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gjen i llojit Homo sapiens

External resources

Microsoft Academic ID
2780744430
Ensembl transcript ID
ENST00000491274[1]
ENST00000375499[1]
ENST00000463045[1]
ENST00000466613[1]
ENST00000475049[1]
ENST00000475506[1]
ENST00000485092[1]
ENST00000485515[1]
Entrez Gene ID
6390[2]
RefSeq RNA ID
NM_003000[2]
UMLS CUI
C1419907[3]
CIViC gene ID
5177
OpenAlex ID
C2780744430[4]
OMIM ID
185470[5]
Ensembl gene ID
ENSG00000117118[1]
HGNC ID
10681[2]
simboli i gjenit HGNC
SDHB[2]
Freebase ID
/m/0cfdy7

instancë e

gjen[1]

nënklasë e

gjen kodues i proteinave[6]

found in taxon

Homo sapiens[1]

encodes

Succinate dehydrogenase complex iron sulfur subunit B[7]
Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial[8]

genetic association

phaeochromocytoma[9]
Carney-Stratakis syndrome[9][10]
hereditary pheochromocytoma-paraganglioma[11][12][13]
adrenal gland pheochromocytoma[14]
paraganglioma[15]
gastrointestinal stromal tumor[16]

kromozom

human chromosome 1[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

17018722[1]

kromozom: human chromosome 1

genomic assembly: genome assembly GRCh38

17345217[1]

kromozom: human chromosome 1

genomic assembly: Genome assembly GRCh37

genomic end

17380665[1]

kromozom: human chromosome 1

genomic assembly: Genome assembly GRCh37

17054032[1]

kromozom: human chromosome 1

genomic assembly: genome assembly GRCh38

cytogenetic location

1p36.13[2]

HomoloGene ID

2255[2]

ortholog

Sdhb[17][18]

found in taxon: Mus musculus

SDH2[17]

found in taxon: Saccharomyces cerevisiae S288c

Sdhb[17][18]

found in taxon: Miu i murrmë i gjirizeve

SdhB[17][18]

found in taxon: Drosophila melanogaster

sdhb-1[17][18]

found in taxon: Caenorhabditis elegans

sdhb[17][18]

found in taxon: Danio rerio

expressed in

left ventricle[19]

series ordinal: 1

apex of heart[19]

series ordinal: 2

gastrocnemius muscle[19]

series ordinal: 3

muscle of thigh[19]

series ordinal: 4

mucosa of transverse colon[19]

series ordinal: 5

right ventricle[19]

series ordinal: 6

right auricle[19]

series ordinal: 7

right lobe of liver[19]

series ordinal: 8

vastus lateralis muscle[19]

series ordinal: 9

biceps brachii[19]

series ordinal: 10

përputhje e saktë

http://identifiers.org/ncbigene/6390[20]

Reference

  1. ^ a b c d e f g h i j k l m n o p q ensembl Release 106, ENSG00000117118
  2. ^ a b c d e f NCBI Gene, 15 maj 2022, 6390
  3. ^ UMLS 2023, 15 qershor 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ^ OpenAlex, 26 janar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
  5. ^ Online Mendelian Inheritance in Man, 19 gusht 2019
  6. ^ Ensembl Release 87, ENSG00000117118
  7. ^ UniProt, 6 korrik 2017, P21912
  8. ^ A0A087WXX8, 20 mars 2016, UniProt, anglisht
  9. ^ a b P21912, 13 gusht 2019, UniProt
  10. ^ Open Targets Platform, 24 gusht 2023, https://platform.opentargets.org/evidence/ENSG00000117118/MONDO_0011740, inferred from an Open Targets association score over 0.7
  11. ^ ClinGen, 6 nëntor 2019, https://search.clinicalgenome.org/kb/gene-validity/8356
  12. ^ ClinGen, 27 dhjetor 2021, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b5b8852d-1641-4c45-8aa2-57c2dfbac4ea-2021-06-17T012105.373Z
  13. ^ Open Targets Platform, 24 gusht 2023, https://platform.opentargets.org/evidence/ENSG00000117118/MONDO_0017366, inferred from an Open Targets association score over 0.7
  14. ^ Open Targets Platform, 24 gusht 2023, https://platform.opentargets.org/evidence/ENSG00000117118/EFO_0000239, inferred from an Open Targets association score over 0.7
  15. ^ Open Targets Platform, 24 gusht 2023, https://platform.opentargets.org/evidence/ENSG00000117118/EFO_1000453, inferred from an Open Targets association score over 0.7
  16. ^ Open Targets Platform, 24 gusht 2023, https://platform.opentargets.org/evidence/ENSG00000117118/MONDO_0011719, inferred from an Open Targets association score over 0.7
  17. ^ a b c d e f HomoloGene build68, 2255
  18. ^ a b c d e Orthologous MAtrix, https://omabrowser.org/oma/vps/P21912/
  19. ^ a b c d e f g h i j Bgee, 7 qershor 2024, https://www.bgee.org/gene/ENSG00000117118
  20. ^ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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