HBG2
entrez
3048
canonical
uniprot
P69892
canonical
ensembl
ENSG00000196565
resolver
ensp
ENSP00000338082
resolver
enst
ENST00000336906
resolver
genesymbol
HBG2
resolver
hgnc
HGNC:4832
resolver
uniprot
A8MZE0
resolver
uniprot
P02096
resolver
uniprot
P62027
resolver
uniprot
Q14491
resolver
uniprot
Q68NH9
resolver
uniprot
Q96FH6
resolver
uniprot
Q96FH7
resolver
uniprot_entry
HBG2_HUMAN
resolver
uniprot_sec
A8MZE0
resolver
uniprot_sec
P02096
resolver
uniprot_sec
P62027
resolver
uniprot_sec
Q14491
resolver
uniprot_sec
Q68NH9
resolver
uniprot_sec
Q96FH6
resolver
uniprot_sec
Q96FH7
resolver
amino_acid_sequence
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
uniprot
proteins
disease_involvement
DISEASE: Cyanosis transient neonatal (TNCY) [MIM:613977]: A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. {ECO:0000269|PubMed:19065339, ECO:0000269|PubMed:21561349, ECO:0000269|PubMed:24502349, ECO:0000269|PubMed:2470017, ECO:0000269|PubMed:2483933, ECO:0000269|PubMed:7741137}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Gamma chains make up the fetal hemoglobin F, in combination with alpha chains. {ECO:0000269|PubMed:19065339, ECO:0000269|PubMed:21561349, ECO:0000269|PubMed:24502349}.
uniprot
proteins
mass_dalton
16126
uniprot
proteins
post_translational_modification
PTM: Acetylation of Gly-2 converts Hb F to the minor Hb F1. {ECO:0000269|PubMed:5554303}.
uniprot
proteins
protein_family
Globin family
uniprot
proteins
pubmed
10722114
uniprot
proteins
pubmed
10722115
uniprot
proteins
pubmed
1127124
uniprot
proteins
pubmed
11791877
uniprot
proteins
pubmed
14087393
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15645283
uniprot
proteins
pubmed
16370494
uniprot
proteins
pubmed
1703138
uniprot
proteins
pubmed
1703139
uniprot
proteins
pubmed
1706691
uniprot
proteins
pubmed
1714434
uniprot
proteins
pubmed
1726095
uniprot
proteins
pubmed
19065339
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21561349
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2420748
uniprot
proteins
pubmed
2435680
uniprot
proteins
pubmed
2442122
uniprot
proteins
pubmed
2442123
uniprot
proteins
pubmed
24502349
uniprot
proteins
pubmed
2459082
uniprot
proteins
pubmed
2459083
uniprot
proteins
pubmed
2470017
uniprot
proteins
pubmed
2483933
uniprot
proteins
pubmed
2579547
uniprot
proteins
pubmed
2581851
uniprot
proteins
pubmed
2581919
uniprot
proteins
pubmed
3120456
uniprot
proteins
pubmed
4429671
uniprot
proteins
pubmed
4837284
uniprot
proteins
pubmed
4846278
uniprot
proteins
pubmed
5554303
uniprot
proteins
pubmed
5792729
uniprot
proteins
pubmed
6172403
uniprot
proteins
pubmed
6186522
uniprot
proteins
pubmed
6186635
uniprot
proteins
pubmed
6186636
uniprot
proteins
pubmed
6192110
uniprot
proteins
pubmed
6206897
uniprot
proteins
pubmed
6814491
uniprot
proteins
pubmed
7250702
uniprot
proteins
pubmed
7438203
uniprot
proteins
pubmed
7558873
uniprot
proteins
pubmed
7713741
uniprot
proteins
pubmed
7741137
uniprot
proteins
pubmed
8144355
uniprot
proteins
pubmed
836882
uniprot
proteins
pubmed
8566966
uniprot
proteins
pubmed
8718700
uniprot
proteins
pubmed
8718701
uniprot
proteins
pubmed
881729
uniprot
proteins
sequence_length
147
uniprot
proteins