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KCNMA1

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protein-coding gene in the species Homo sapiens

Välised allikad

Freebase
/m/03gvlrg
Microsoft Academic ID
2780700719
Ensembl transcript ID
ENST00000626620[1]
ENST00000286627[1]
ENST00000286628[1]
ENST00000354353[1]
ENST00000372403[1]
ENST00000372408[1]
ENST00000372421[1]
ENST00000372437[1]
ENST00000372440[1]
ENST00000372443[1]
ENST00000404771[1]
ENST00000404857[1]
ENST00000406533[1]
ENST00000428546[1]
ENST00000434208[1]
ENST00000450795[1]
ENST00000457953[1]
ENST00000468471[1]
ENST00000475352[1]
ENST00000480683[1]
ENST00000481070[1]
ENST00000484343[1]
ENST00000484507[1]
ENST00000604624[1]
ENST00000618048[1]
ENST00000637862[1]
ENST00000638203[1]
ENST00000638223[1]
ENST00000638249[1]
ENST00000638252[1]
ENST00000638283[1]
ENST00000638306[1]
ENST00000638351[1]
ENST00000638361[1]
ENST00000638370[1]
ENST00000638506[1]
ENST00000638512[1]
ENST00000638514[1]
ENST00000638531[1]
ENST00000638575[1]
ENST00000638606[1]
ENST00000638632[1]
ENST00000638751[1]
ENST00000638754[1]
ENST00000638759[1]
ENST00000638848[1]
ENST00000638895[1]
ENST00000638991[1]
ENST00000638999[1]
ENST00000639069[1]
ENST00000639090[1]
ENST00000639120[1]
ENST00000639204[1]
ENST00000639205[1]
ENST00000639282[1]
ENST00000639321[1]
ENST00000639344[1]
ENST00000639370[1]
ENST00000639406[1]
ENST00000639483[1]
ENST00000639486[1]
ENST00000639489[1]
ENST00000639498[1]
ENST00000639544[1]
ENST00000639591[1]
ENST00000639601[1]
ENST00000639657[1]
ENST00000639691[1]
ENST00000639716[1]
ENST00000639730[1]
ENST00000639823[1]
ENST00000639851[1]
ENST00000639913[1]
ENST00000639968[1]
ENST00000639995[1]
ENST00000640029[1]
ENST00000640093[1]
ENST00000640141[1]
ENST00000640182[1]
ENST00000640311[1]
ENST00000640353[1]
ENST00000640386[1]
ENST00000640523[1]
ENST00000640570[1]
ENST00000640605[1]
ENST00000640626[1]
ENST00000640632[1]
ENST00000640773[1]
ENST00000640807[1]
ENST00000640824[1]
ENST00000640834[1]
ENST00000640934[1]
ENST00000640969[1]
ENST00000674918[1]
Entrez Gene ID
3778[2]
Ensembl gene ID
ENSG00000156113[1]
UMLS CUI
C1416602[3]
HGNC gene symbol
KCNMA1[2]
OMIM ID
600150[4]
HGNC ID
6284[2]
RefSeq RNA ID
XM_011539785[2]
NM_001014797[2]
NM_001161352[2]
NM_001161353[2]
NM_001271518[2]
NM_001271519[2]
NM_001271520[2]
NM_001271521[2]
NM_001271522[2]
NM_002247[2]
XM_005269776[2]
XM_005269778[2]
XM_005269781[2]
XM_005269787[2]
XM_005269789[2]
XM_005269792[2]
XM_005269796[2]
XM_006717826[2]
XM_011539773[2]
XM_011539774[2]
XM_011539775[2]
XM_011539777[2]
XM_011539778[2]
XM_011539780[2]
XM_011539781[2]
XM_011539782[2]
XM_011539783[2]
XM_011539784[2]
NM_001322829[2]
NM_001322830[2]
NM_001322832[2]
NM_001322835[2]
NM_001322836[2]
NM_001322837[2]
NM_001322838[2]
NM_001322839[2]
XM_017016207[2]
XM_017016208[2]
XM_017016209[2]
XM_017016210[2]
XM_017016211[2]
XM_017016213[2]
XM_017016214[2]
XM_017016217[2]
XM_017016219[2]
XM_017016222[2]
XM_017016223[2]
XM_024447984[2]
XM_024447985[2]
XM_024447986[2]
XM_024447987[2]
XM_024447988[2]
XM_024447989[2]
XM_024447990[2]
XM_047425195[5]
XM_047425196[5]
XM_047425197[5]
XM_047425199[5]
XM_047425200[5]
XM_047425201[5]
XR_007061964[5]

üksikjuht nähtusest

geen[1]

mille alamklass

protein-coding gene[6]

found in taxon

Homo sapiens[1]

encodes

Potassium calcium-activated channel subfamily M alpha 1[7]
KCNMA1 protein[8]
Calcium-activated potassium channel subunit alpha-1[9]

genetic association

generalized epilepsy-paroxysmal dyskinesia syndrome[10][11][12]

chromosome

human chromosome 10[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

reverse strand[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

76869601[1]

chromosome: human chromosome 10

genomic assembly: genome assembly GRCh38

78629359[1]

chromosome: human chromosome 10

genomic assembly: Genome assembly GRCh37

genomic end

79398353[1]

chromosome: human chromosome 10

genomic assembly: Genome assembly GRCh37

77638369[1]

chromosome: human chromosome 10

genomic assembly: genome assembly GRCh38

cytogenetic location

10q22.3[2]

HomoloGene ID

1693[2]

Gene Atlas image

ortholog

Kcnma1[13][14]

found in taxon: koduhiir

Kcnma1[13][14]

found in taxon: rändrott

slo[13][14]

found in taxon: Harilik äädikakärbes

slo-1[13][14]

found in taxon: varbuss

kcnma1a[13]

found in taxon: Danio rerio

expressed in

parotid gland[15]

järjekorranumber: 1

saphenous vein[15]

järjekorranumber: 2

sääreluu[15]

järjekorranumber: 3

Achilleuse kõõlus[15]

järjekorranumber: 4

myometrium[15]

järjekorranumber: 5

urethra[15]

järjekorranumber: 6

gastric mucosa[15]

järjekorranumber: 7

tail of epididymis[15]

järjekorranumber: 8

seminal vesicula[15]

järjekorranumber: 9

Brodmann area 23[15]

järjekorranumber: 10

täpne vaste

http://identifiers.org/ncbigene/3778[16]

Viited

  1. ↑ 1,000 1,001 1,002 1,003 1,004 1,005 1,006 1,007 1,008 1,009 1,010 1,011 1,012 1,013 1,014 1,015 1,016 1,017 1,018 1,019 1,020 1,021 1,022 1,023 1,024 1,025 1,026 1,027 1,028 1,029 1,030 1,031 1,032 1,033 1,034 1,035 1,036 1,037 1,038 1,039 1,040 1,041 1,042 1,043 1,044 1,045 1,046 1,047 1,048 1,049 1,050 1,051 1,052 1,053 1,054 1,055 1,056 1,057 1,058 1,059 1,060 1,061 1,062 1,063 1,064 1,065 1,066 1,067 1,068 1,069 1,070 1,071 1,072 1,073 1,074 1,075 1,076 1,077 1,078 1,079 1,080 1,081 1,082 1,083 1,084 1,085 1,086 1,087 1,088 1,089 1,090 1,091 1,092 1,093 1,094 1,095 1,096 1,097 1,098 1,099 1,100 1,101 1,102 ensembl Release 106, ENSG00000156113
  2. ↑ 2,00 2,01 2,02 2,03 2,04 2,05 2,06 2,07 2,08 2,09 2,10 2,11 2,12 2,13 2,14 2,15 2,16 2,17 2,18 2,19 2,20 2,21 2,22 2,23 2,24 2,25 2,26 2,27 2,28 2,29 2,30 2,31 2,32 2,33 2,34 2,35 2,36 2,37 2,38 2,39 2,40 2,41 2,42 2,43 2,44 2,45 2,46 2,47 2,48 2,49 2,50 2,51 2,52 2,53 2,54 2,55 2,56 2,57 2,58 NCBI Gene, 15. mai 2022, 3778
  3. ↑ UMLS 2023, 15. juuni 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ↑ Online Mendelian Inheritance in Man, 19. august 2019
  5. ↑ 5,0 5,1 5,2 5,3 5,4 5,5 5,6 NCBI Gene, 10. aprill 2022, 3778
  6. ↑ Ensembl Release 87, ENSG00000156113
  7. ↑ UniProt, 6. juuli 2017, Q12791
  8. ↑ B7ZMF5, 21. märts 2016, UniProt, inglise keel
  9. ↑ H0Y382, 21. märts 2016, UniProt, inglise keel
  10. ↑ ClinGen, 14. märts 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_4bd10bb7-67d0-4c30-a944-9a46fd2f361a-2022-03-08T104405.484Z
  11. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000156113/MONDO_0012276, inferred from an Open Targets association score over 0.7
  12. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000156113/Orphanet_79137, inferred from an Open Targets association score over 0.7
  13. ↑ 13,0 13,1 13,2 13,3 13,4 HomoloGene build68, 1693
  14. ↑ 14,0 14,1 14,2 14,3 Orthologous MAtrix, https://omabrowser.org/oma/vps/Q12791/
  15. ↑ 15,00 15,01 15,02 15,03 15,04 15,05 15,06 15,07 15,08 15,09 Bgee, 7. juuni 2024, https://www.bgee.org/gene/ENSG00000156113
  16. ↑ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q18028214"