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1896 EDA

1896

EDA

ectodysplasin A

protein-coding

Homo sapiens

基因描述

Type Description
Definition ectodysplasin A

研究结论

Date Results Publications
2021-02-13 13:28:00 Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor. 32736705
2020-08-01 13:28:00 study conducted to date in the Spanish population affected by ED. The EDA, EDAR, EDARADD and WNT10A genes constitute the molecular basis in 70.8% of patients with a 74.6% yield in Hypohidrotic ectodermal dysplasia and 44.4% in non-syndromic tooth agenesis. 31796081
2020-04-04 12:12:00 ectodysplasin A aggravates steatosis by striking balance between lipid deposition and elimination; it was a potential biomarker of nonalcoholic fatty liver disease 31526774
2020-03-10 10:42:00 The missense variant (c.1133C>T p.Thr378Met) has been mapped on the TNF-like domain of EDA and is predicted to change its functional nature. The binding of EDA variants to EDAR alters the recruitment of its adaptor protein, EDARADD, which is crucial in activating the NF-kappaB signaling pathway. 31652981
2019-12-21 10:50:00 A novel missense mutation p.S305R of EDA gene causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family 31376704

名称对应

Type IDs
Synonymous ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED
Gene
UniProtKB-ID: EDA_HUMAN, A0A0U5J797_HUMAN
UniprotKB: Q92838, A0A0U5J797
UniParc: UPI000002A8AF, UPI0000052244, UPI000002A8AB, UPI000002A8AD, UPI000002A8AA, UPI000002A8AE, UPI000002A8B0, UPI000189A760
EMBL: FO393403, U59227, BC144049, AL158141, BC126143, AF040628, AF060999, AF061193, AF061192, AF061190, AH006445, LN874327, U59228, AF061194, AL158069, BC144051, AF061191, AF061189
Ensembl: ENSG00000158813
KO: hsa:1896
Nucleutide sequences
EMBL-CDS: AAI44050.1, AAC77374.1, AAC77372.1, AAC77373.1, AAC36302.1, AAC36303.1, AAI26144.1, AAC77363.1, AAC77375.1, AAC77371.1, AAC50678.1, AAI44052.1, AAC50679.1, AAC77376.1, CTQ86092.1
Ensembl_TRS: ENST00000527388, ENST00000524573, ENST00000525810, ENST00000374552, ENST00000374553, ENST00000338901
Protein sequencees
Ensembl_PRO: ENSP00000340611, ENSP00000434861, ENSP00000434195, ENSP00000432585, ENSP00000363680, ENSP00000363681
RefSeq: NP_001005612.2, NP_001005610.2, NP_001390.1, NP_001005609.1, XP_006724693.1, NP_001005613.1, XP_016884825.1, XP_011529187.1, XP_016884826.1
Others
UniRef100: UniRef100_Q92838, UniRef100_A0A0U5J797
UniRef90: UniRef90_Q92838, UniRef90_A0A0U5J797
UniRef50: UniRef50_Q92838
UniGene: Hs.105407
CCDS: CCDS43966.1, CCDS14394.1, CCDS35318.2, CCDS35319.2, CCDS55436.1

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