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SEC63

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protein-coding gene in the species Homo sapiens

Välised allikad

RefSeq RNA ID
NM_007214[1]
NM_018529[1]
XM_047418130[2]
XM_047418131[2]
Microsoft Academic ID
2780581164
Ensembl transcript ID
ENST00000489455[3]
ENST00000369002[3]
ENST00000429168[3]
ENST00000446496[3]
ENST00000459782[3]
ENST00000460009[3]
ENST00000465210[3]
ENST00000466419[3]
ENST00000473746[3]
ENST00000484803[3]
Entrez Gene ID
11231[1]
UMLS CUI
C1427303[4]
Ensembl gene ID
ENSG00000025796[3]
OMIM ID
608648[5]
HGNC ID
21082[1]
HGNC gene symbol
SEC63[1]
Freebase
/m/03hl4kz

üksikjuht nähtusest

geen[3]

mille alamklass

protein-coding gene[6]

found in taxon

Homo sapiens[3]

encodes

SEC63 homolog, protein translocation regulator[7]

genetic association

polycystic liver disease 2[8]
polycystic liver disease[9]

chromosome

human chromosome 6[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

107867756[3]

chromosome: human chromosome 6

genomic assembly: genome assembly GRCh38

108188960[3]

chromosome: human chromosome 6

genomic assembly: Genome assembly GRCh37

genomic end

108279393[3]

chromosome: human chromosome 6

genomic assembly: Genome assembly GRCh37

107958208[3]

chromosome: human chromosome 6

genomic assembly: genome assembly GRCh38

cytogenetic location

6q21[1]

HomoloGene ID

5220[1]

Gene Atlas image

ortholog

Sec63[10][11]

found in taxon: koduhiir

Sec63[10]

found in taxon: rändrott

Sec63[10][11]

found in taxon: Harilik äädikakärbes

sec63[10][11]

found in taxon: Danio rerio

dnj-29[10]

found in taxon: varbuss

expressed in

epithelium of colon[12]

järjekorranumber: 1

body of pancreas[12]

järjekorranumber: 2

parotid gland[12]

järjekorranumber: 3

stromal cell of endometrium[12]

järjekorranumber: 4

bone marrow cells[12]

järjekorranumber: 5

ganglionic eminence[12]

järjekorranumber: 6

ventricular zone[12]

järjekorranumber: 7

left ovary[12]

järjekorranumber: 8

olfactory zone of nasal mucosa[12]

järjekorranumber: 9

right ovary[12]

järjekorranumber: 10

täpne vaste

http://identifiers.org/ncbigene/11231[13]

Viited

  1. ↑ 1,0 1,1 1,2 1,3 1,4 1,5 1,6 NCBI Gene, 15. mai 2022, 11231
  2. ↑ 2,0 2,1 NCBI Gene, 10. aprill 2022, 11231
  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 3,14 3,15 3,16 3,17 3,18 ensembl Release 106, ENSG00000025796
  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, ENSG00000025796
  7. ↑ UniProt, 6. juuli 2017, Q9UGP8
  8. ↑ ClinGen, 28. veebruar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_76312e16-e3b1-400a-8a22-4c0cca5e6918-2020-09-23T040000.000Z
  9. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000025796/Orphanet_2924, inferred from an Open Targets association score over 0.7
  10. ↑ 10,0 10,1 10,2 10,3 10,4 HomoloGene build68, 5220
  11. ↑ 11,0 11,1 11,2 Orthologous MAtrix, https://omabrowser.org/oma/vps/Q9UGP8/
  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/ENSG00000025796
  13. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q18036417"