A2ML1

Page contents not supported in other languages.

gjen i llojit Homo sapiens

instancë e

nënklasë e

gjen kodues i proteinave[6]

found in taxon

encodes

Alpha-2-macroglobulin like 1[7]
Alpha-2-macroglobulin-like protein 1[8]

genetic association

Noonan syndrome[9]
cardiofaciocutaneous syndrome[10]
Costello syndrome[11]

kromozom

human chromosome 12[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

8975068[1]

kromozom: human chromosome 12

genomic assembly: Genome assembly GRCh37

8822621[1]

kromozom: human chromosome 12

genomic assembly: genome assembly GRCh38

genomic end

8887001[1]

kromozom: human chromosome 12

genomic assembly: genome assembly GRCh38

9039597[1]

kromozom: human chromosome 12

genomic assembly: Genome assembly GRCh37

cytogenetic location

12p13.31[2]

HomoloGene ID

67167[2]

expressed in

gums[12]

series ordinal: 1

oral cavity[12]

series ordinal: 2

body of tongue[12]

series ordinal: 3

human penis[12]

series ordinal: 4

skin of abdomen[12]

series ordinal: 5

Vulva[12]

series ordinal: 6

amniotic fluid[12]

series ordinal: 7

Vagina[12]

series ordinal: 8

superior surface of tongue[12]

series ordinal: 9

oocyte[12]

series ordinal: 10

Reference

  1. ^ a b c d e f g h i j k l m n o p q r ensembl Release 106, ENSG00000166535
  2. ^ a b c d e f g h i j k l m NCBI Gene, 15 maj 2022, 144568
  3. ^ UMLS 2023, 15 qershor 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ^ NCBI Gene, 10 prill 2022, 144568
  5. ^ Online Mendelian Inheritance in Man, 19 gusht 2019
  6. ^ Ensembl Release 87, ENSG00000166535
  7. ^ UniProt, 6 korrik 2017, A8K2U0
  8. ^ H0YGG5, 21 mars 2016, UniProt, anglisht
  9. ^ ClinGen, 18 shtator 2019, https://search.clinicalgenome.org/kb/gene-validity/d910a9d8-516e-443d-acba-8d61f7574792--2018-06-07T14:23:53
  10. ^ ClinGen, 18 shtator 2019, https://search.clinicalgenome.org/kb/gene-validity/fc3c41d8-8497-489b-a350-c9e30016bc6a--2018-06-07T14:31:03
  11. ^ ClinGen, 1 tetor 2019, https://search.clinicalgenome.org/kb/gene-validity/d910a9d8-516e-443d-acba-8d61f7574792--2018-06-07T14:23:53
  12. ^ a b c d e f g h i j Bgee, 20 prill 2022, https://bgee.org/bgee15_0/gene/ENSG00000166535
  13. ^ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069