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gjen i llojit Homo sapiens

External resources

RefSeq RNA ID
NM_152778[1]
XM_005262898[1]
XM_011531832[1]
XM_017007989[1]
XM_024453982[1]
XM_024453983[1]
NM_001363520[1]
NM_001363521[1]
NM_001371590[1]
NM_001371591[1]
NM_001371592[1]
NM_001371593[1]
NM_001371594[1]
NM_001371595[1]
NM_001371596[1]
XM_047449992[2]
XM_047449993[2]
XM_047449994[2]
XM_047449995[2]
XM_047449997[2]
XM_047449998[2]
XM_047449999[2]
Ensembl transcript ID
ENST00000515130[3]
ENST00000296468[3]
ENST00000503928[3]
ENST00000504126[3]
ENST00000505284[3]
ENST00000508441[3]
ENST00000509826[3]
ENST00000513559[3]
ENST00000641695[3]
ENST00000641447[3]
ENST00000641843[3]
ENST00000641830[3]
ENST00000642042[3]
ENST00000642143[3]
ENST00000641356[3]
ENST00000641178[3]
ENST00000641464[3]
ENST00000641690[3]
ENST00000641509[3]
ENST00000641146[3]
ENST00000641928[3]
ENST00000641003[3]
ENST00000641882[3]
ENST00000641369[3]
ENST00000641332[3]
ENST00000641388[3]
ENST00000641658[3]
ENST00000641869[3]
ENST00000641590[3]
ENST00000641134[3]
ENST00000641949[3]
ENST00000641503[3]
ENST00000641742[3]
ENST00000641743[3]
ENST00000641870[3]
ENST00000641508[3]
ENST00000642012[3]
ENST00000641186[3]
ENST00000641686[3]
ENST00000641140[3]
ENST00000641025[3]
ENST00000641092[3]
ENST00000641133[3]
ENST00000641393[3]
ENST00000641482[3]
ENST00000641558[3]
ENST00000642121[3]
ENST00000641340[3]
ENST00000641776[3]
ENST00000641538[3]
ENST00000641264[3]
ENST00000641243[3]
ENST00000641434[3]
ENST00000641753[3]
ENST00000641748[3]
ENST00000642078[3]
ENST00000641147[3]
ENST00000641774[3]
ENST00000641413[3]
ENST00000641228[3]
ENST00000642034[3]
ENST00000641397[3]
Entrez Gene ID
256471[1]
UMLS CUI
C1970174[4]
OMIM ID
611124[5]
Ensembl gene ID
ENSG00000164073[3]
HGNC ID
28486[1]
simboli i gjenit HGNC
MFSD8[1]
Freebase ID
/m/06607yq

instancë e

gjen[3]

nënklasë e

gjen kodues i proteinave[6]

found in taxon

Homo sapiens[3]

encodes

Major facilitator superfamily domain containing 8[7]

genetic association

neuronal ceroid lipofuscinosis 7[8][9][10]
neuronal ceroid lipofuscinosis[11]

kromozom

human chromosome 4[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[3]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

128838960[3]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 4

127917799[3]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 4

genomic end

128887150[3]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 4

127966034[3]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 4

cytogenetic location

4q28.2[1]

HomoloGene ID

115814[1]

ortholog

Mfsd8[12][13]

found in taxon: Mus musculus

F27D9.2[12][13]

found in taxon: Caenorhabditis elegans

F52F10.2[12]

found in taxon: Caenorhabditis elegans

Cln7[12][13]

found in taxon: Drosophila melanogaster

C25E10.5[12]

found in taxon: Caenorhabditis elegans

W01B6.3[12]

found in taxon: Caenorhabditis elegans

W05E10.1[12]

found in taxon: Caenorhabditis elegans

F57A8.7[12]

found in taxon: Caenorhabditis elegans

T28C12.1[12]

found in taxon: Caenorhabditis elegans

T28C12.2[12]

found in taxon: Caenorhabditis elegans

F14D7.6[12]

found in taxon: Caenorhabditis elegans

W03C9.6[12]

found in taxon: Caenorhabditis elegans

C25E10.4[12]

found in taxon: Caenorhabditis elegans

F58G11.4[12]

found in taxon: Caenorhabditis elegans

mfsd8[12]

found in taxon: Danio rerio

ZK550.2[12]

found in taxon: Caenorhabditis elegans

mfsd-8[12]

found in taxon: Caenorhabditis elegans

srsx-34[12]

found in taxon: Caenorhabditis elegans

Mfsd8[13]

found in taxon: Miu i murrmë i gjirizeve

expressed in

Achilles tendon[14]

rendor serik: 1

body of pancreas[14]

rendor serik: 2

bone marrow cells[14]

rendor serik: 3

epithelium of colon[14]

rendor serik: 4

cerebellar hemisphere[14]

rendor serik: 5

sural nerve[14]

rendor serik: 6

pancreatic epithelial cell[14]

rendor serik: 7

Monociti[14]

rendor serik: 8

right hemisphere of cerebellum[14]

rendor serik: 9

Hormonet e pjesës së përparme të hipofizës[14]

rendor serik: 10

përputhje e saktë

http://identifiers.org/ncbigene/256471[15]

Reference

  1. ^ a b c d e f g h i j k l m n o p q r s t NCBI Gene, 15 maj 2022, 256471
  2. ^ a b c d e f g NCBI Gene, 10 prill 2022, 256471
  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 aq ar as at au av aw ax ay az ba bb bc bd be bf bg bh bi bj bk bl bm bn bo bp bq br bs ensembl Release 106, ENSG00000164073
  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. ^ Ensembl Release 87, ENSG00000164073
  7. ^ UniProt, 6 korrik 2017, Q8NHS3
  8. ^ Q8NHS3, 13 gusht 2019, UniProt
  9. ^ Open Targets Platform, 24 gusht 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000164073/MONDO_0012588
  10. ^ Open Targets Platform, 24 gusht 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000164073/Orphanet_228366
  11. ^ ClinGen, 25 shkurt 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f42cb66-5f28-4674-8f5a-76e15880bbfc-2020-12-15T170000.000Z
  12. ^ a b c d e f g h i j k l m n o p q r HomoloGene build68, 115814
  13. ^ a b c d Orthologous MAtrix, https://omabrowser.org/oma/vps/Q8NHS3/
  14. ^ a b c d e f g h i j Bgee, 7 qershor 2024, https://www.bgee.org/gene/ENSG00000164073
  15. ^ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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