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LAMA3

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protein-coding gene in the species Homo sapiens

Välised allikad

Freebase
/m/02kg6pw
Ensembl transcript ID
ENST00000592519[1]
ENST00000269217[1]
ENST00000313654[1]
ENST00000399516[1]
ENST00000585600[1]
ENST00000586709[1]
ENST00000586751[1]
ENST00000587184[1]
ENST00000588004[1]
ENST00000588164[1]
ENST00000588770[1]
ENST00000590104[1]
ENST00000591749[1]
ENST00000592442[1]
ENST00000649721[1]
Entrez Gene ID
3909[2]
UMLS CUI
C1416777[3]
Ensembl gene ID
ENSG00000053747[1]
OMIM ID
600805[4]
HGNC ID
6483[2]
HGNC gene symbol
LAMA3[2]
RefSeq RNA ID
XM_011525982[2]
NM_000227[2]
NM_001127717[2]
NM_001127718[2]
NM_001302996[2]
NM_198129[2]
NR_130106[2]
XM_011525978[2]
XM_011525979[2]
XM_011525980[2]
XM_011525981[2]
XM_017025743[2]
XM_017025744[2]
XM_047437503[5]
XM_047437504[5]
XM_047437505[5]
XM_047437506[5]

üksikjuht nähtusest

geen[1]

mille alamklass

protein-coding gene[6]

found in taxon

Homo sapiens[1]

encodes

Laminin subunit alpha 3[7]
Laminin subunit alpha-3[8]

genetic association

Amüotroofne lateraalskleroos[9]

määramismeetod: Ülegenoomne assotsiatsiooniuuring, TAS

Laryngoonychocutaneous syndrome[10][11][12]
junctional epidermolysis bullosa Herlitz type[13]

chromosome

human chromosome 18[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

21269407[1]

chromosome: human chromosome 18

genomic assembly: Genome assembly GRCh37

23689453[1]

chromosome: human chromosome 18

genomic assembly: genome assembly GRCh38

genomic end

21535030[1]

chromosome: human chromosome 18

genomic assembly: Genome assembly GRCh37

23956222[1]

chromosome: human chromosome 18

genomic assembly: genome assembly GRCh38

cytogenetic location

18q11.2[2]

HomoloGene ID

18279[2]

Gene Atlas image

ortholog

Lama3[14]

found in taxon: koduhiir

Lama3[14]

found in taxon: rändrott

expressed in

right lung[15]

järjekorranumber: 1

skin of leg[15]

järjekorranumber: 2

periodontal fiber[15]

järjekorranumber: 3

skin of abdomen[15]

järjekorranumber: 4

mucosa of sigmoid colon[15]

järjekorranumber: 5

jejunal mucosa[15]

järjekorranumber: 6

decidua[15]

järjekorranumber: 7

sural nerve[15]

järjekorranumber: 8

upper lobe of left lung[15]

järjekorranumber: 9

minor salivary glands[15]

järjekorranumber: 10

täpne vaste

http://identifiers.org/ncbigene/3909[16]

Viited

  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 1,16 1,17 1,18 1,19 1,20 1,21 1,22 1,23 ensembl Release 106, ENSG00000053747
  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 2,12 2,13 2,14 2,15 2,16 2,17 NCBI Gene, 15. mai 2022, 3909
  3. ↑ UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ↑ Online Mendelian Inheritance in Man, 19. august 2019
  5. ↑ 5,0 5,1 5,2 5,3 NCBI Gene, 10. aprill 2022, 3909
  6. ↑ Ensembl Release 87, ENSG00000053747
  7. ↑ UniProt, 6. juuli 2017, Q16787
  8. ↑ K7EPP3, 20. märts 2016, UniProt, inglise keel
  9. ↑ Phenocarta, Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1., https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_332&ncbiId=3909, http://www.genome.gov/gwastudies/index.cfm?gene=LAMA3, 25. mai 2020
  10. ↑ Q16787, 13. august 2019, UniProt
  11. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000053747/MONDO_0009513, inferred from an Open Targets association score over 0.7
  12. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000053747/Orphanet_2407, inferred from an Open Targets association score over 0.7
  13. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000053747/Orphanet_79404, inferred from an Open Targets association score over 0.7
  14. ↑ 14,0 14,1 HomoloGene build68, 18279
  15. ↑ 15,00 15,01 15,02 15,03 15,04 15,05 15,06 15,07 15,08 15,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000053747
  16. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q18028444"