CLN8

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protein-coding gene in the species Homo sapiens

External resources

RefSeq RNA ID
NM_001034061[೧]
NM_018941[೧]
XM_005266021[೧]
XM_005266022[೧]
XM_005266023[೧]
XM_011534745[೧]
XM_011534746[೧]
XM_011534747[೧]
XM_047421512[೨]
XM_047421513[೨]
Microsoft Academic ID
2779181360
Ensembl transcript ID
ENST00000631624[೩]
ENST00000519254[೩]
ENST00000635751[೩]
ENST00000637083[೩]
ENST00000632266[೩]
ENST00000524258[೩]
ENST00000637156[೩]
ENST00000518780[೩]
ENST00000619400[೩]
ENST00000517514[೩]
ENST00000637594[೩]
ENST00000520991[೩]
ENST00000631736[೩]
ENST00000632971[೩]
ENST00000636605[೩]
ENST00000631515[೩]
ENST00000636934[೩]
ENST00000631978[೩]
ENST00000523237[೩]
ENST00000635970[೩]
ENST00000331222[೩]
Entrez Gene ID
2055[೧]
Freebase ಐಡಿ
/m/03h0401
UMLS CUI
C1413500[೪]
HGNC gene symbol
CLN8[೧]
OMIM ID
607837[೫]
Ensembl gene ID
ENSG00000182372[೩]
ENSG00000278220[೩]
HGNC ID
2079[೧]

ಉದಾಹರಣೆಗೆ

ವಂಶವಾಹಿ[೩]

ಉಪವರ್ಗ

protein-coding gene[೬]

found in taxon

Homo sapiens[೩]

encodes

CLN8 transmembrane ER and ERGIC protein[೭]
Protein CLN8[೮]

genetic association

neuronal ceroid lipofuscinosis 8[೯][೧೦][೧೧]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant[೯][೧೨][೧೩]
neuronal ceroid lipofuscinosis[೧೪][೧೫]

chromosome

human chromosome 8[೩]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[೩]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

1755778[೩]

chromosome: human chromosome 8

genomic assembly: genome assembly GRCh38

1703944[೩]

chromosome: human chromosome 8

genomic assembly: Genome assembly GRCh37

genomic end

1801711[೩]

chromosome: human chromosome 8

genomic assembly: genome assembly GRCh38

1734738[೩]

chromosome: human chromosome 8

genomic assembly: Genome assembly GRCh37

cytogenetic location

8p23.3[೧]

HomoloGene ID

10340[೧]

ortholog

Cln8[೧೬]

found in taxon: house mouse

Cln8[೧೬]

found in taxon: brown rat

cln8[೧೬]

found in taxon: Danio rerio

expressed in

corpus callosum[೧೭]

series ordinal: 1

stromal cell of endometrium[೧೭]

series ordinal: 2

monocyte[೧೭]

series ordinal: 3

ಜರಾಯು (ಪ್ಲಸೆಂಟ್)[೧೭]

series ordinal: 4

substantia nigra[೧೭]

series ordinal: 5

thymus[೧೭]

series ordinal: 6

ಯಕೃತ್ತು[೧೭]

series ordinal: 7

skin of abdomen[೧೭]

series ordinal: 8

islet of Langerhans[೧೭]

series ordinal: 9

ಎಲುಬು ಮಜ್ಜೆ[೧೭]

series ordinal: 10

exact match

http://identifiers.org/ncbigene/2055[೧೮]

Reference

  1. ↑ ೧.೦೦ ೧.೦೧ ೧.೦೨ ೧.೦೩ ೧.೦೪ ೧.೦೫ ೧.೦೬ ೧.೦೭ ೧.೦೮ ೧.೦೯ ೧.೧೦ ೧.೧೧ ೧.೧೨ NCBI Gene, ೧೫ ಮೇ 2022, 2055
  2. ↑ ೨.೦ ೨.೧ NCBI Gene, ೧೦ ಏಪ್ರಿಲ್ 2022, 2055
  3. ↑ ೩.೦೦ ೩.೦೧ ೩.೦೨ ೩.೦೩ ೩.೦೪ ೩.೦೫ ೩.೦೬ ೩.೦೭ ೩.೦೮ ೩.೦೯ ೩.೧೦ ೩.೧೧ ೩.೧೨ ೩.೧೩ ೩.೧೪ ೩.೧೫ ೩.೧೬ ೩.೧೭ ೩.೧೮ ೩.೧೯ ೩.೨೦ ೩.೨೧ ೩.೨೨ ೩.೨೩ ೩.೨೪ ೩.೨೫ ೩.೨೬ ೩.೨೭ ೩.೨೮ ೩.೨೯ ೩.೩೦ ensembl Release 106, ENSG00000182372
  4. ↑ UMLS 2023, ೧೫ ಜೂನ್ 2023, inferred by common HGNC mappings on source and on Wikidata
  5. ↑ Online Mendelian Inheritance in Man, ೧೯ ಆಗಸ್ಟ್ 2019
  6. ↑ NCBI homo sapiens annotation release 107, NCBI Gene, ೩ ಅಕ್ಟೋಬರ್ 2016, 2055
  7. ↑ UniProt, ೧೬ ಮಾರ್ಚ್ 2017, Q9UBY8
  8. ↑ A0A0J9YWD2, ೨೧ ಮಾರ್ಚ್ 2016, UniProt, ಆಂಗ್ಲ
  9. ↑ ೯.೦ ೯.೧ Q9UBY8, ೧೩ ಆಗಸ್ಟ್ 2019, UniProt
  10. ↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0010830, inferred from an Open Targets association score over 0.7
  11. ↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_228354, inferred from an Open Targets association score over 0.7
  12. ↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0012391, inferred from an Open Targets association score over 0.7
  13. ↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_1947, inferred from an Open Targets association score over 0.7
  14. ↑ ClinGen, ೧೪ ಸೆಪ್ಟೆಂಬರ್ 2020, https://search.clinicalgenome.org/kb/gene-validity/68775ed0-576e-4ee7-90f2-d16329ecd7c1--2020-09-07T22:01:16
  15. ↑ ClinGen, ೨೫ ಜನವರಿ 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z
  16. ↑ ೧೬.೦ ೧೬.೧ ೧೬.೨ HomoloGene build68, 10340
  17. ↑ ೧೭.೦೦ ೧೭.೦೧ ೧೭.೦೨ ೧೭.೦೩ ೧೭.೦೪ ೧೭.೦೫ ೧೭.೦೬ ೧೭.೦೭ ೧೭.೦೮ ೧೭.೦೯ Bgee, ೨೮ ಏಪ್ರಿಲ್ 2022, https://bgee.org/bgee15_0/gene/ENSG00000182372
  18. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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