(Q18048099)

English

HPS4

protein-coding gene in the species Homo sapiens

LE
BLOC3S2
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

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Statements

1 reference

1 reference

1 reference

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

1 reference

6 July 2017

Hermansky-Pudlak syndrome 4, isoform CRA_b

1 reference

21 March 2016

language of work or name

English

genetic association

Hermansky-Pudlak syndrome 4

3 references

13 August 2019

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/3649fe18-730d-4d46-ad60-b70d421abc02--2020-05-27T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3649fe18-730d-4d46-ad60-b70d421abc02-2020-05-27T160000.000Z

Hermansky-Pudlak syndrome with pulmonary fibrosis

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000100099/MONDO_0016501

based on heuristic

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 22

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

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genome assembly GRCh38

Genome assembly GRCh37

1 reference

26443423

genome assembly GRCh38

1 reference

26839389

Genome assembly GRCh37

1 reference

26483837

genome assembly GRCh38

1 reference

26879803

Genome assembly GRCh37

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22q12.1

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9 January 2022

11123

1 reference

9 January 2022

PBB GE HPS4 54037 at fs.png
732 × 530; 11 KB

0 references

PBB GE HPS4 218402 s at fs.png
732 × 530; 12 KB

0 references

1 reference

11123

1 reference

11123

cerebellar hemisphere

series ordinal

1

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

sural nerve

series ordinal

2

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

skin of abdomen

series ordinal

3

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

right uterine tube

series ordinal

4

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

anterior pituitary

series ordinal

5

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

body of pancreas

series ordinal

6

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

gastric mucosa

series ordinal

7

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

ganglionic eminence

series ordinal

8

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

tibia

series ordinal

9

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

left lobe of thyroid gland

series ordinal

10

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000100099

exact match

http://identifiers.org/ncbigene/89781

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

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Ensembl transcript ID

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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(5 entries)

arwiki HPS4
arzwiki HPS4
enwiki HPS4
ttwiki HPS4
ukwiki HPS4

(Q18048099)

HPS4

Statements

Identifiers

Sitelinks

Wikipedia(5 entries)

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Wikisource(0 entries)

Wikiversity(0 entries)

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