ALPL

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protein-coding gene in the species Homo sapiens

Välised allikad

Microsoft Academic ID	2778657814
Ensembl transcript ID	ENST00000540617^[1] ENST00000374829^[1] ENST00000374830^[1] ENST00000374832^[1] ENST00000374840^[1] ENST00000468526^[1] ENST00000539907^[1]
Entrez Gene ID	249^[2]
HGNC gene symbol	ALPL^[2]
Ensembl gene ID	ENSG00000162551^[1]
UMLS CUI	C1412364^[3]
RefSeq RNA ID	NM_000478^[2] NM_001127501^[2] NM_001177520^[2] XM_017000903^[2] NM_001369803^[2] NM_001369804^[2] NM_001369805^[2]
OMIM ID	171760^[4]
HGNC ID	438^[2]
PDB structure ID	7YIV 7YIW
Freebase	/m/03c_rq5

üksikjuht nähtusest

geen^[1]

mille alamklass

protein-coding gene^[5]

found in taxon

Homo sapiens^[1]

encodes

Alkaline phosphatase, biomineralization associated^[6]

genetic association

Reumatoidartriit^[7]

määramismeetod: Ülegenoomne assotsiatsiooniuuring, TAS

adult hypophosphatasia^[8]

infantile hypophosphatasia^[9]

hypophosphatasia^[10]

chromosome

1. kromosoom^[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand^[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

21835858^[1]

chromosome: 1. kromosoom

genomic assembly: Genome assembly GRCh37

21509397^[1]

chromosome: 1. kromosoom

genomic assembly: genome assembly GRCh38

genomic end

21904905^[1]

chromosome: 1. kromosoom

genomic assembly: Genome assembly GRCh37

21578410^[1]

chromosome: 1. kromosoom

genomic assembly: genome assembly GRCh38

cytogenetic location

1p36.12^[2]

HomoloGene ID

37314^[2]

Gene Atlas image

ortholog

Alpl^[11]^[12]

found in taxon: koduhiir

Alpl^[11]^[12]

found in taxon: rändrott

alp3^[11]

found in taxon: Danio rerio

phu^[11]

found in taxon: Harilik äädikakärbes

expressed in

right adrenal gland^[13]

järjekorranumber: 1

right adrenal cortex^[13]

järjekorranumber: 2

left adrenal cortex^[13]

järjekorranumber: 3

right lobe of liver^[13]

järjekorranumber: 4

upper lobe of lung^[13]

järjekorranumber: 5

upper lobe of left lung^[13]

järjekorranumber: 6

Sugunääre^[13]

järjekorranumber: 7

veri^[13]

järjekorranumber: 8

right lung^[13]

järjekorranumber: 9

lower lobe of lung^[13]

järjekorranumber: 10

täpne vaste

http://identifiers.org/ncbigene/249^[14]

Viited

↑ ^1,00 ^1,01 ^1,02 ^1,03 ^1,04 ^1,05 ^1,06 ^1,07 ^1,08 ^1,09 ^1,10 ^1,11 ^1,12 ^1,13 ^1,14 ^1,15 ensembl Release 106, ENSG00000162551
↑ ^2,00 ^2,01 ^2,02 ^2,03 ^2,04 ^2,05 ^2,06 ^2,07 ^2,08 ^2,09 ^2,10 ^2,11 NCBI Gene, 15. mai 2022, 249
↑ UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata
↑ Online Mendelian Inheritance in Man, 19. august 2019
↑ Ensembl Release 87, ENSG00000162551
↑ UniProt, 6. juuli 2017, P05186
↑ Phenocarta, Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis, https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_7148&ncbiId=249, http://www.genome.gov/gwastudies/index.cfm?gene=ALPL, 25. mai 2020
↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000162551/EFO_0021431, inferred from an Open Targets association score over 0.7
↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000162551/EFO_0021797, inferred from an Open Targets association score over 0.7
↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000162551/MONDO_0018570, inferred from an Open Targets association score over 0.7
↑ ^11,0 ^11,1 ^11,2 ^11,3 HomoloGene build68, 37314
↑ ^12,0 ^12,1 Orthologous MAtrix, https://omabrowser.org/oma/vps/P05186/
↑ ^13,00 ^13,01 ^13,02 ^13,03 ^13,04 ^13,05 ^13,06 ^13,07 ^13,08 ^13,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000162551
↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

[rdec0a6b6-1] 1,00 ^1,01 ^1,02 ^1,03 ^1,04 ^1,05 ^1,06 ^1,07 ^1,08 ^1,09 ^1,10 ^1,11 ^1,12 ^1,13 ^1,14 ^1,15 ensembl Release 106, ENSG00000162551

[r43ff3485-2] 2,00 ^2,01 ^2,02 ^2,03 ^2,04 ^2,05 ^2,06 ^2,07 ^2,08 ^2,09 ^2,10 ^2,11 NCBI Gene, 15. mai 2022, 249

[r883d5def-3] UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata

[r62b943a2-4] Online Mendelian Inheritance in Man, 19. august 2019

[r35671a9d-5] Ensembl Release 87, ENSG00000162551

[rc79117e3-6] UniProt, 6. juuli 2017, P05186

[rc8434853-7] Phenocarta, Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis, https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_7148&ncbiId=249, http://www.genome.gov/gwastudies/index.cfm?gene=ALPL, 25. mai 2020

[r2ba02f2b-8] Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000162551/EFO_0021431, inferred from an Open Targets association score over 0.7

[rcf73e6f6-9] Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000162551/EFO_0021797, inferred from an Open Targets association score over 0.7

[r581dbaa1-10] Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000162551/MONDO_0018570, inferred from an Open Targets association score over 0.7

[r958778b6-11] 11,0 ^11,1 ^11,2 ^11,3 HomoloGene build68, 37314

[r0e06341c-12] 12,0 ^12,1 Orthologous MAtrix, https://omabrowser.org/oma/vps/P05186/

[r3b141511-13] 13,00 ^13,01 ^13,02 ^13,03 ^13,04 ^13,05 ^13,06 ^13,07 ^13,08 ^13,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000162551

[r99e80de4-14] Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

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