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PPP1CB

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gjen i llojit Homo sapiens

instancë e

nënklasë e

gjen kodues i proteinave[5]

found in taxon

encodes

Protein phosphatase 1 catalytic subunit beta[6]
Serine/threonine-protein phosphatase[7]

genetic association

Noonan syndrome-like disorder with loose anagen hair[8][9][10]

kromozom

human chromosome 2[2]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[2]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

28751640[2]

kromozom: human chromosome 2

genomic assembly: genome assembly GRCh38

28974506[2]

kromozom: human chromosome 2

genomic assembly: Genome assembly GRCh37

genomic end

28802940[2]

kromozom: human chromosome 2

genomic assembly: genome assembly GRCh38

29025806[2]

kromozom: human chromosome 2

genomic assembly: Genome assembly GRCh37

cytogenetic location

2p23.2[1]

HomoloGene ID

37659[1]

ortholog

Ppp1cb[11][12]

found in taxon: Mus musculus

Ppp1cb[11][12]
flw[11][12]

found in taxon: Drosophila melanogaster

gsp-1[11][12]

found in taxon: Caenorhabditis elegans

ppp1cb[11]

found in taxon: Danio rerio

expressed in

Achilles tendon[13]

series ordinal: 1

amniotic fluid[13]

series ordinal: 2

buccal mucosa cell[13]

series ordinal: 3

ventricular zone[13]

series ordinal: 4

Descending thoracic aorta[13]

series ordinal: 5

popliteal artery[13]

series ordinal: 6

tibial arteries[13]

series ordinal: 7

Aorta ascendens[13]

series ordinal: 8

caput epididymis[13]

series ordinal: 9

ganglionic eminence[13]

series ordinal: 10

Reference

  1. ^ a b c d e f g h NCBI Gene, 15 maj 2022, 5500
  2. ^ a b c d e f g h i j k l m n o p q r ensembl Release 106, ENSG00000213639
  3. ^ UMLS 2023, 15 qershor 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ^ Online Mendelian Inheritance in Man, 19 gusht 2019
  5. ^ Ensembl Release 87, ENSG00000213639
  6. ^ UniProt, 6 korrik 2017, P62140
  7. ^ E7ETD8, 21 mars 2016, UniProt, anglisht
  8. ^ ClinGen, 9 dhjetor 2020, https://search.clinicalgenome.org/kb/gene-validity/16bcb316-090f-420d-9c89-b7642d3dc725--2020-04-23T16:00:00
  9. ^ ClinGen, 25 janar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_16bcb316-090f-420d-9c89-b7642d3dc725-2020-04-23T160000.000Z
  10. ^ Open Targets Platform, 24 gusht 2023, https://platform.opentargets.org/evidence/ENSG00000213639/MONDO_0011899, inferred from an Open Targets association score over 0.7
  11. ^ a b c d e HomoloGene build68, 37659
  12. ^ a b c d Orthologous MAtrix, https://omabrowser.org/oma/vps/P62140/
  13. ^ a b c d e f g h i j Bgee, 7 qershor 2024, https://www.bgee.org/gene/ENSG00000213639
  14. ^ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069