FGFR2

protein-coding gene in the species Homo sapiens

üksikjuht nähtusest

mille alamklass

protein-coding gene[6]

found in taxon

Homo sapiens[1]

encodes

Fibroblast growth factor receptor 2[7]

genetic association

Crouzon syndrone[9][10][11][12]
Jackson–Weiss syndrome[9][13]
Beare-Stevenson cutis gyrata syndrome[9][14][15][16]
McGillivray syndrome[9][17]
LADD syndrome[9][18][19]
Antley-Bixler syndrome[9][20]
craniosynostosis[21]

chromosome

human chromosome 10[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

123237848[1]

chromosome: human chromosome 10

genomic assembly: Genome assembly GRCh37

121478332[1]

chromosome: human chromosome 10

genomic assembly: genome assembly GRCh38

genomic end

121598458[1]

chromosome: human chromosome 10

genomic assembly: genome assembly GRCh38

123357972[1]

chromosome: human chromosome 10

genomic assembly: Genome assembly GRCh37

cytogenetic location

10q26.13[2]

HomoloGene ID

22566[2]

Gene Atlas image

ortholog

Fgfr2[22][23]

found in taxon: koduhiir

Fgfr2[22]

found in taxon: rändrott

fgfr2[22]

found in taxon: Danio rerio

btl[22]

found in taxon: Harilik äädikakärbes

htl[23]

found in taxon: Harilik äädikakärbes

expressed in

C1 segment[24]

järjekorranumber: 1

corpus callosum[24]

järjekorranumber: 2

inferior olivary nucleus[24]

järjekorranumber: 3

ventricular zone[24]

järjekorranumber: 4

Parotiidnääre[24]

järjekorranumber: 5

inferior ganglion of vagus nerve[24]

järjekorranumber: 6

external globus pallidus[24]

järjekorranumber: 7

subthalamic nucleus[24]

järjekorranumber: 8

Mustaine[24]

järjekorranumber: 9

skin of thigh[24]

järjekorranumber: 10

Commonsi kategooria

Fibroblast growth factor receptor 2

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 1,35 1,36 1,37 1,38 1,39 1,40 1,41 1,42 1,43 1,44 1,45 1,46 1,47 1,48 1,49 ensembl Release 106, ENSG00000066468
  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 2,18 2,19 2,20 2,21 2,22 2,23 2,24 2,25 2,26 2,27 2,28 2,29 2,30 2,31 2,32 2,33 2,34 2,35 2,36 2,37 NCBI Gene, 15. mai 2022, 2263
  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. OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
  6. Ensembl Release 87, ENSG00000066468
  7. UniProt, 6. juuli 2017, P21802
  8. Phenocarta, A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age., https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_1612&ncbiId=2263, http://www.genome.gov/gwastudies/index.cfm?gene=FGFR2, 25. mai 2020
  9. 9,0 9,1 9,2 9,3 9,4 9,5 P21802, 13. august 2019, UniProt
  10. ClinGen, 27. detsember 2021, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2cfa70a-750f-4357-98b9-f5c30ca4dc26-2021-12-23T165345.170Z
  11. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0007405, inferred from an Open Targets association score over 0.7
  12. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/Orphanet_207, inferred from an Open Targets association score over 0.7
  13. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0007400, inferred from an Open Targets association score over 0.7
  14. ClinGen, 4. aprill 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7805e806-44ee-4339-a078-d62c204bff00-2022-03-31T163711.748Z
  15. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0007412, inferred from an Open Targets association score over 0.7
  16. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/Orphanet_1555, inferred from an Open Targets association score over 0.7
  17. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0012307, inferred from an Open Targets association score over 0.7
  18. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0007872, inferred from an Open Targets association score over 0.7
  19. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/Orphanet_2363, inferred from an Open Targets association score over 0.7
  20. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0008803, inferred from an Open Targets association score over 0.7
  21. Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0015469, inferred from an Open Targets association score over 0.7
  22. 22,0 22,1 22,2 22,3 HomoloGene build68, 22566
  23. 23,0 23,1 Orthologous MAtrix, https://omabrowser.org/oma/vps/P21802/
  24. 24,00 24,01 24,02 24,03 24,04 24,05 24,06 24,07 24,08 24,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000066468
  25. Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069