TSR2
entrez
90121
canonical
uniprot
Q969E8
canonical
ensembl
ENSG00000158526
resolver
ensp
ENSP00000364293
resolver
ensp
ENSP00000578107
resolver
enst
ENST00000375151
resolver
genesymbol
TSR2
resolver
hgnc
HGNC:25455
resolver
uniprot_entry
TSR2_HUMAN
resolver
amino_acid_sequence
MAGAAEDARALFRAGVCAALEAWPALQIAVENGFGGVHSQEKAKWLGGAVEDYFMRNADLELDEVEDFLGELLTNEFDTVVEDGSLPQVSQQLQTMFHHFQRGDGAALREMASCITQRKCKVTATALKTARETDEDEDDVDSVEEMEVTATNDGAATDGVCPQPEPSDPDAQTIKEEDIVEDGWTIVRRKK
uniprot
proteins
disease_involvement
DISEASE: Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14) [MIM:300946]: An X-linked recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:24942156}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in 20S pre-rRNA processing. {ECO:0000305}.
uniprot
proteins
mass_dalton
20894
uniprot
proteins
protein_family
TSR2 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
24942156
uniprot
proteins
sequence_length
191
uniprot
proteins