LAMB3

protein-coding gene in the species Homo sapiens

üksikjuht nähtusest

mille alamklass

protein-coding gene[6]

found in taxon

Homo sapiens[3]

encodes

Laminin subunit beta 3[7]

genetic association

amelogenesis imperfecta type 1A[8]
hypoplastic amelogenesis imperfecta[9]
Mitis junctional epidermolysis bullosa[10]
junctional epidermolysis bullosa Herlitz type[11]

chromosome

1. kromosoom[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

209614870[3]

chromosome: 1. kromosoom

genomic assembly: genome assembly GRCh38

209788215[3]

chromosome: 1. kromosoom

genomic assembly: Genome assembly GRCh37

genomic end

209825811[3]

chromosome: 1. kromosoom

genomic assembly: Genome assembly GRCh37

209652425[3]

chromosome: 1. kromosoom

genomic assembly: genome assembly GRCh38

cytogenetic location

1q32.2[1]

HomoloGene ID

191[1]

Gene Atlas image

ortholog

Lamb3[12][13]

found in taxon: koduhiir

Lamb3[12][13]

found in taxon: rändrott

expressed in

cartilage tissue[14]

järjekorranumber: 1

periodontal fiber[14]

järjekorranumber: 2

gingival epithelium[14]

järjekorranumber: 3

olfactory zone of nasal mucosa[14]

järjekorranumber: 4

jejunal mucosa[14]

järjekorranumber: 5

mucosa of transverse colon[14]

järjekorranumber: 6

skin of leg[14]

järjekorranumber: 7

mucosa of ileum[14]

järjekorranumber: 8

skin of abdomen[14]

järjekorranumber: 9

mucosa of esophagus[14]

järjekorranumber: 10

Viited

  1. 1,00 1,01 1,02 1,03 1,04 1,05 1,06 1,07 1,08 1,09 NCBI Gene, 15. mai 2022, 3914
  2. NCBI Gene, 10. aprill 2022, 3914
  3. 3,00 3,01 3,02 3,03 3,04 3,05 3,06 3,07 3,08 3,09 3,10 3,11 3,12 3,13 ensembl Release 106, ENSG00000196878
  4. UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata
  5. Online Mendelian Inheritance in Man, 19. august 2019
  6. Ensembl Release 87, ENSG00000196878
  7. UniProt, 6. juuli 2017, Q13751
  8. Q13751, 13. august 2019, UniProt
  9. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000196878/Orphanet_100031, inferred from an Open Targets association score over 0.7
  10. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000196878/Orphanet_79402, inferred from an Open Targets association score over 0.7
  11. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000196878/Orphanet_79404, inferred from an Open Targets association score over 0.7
  12. 12,0 12,1 HomoloGene build68, 191
  13. 13,0 13,1 Orthologous MAtrix, https://omabrowser.org/oma/vps/Q13751/
  14. 14,00 14,01 14,02 14,03 14,04 14,05 14,06 14,07 14,08 14,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000196878
  15. Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069