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MFN2

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gjen i llojit Homo sapiens

instancë e

nënklasë e

gjen kodues i proteinave[7]

found in taxon

encodes

Mitofusin 2[8]

genetic association

Charcot-Marie-Tooth disease type 6[9]
Charcot-Marie-Tooth disease type 2A2[10]

kromozom

human chromosome 1[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

11980181[3]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 1

12040238[3]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 1

genomic end

12073571[3]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 1

12015211[3]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 1

cytogenetic location

1p36.22[1]

HomoloGene ID

8915[1]

Gene Atlas image

ortholog

Mfn2[11][12]

found in taxon: Mus musculus

LOC100911485[11]
Mfn2[11]
mfn2[11][12]

found in taxon: Danio rerio

Marf[11][12]

found in taxon: Drosophila melanogaster

fzo-1[11][12]

found in taxon: Caenorhabditis elegans

expressed in

apex of heart[13]

rendor serik: 1

left ventricle[13]

rendor serik: 2

muscle of thigh[13]

rendor serik: 3

right auricle[13]

rendor serik: 4

gastrocnemius muscle[13]

rendor serik: 5

myocardium of left ventricle[13]

rendor serik: 6

cardiac muscle tissue of right atrium[13]

rendor serik: 7

optic nerve[13]

rendor serik: 8

Skeletal muscle tissue of rectus abdominis[13]

rendor serik: 9

Diafragma[13]

rendor serik: 10

Reference

  1. ^ a b c d e f g h i j NCBI Gene, 15 maj 2022, 9927
  2. ^ a b c NCBI Gene, 10 prill 2022, 9927
  3. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap ensembl Release 106, ENSG00000116688
  4. ^ UMLS 2023, 15 qershor 2023, inferred by common HGNC mappings on source and on Wikidata
  5. ^ Online Mendelian Inheritance in Man, 19 gusht 2019
  6. ^ OpenAlex, 26 janar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
  7. ^ Ensembl Release 87, ENSG00000116688
  8. ^ UniProt, 6 korrik 2017, O95140
  9. ^ O95140, 13 gusht 2019, UniProt
  10. ^ Open Targets Platform, 24 gusht 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000116688/Orphanet_99947
  11. ^ a b c d e f HomoloGene build68, 8915
  12. ^ a b c d Orthologous MAtrix, https://omabrowser.org/oma/vps/O95140/
  13. ^ a b c d e f g h i j Bgee, 7 qershor 2024, https://www.bgee.org/gene/ENSG00000116688
  14. ^ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069