RBCC Red Blood Cell Collection

TGM2_HUMAN

Source: hRBCD ; ID: IPI00294578
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: TGM2
Protein names and data: TGM2_HUMAN , Protein-glutamine gamma-glutamyltransferase 2; 2.3.2.13 , Tissue transglutaminase; Transglutaminase C; TG(C); TGC; TGase C; Transglutaminase H; TGase H; Transglutaminase-2; TGase-2 Lenght: 687 a.a.
Mass: 77329 Da
fasta formatted sequence
Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
Catalytic activity: Protein glutamine + alkylamine = protein N(5)- alkylglutamine + NH(3).

Genetic variants

76 - 76 R -> H (in dbSNP:rs41274720). VAR_052553 41274720
214 - 214 R -> H (in dbSNP:rs45530133). VAR_055357 45530133
324 - 324 Q -> R (in dbSNP:rs45567334). VAR_055358 45567334
330 - 330 M -> R (in patients with early-onset diabetes type 2; pathological significance unknown). VAR_037998
331 - 331 I -> N (in patients with early-onset diabetes type 2; pathological significance unknown). VAR_037999
436 - 436 R -> W (in dbSNP:rs45629036). VAR_055359 45629036
536 - 536 P -> S (in dbSNP:rs45556333). VAR_052554 45556333
660 - 660 G -> V (in a colorectal cancer sample; somatic mutation). VAR_036554

Database cross-references

UniProt: P21980
Ensembl: ENST00000361475
MIM: 190196
neXtProt: NX_P21980
Antibodypedia: P21980 (may not find the protein thus also not any antibody)
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