Neidio i'r cynnwys

CLN8

Ni chefnogir cynnwys y dudalen mewn ieithoedd eraill.
Creu erthygl

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protein-coding gene in the species Homo sapiens

Adnoddau allanol

RefSeq RNA ID
NM_001034061[1]
NM_018941[1]
XM_005266021[1]
XM_005266022[1]
XM_005266023[1]
XM_011534745[1]
XM_011534746[1]
XM_011534747[1]
XM_047421512[2]
XM_047421513[2]
dynodwr Microsoft Academic
2779181360
Ensembl transcript ID
ENST00000631624[3]
ENST00000519254[3]
ENST00000635751[3]
ENST00000637083[3]
ENST00000632266[3]
ENST00000524258[3]
ENST00000637156[3]
ENST00000518780[3]
ENST00000619400[3]
ENST00000517514[3]
ENST00000637594[3]
ENST00000520991[3]
ENST00000631736[3]
ENST00000632971[3]
ENST00000636605[3]
ENST00000631515[3]
ENST00000636934[3]
ENST00000631978[3]
ENST00000523237[3]
ENST00000635970[3]
ENST00000331222[3]
Entrez Gene ID
2055[1]
dynodwr Freebase
/m/03h0401
UMLS CUI
C1413500[4]
HGNC gene symbol
CLN8[1]
dynodwr OMIM
607837[5]
Ensembl gene ID
ENSG00000182372[3]
ENSG00000278220[3]
dynodwr HGNC
2079[1]

enghraifft o'r canlynol

genyn[3]

isddosbarth o'r canlynol

genyn codio-protein[6]

found in taxon

Homo sapiens[3]

amgodau

CLN8 transmembrane ER and ERGIC protein[7]
Protein CLN8[8]

genetic association

neuronal ceroid lipofuscinosis 8[9][10][11]
neuronal ceroid lipofuscinosis 8 northern epilepsy variant[9][12][13]
neuronal ceroid lipofuscinosis[14][15]

cromosom

cromosom dynol 8[3]

cynulliad genynnol: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

edefyn blaen[3]

cynulliad genynnol: genome assembly GRCh38, Genome assembly GRCh37

genomic start

1755778[3]

cromosom: cromosom dynol 8

cynulliad genynnol: genome assembly GRCh38

1703944[3]

cromosom: cromosom dynol 8

cynulliad genynnol: Genome assembly GRCh37

genomic end

1801711[3]

cromosom: cromosom dynol 8

cynulliad genynnol: genome assembly GRCh38

1734738[3]

cromosom: cromosom dynol 8

cynulliad genynnol: Genome assembly GRCh37

cytogenetic location

8p23.3[1]

HomoloGene ID

10340[1]

ortholog

Cln8[16][17]

found in taxon: Llygoden y tŷ

Cln8[16][17]

found in taxon: brown rat

cln8[16][17]

found in taxon: Danio rerio

expressed in

corpus callosum[18]

trefnolyn: 1

C1 segment[18]

trefnolyn: 2

stromal cell of endometrium[18]

trefnolyn: 3

monocyt[18]

trefnolyn: 4

Brych (anatomeg)[18]

trefnolyn: 5

substantia nigra[18]

trefnolyn: 6

Tonsil[18]

trefnolyn: 7

skin of leg[18]

trefnolyn: 8

afu[18]

trefnolyn: 9

skin of abdomen[18]

trefnolyn: 10

cysyniad o'r un fath

http://identifiers.org/ncbigene/2055[19]

Cyfeiriadau

  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 NCBI Gene, 15 Mai 2022, 2055
  2. ↑ 2.0 2.1 NCBI Gene, 10 Ebrill 2022, 2055
  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 3.19 3.20 3.21 3.22 3.23 3.24 3.25 3.26 3.27 3.28 3.29 3.30 ensembl Release 106, ENSG00000182372
  4. ↑ UMLS 2023, 15 Mehefin 2023, inferred by common HGNC mappings on source and on Wikidata
  5. ↑ Online Mendelian Inheritance in Man, 19 Awst 2019
  6. ↑ NCBI homo sapiens annotation release 107, NCBI Gene, 3 Hydref 2016, 2055
  7. ↑ UniProt, 16 Mawrth 2017, Q9UBY8
  8. ↑ A0A0J9YWD2, 21 Mawrth 2016, UniProt, Saesneg
  9. ↑ 9.0 9.1 Q9UBY8, 13 Awst 2019, UniProt
  10. ↑ Open Targets Platform, 24 Awst 2023, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0010830, inferred from an Open Targets association score over 0.7
  11. ↑ Open Targets Platform, 24 Awst 2023, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_228354, inferred from an Open Targets association score over 0.7
  12. ↑ Open Targets Platform, 24 Awst 2023, https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0012391, inferred from an Open Targets association score over 0.7
  13. ↑ Open Targets Platform, 24 Awst 2023, https://platform.opentargets.org/evidence/ENSG00000182372/Orphanet_1947, inferred from an Open Targets association score over 0.7
  14. ↑ ClinGen, 14 Medi 2020, https://search.clinicalgenome.org/kb/gene-validity/68775ed0-576e-4ee7-90f2-d16329ecd7c1--2020-09-07T22:01:16
  15. ↑ ClinGen, 25 Ionawr 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_68775ed0-576e-4ee7-90f2-d16329ecd7c1-2020-09-07T220116.243Z
  16. ↑ 16.0 16.1 16.2 HomoloGene build68, 10340
  17. ↑ 17.0 17.1 17.2 Orthologous MAtrix, https://omabrowser.org/oma/vps/Q9UBY8/
  18. ↑ 18.00 18.01 18.02 18.03 18.04 18.05 18.06 18.07 18.08 18.09 Bgee, 7 Mehefin 2024, https://www.bgee.org/gene/ENSG00000182372
  19. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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