GALNT2 c.1372G>C ;(p.D458H)

Variant ID: 1-230401045-G-C

NM_004481.3(GALNT2):c.1372G>C;(p.D458H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Atomic and Specificity Details of Mucin 1 O-Glycosylation Process by Multiple Polypeptide GalNAc-Transferase Isoforms Unveiled by NMR and Molecular Modeling.

Jacs Au
Coelho, Helena H; Rivas, Matilde de Las ML; Grosso, Ana S AS; Diniz, Ana A; Soares, Cátia O CO; Francisco, Rodrigo A RA; Dias, Jorge S JS; Compañon, Ismael I; Sun, Lingbo L; Narimatsu, Yoshiki Y; Vakhrushev, Sergey Y SY; Clausen, Henrik H; Cabrita, Eurico J EJ; Jiménez-Barbero, Jesús J; Corzana, Francisco F; Hurtado-Guerrero, Ramon R; Marcelo, Filipa F
Publication Date: 2022-03-28

Variant appearance in text: GalNAc-T2: D458H
PubMed Link: 35373202
Variant Present in the following documents:
  • Main text
View BVdb publication page



IgA1 hinge-region clustered glycan fidelity is established early during semi-ordered glycosylation by GalNAc-T2.

Glycobiology
Stewart, Tyler J TJ; Takahashi, Kazuo K; Whitaker, Robert H RH; Raska, Milan M; Placzek, William J WJ; Novak, Jan J; Renfrow, Matthew B MB
Publication Date: 2019-07-01

Variant appearance in text: GalNAc-T2: D458H
PubMed Link: 30759204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Initiation of GalNAc-type O-glycosylation in the endoplasmic reticulum promotes cancer cell invasiveness.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gill, David J DJ; Tham, Keit Min KM; Chia, Joanne J; Wang, Shyi Chyi SC; Steentoft, Catharina C; Clausen, Henrik H; Bard-Chapeau, Emilie A EA; Bard, Frederic A FA
Publication Date: 2013-08-20

Variant appearance in text: GalNAc-T2: D458H
PubMed Link: 23912186
Variant Present in the following documents:
  • Main text
View BVdb publication page



The lectin domain of the polypeptide GalNAc transferase family of glycosyltransferases (ppGalNAc Ts) acts as a switch directing glycopeptide substrate glycosylation in an N- or C-terminal direction, further controlling mucin type O-glycosylation.

The Journal Of Biological Chemistry
Gerken, Thomas A TA; Revoredo, Leslie L; Thome, Joseph J C JJ; Tabak, Lawrence A LA; Vester-Christensen, Malene Bech MB; Clausen, Henrik H; Gahlay, Gagandeep K GK; Jarvis, Donald L DL; Johnson, Roy W RW; Moniz, Heather A HA; Moremen, Kelley K
Publication Date: 2013-07-05

Variant appearance in text: GALNT2: D458H
PubMed Link: 23689369
Variant Present in the following documents:
  • Main text
View BVdb publication page