitelinks

Wikipedia(3 entries)

enwiki BSCL2
ttwiki BSCL2
ukwiki BSCL2

(Q18038304)

BSCL2

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Identifiers

Sitelinks

Wikipedia(3 entries)

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Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

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Wiktionary(0 entries)

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