Mine sisu juurde

DNM2

Lehekülje sisu ei toetata teistes keeltes.

protein-coding gene in the species Homo sapiens

üksikjuht nähtusest

mille alamklass

protein-coding gene[5]

found in taxon

Homo sapiens[1]

encodes

Dynamin 2[6]
Dynamin-2[7]

genetic association

coronary artery disease[8]

määramismeetod: Ülegenoomne assotsiatsiooniuuring, TAS

fetal akinesia-cerebral and retinal hemorrhage syndrome[9][10]
Charcot-Marie-Tooth disease dominant intermediate B[11]

chromosome

human chromosome 19[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

10828755[1]

chromosome: human chromosome 19

genomic assembly: Genome assembly GRCh37

10718055[1]

chromosome: human chromosome 19

genomic assembly: genome assembly GRCh38

genomic end

10833488[1]

chromosome: human chromosome 19

genomic assembly: genome assembly GRCh38

10944164[1]

chromosome: human chromosome 19

genomic assembly: Genome assembly GRCh37

cytogenetic location

19p13.2[2]

HomoloGene ID

90883[2]

ortholog

Dnm2[12][13]

found in taxon: koduhiir

Dnm2[12][13]

found in taxon: rändrott

dnm2b[12]

found in taxon: Danio rerio

dyn-1[13]

found in taxon: varbuss

shi[13]

found in taxon: Harilik äädikakärbes

expressed in

granulocyte[14]

järjekorranumber: 1

mucosa of transverse colon[14]

järjekorranumber: 2

skin of leg[14]

järjekorranumber: 3

right lung[14]

järjekorranumber: 4

upper lobe of left lung[14]

järjekorranumber: 5

rectum[14]

järjekorranumber: 6

skin of abdomen[14]

järjekorranumber: 7

body of stomach[14]

järjekorranumber: 8

apex of heart[14]

järjekorranumber: 9

gastric mucosa[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 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 1,24 1,25 1,26 1,27 1,28 1,29 1,30 1,31 1,32 1,33 1,34 ensembl Release 106, ENSG00000079805
  2. 2,00 2,01 2,02 2,03 2,04 2,05 2,06 2,07 2,08 2,09 NCBI Gene, 15. mai 2022, 1785
  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. Ensembl Release 87, ENSG00000079805
  6. UniProt, 6. juuli 2017, P50570
  7. K7EPK9, 30. juuni 2016, UniProt, inglise keel
  8. Phenocarta, Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project, https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_3393&ncbiId=1785, http://www.genome.gov/gwastudies/index.cfm?gene=DNM2, 25. mai 2020
  9. P50570, 13. august 2019, UniProt
  10. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000079805/MONDO_0014149, inferred from an Open Targets association score over 0.7
  11. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000079805/Orphanet_100044, inferred from an Open Targets association score over 0.7
  12. 12,0 12,1 12,2 HomoloGene build68, 90883
  13. 13,0 13,1 13,2 13,3 Orthologous MAtrix, https://omabrowser.org/oma/vps/P50570/
  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/ENSG00000079805
  15. Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069