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JPH2

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protein-coding gene in the species Homo sapiens

Välised allikad

RefSeq RNA ID
XM_006723833[1]
NM_020433[1]
NM_175913[1]
Microsoft Academic ID
2775832764
Ensembl transcript ID
ENST00000372980[2]
ENST00000342272[2]
Entrez Gene ID
57158[1]
UMLS CUI
C1422483[3]
Ensembl gene ID
ENSG00000149596[2]
OMIM ID
605267[4]
HGNC ID
14202[1]
HGNC gene symbol
JPH2[1]
Freebase
/m/03hmfpb

üksikjuht nähtusest

geen[2]

mille alamklass

protein-coding gene[5]

found in taxon

Homo sapiens[2]

encodes

Junctophilin 2[6]

genetic association

hypertrophic cardiomyopathy 17[7][8]
hypertrophic cardiomyopathy[9]

chromosome

20. kromosoom[2]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[2]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

42740335[2]

chromosome: 20. kromosoom

genomic assembly: Genome assembly GRCh37

44106590[2]

chromosome: 20. kromosoom

genomic assembly: genome assembly GRCh38

genomic end

42816218[2]

chromosome: 20. kromosoom

genomic assembly: Genome assembly GRCh37

44187188[2]

chromosome: 20. kromosoom

genomic assembly: genome assembly GRCh38

cytogenetic location

20q13.12[1]

HomoloGene ID

10714[1]

Gene Atlas image

ortholog

Jph2[10][11]

found in taxon: koduhiir

Jph2[10][11]

found in taxon: rändrott

jph2[10]

found in taxon: Danio rerio

expressed in

myocardium of left ventricle[12]

järjekorranumber: 1

Skeletal muscle tissue of rectus abdominis[12]

järjekorranumber: 2

tibialis anterior muscle[12]

järjekorranumber: 3

cardiac muscle tissue of right atrium[12]

järjekorranumber: 4

muscle of thigh[12]

järjekorranumber: 5

Skeletal muscle tissue of biceps brachii[12]

järjekorranumber: 6

apex of heart[12]

järjekorranumber: 7

Reie nelipealihas[12]

järjekorranumber: 8

vastus lateralis muscle[12]

järjekorranumber: 9

popliteal artery[12]

järjekorranumber: 10

täpne vaste

http://identifiers.org/ncbigene/57158[13]

Viited

  1. ↑ 1,0 1,1 1,2 1,3 1,4 1,5 1,6 1,7 NCBI Gene, 15. mai 2022, 57158
  2. ↑ 2,00 2,01 2,02 2,03 2,04 2,05 2,06 2,07 2,08 2,09 2,10 ensembl Release 106, ENSG00000149596
  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, ENSG00000149596
  6. ↑ UniProt, 6. juuli 2017, Q9BR39
  7. ↑ Q9BR39, 13. august 2019, UniProt
  8. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000149596/MONDO_0013474, inferred from an Open Targets association score over 0.7
  9. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000149596/EFO_0000538, inferred from an Open Targets association score over 0.7
  10. ↑ 10,0 10,1 10,2 HomoloGene build68, 10714
  11. ↑ 11,0 11,1 Orthologous MAtrix, https://omabrowser.org/oma/vps/Q9BR39/
  12. ↑ 12,00 12,01 12,02 12,03 12,04 12,05 12,06 12,07 12,08 12,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000149596
  13. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q18042938"