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144568 A2ML1

144568

A2ML1

alpha-2-macroglobulin like 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition alpha-2-macroglobulin like 1

研究结论

Date Results Publications
2020-04-04 11:32:00 Study identified 16 novel A2ML1 variants in otitis media patients, two of which are pathogenic further providing evidence to support a role for A2ML1 in middle ear mucosal pathology. Sequencing of patients salivary RNA samples demonstrated lower A2ML1 expression according to the carriage of A2ML1 variants. 31009165
2018-12-22 11:21:00 The functional assessment supported the pathogenicity of the RAF1 and RIT1 variants of unknown significance (VUSs), while the significance of two VUSs in A2ML1 remained unclear. 29402968
2017-12-30 10:41:00 Brain gene expression of ZNF385A, PSD2, and A2ML1 and DNA methylation dysregulations are implicated in the alteration of brain tissue properties associated with late-life cognitive decline above and beyond the influence of common neuropathologic conditions. 29084334
2017-07-22 13:09:00 The indigenous Filipino population has a ~50% prevalence of otitis media. A2ML1 genotype is the primary risk factor for otitis media and main determinant of disease progression, although age, the middle ear microbiome, and social clusters might modulate the effect of the A2ML1 genotype. 27484237
2017-02-18 12:11:00 A2ML1-related otitis media susceptibility may be mediated by changes in the middle ear microbiome. 27799062

名称对应

Type IDs
Synonymous CPAMD9, OMS, p170
Gene
UniProtKB-ID: A2ML1_HUMAN, B3KVV6_HUMAN
UniprotKB: A8K2U0, B3KVV6
UniParc: UPI00004A23E7, UPI000204AA86, UPI000022904E
EMBL: CH471116, BC093840, AK096448, AK123601, AC006513, AK057908, AL832139, AK123591, AK302555, AK123592, BC112131, AC006581, AK290355
Ensembl: ENSG00000166535
KO: hsa:144568
Nucleutide sequences
EMBL-CDS: EAW88606.1, BAH13740.1, BAC85654.1, AAH93840.2, BAB71612.1, BAF83044.1, EAW88603.1, BAC04793.1, AAI12132.1, BAC85653.1, BAG53918.1
Ensembl_TRS: ENST00000539547, ENST00000299698
Protein sequencees
Ensembl_PRO: ENSP00000438292, ENSP00000299698
RefSeq: XP_011518868.1, XP_016874358.1, NP_653271.3, XP_016874357.1, XP_011518869.1, NP_001269353.2, XP_016874359.1
Others
UniRef100: UniRef100_A8K2U0, UniRef100_B3KVV6
UniRef90: UniRef90_A8K2U0
UniRef50: UniRef50_A8K2U0
UniGene: Hs.620532
CCDS: CCDS8596.2

全选

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