HBG2_HUMAN
Source:
hRBCD
; ID:
IPI00464992
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:
HBG2
Protein names and data:
HBG2_HUMAN
, Hemoglobin subunit gamma-2
, Gamma-2-globin; Hb F Ggamma; Hemoglobin gamma-2 chain; Hemoglobin gamma-G chain
Lenght: 147 a.a.
Mass: 16126 Da
fasta formatted sequence
Function:
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
Disease:
( OMIM:
142250
613977
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Red blood cells.
Genetic variants
2 - 2
G -> C (in Malaysia). VAR_003123
6 - 6
E -> G (in Meinohama). VAR_003126
8 - 8
D -> N (in Auckland). VAR_003129
9 - 9
K -> E (in Albaicin). VAR_020643
9 - 9
K -> Q (in Albaicin). VAR_020644
13 - 13
T -> R (in Heather). VAR_020645
16 - 16
W -> R (in Catalonia). VAR_003131
17 - 17
G -> R (in Melbourne). VAR_003132
18 - 18
K -> N (in Clamart). VAR_020646
20 - 20
N -> K (in Ouled Rabah). VAR_020647
21 - 21
V -> A (in Bron). VAR_030496
22 - 22
E -> K (in Saskatoon). VAR_003133
22 - 22
E -> Q (in Fuchu). VAR_003134
23 - 23
D -> G (in Urumqi). VAR_020648
23 - 23
D -> V (in Granada). VAR_003136
26 - 26
G -> E (in Cosenza). VAR_003137
27 - 27
E -> K (in Oakland). VAR_003139
35 - 35
V -> I (in Tokyo). VAR_003140
39 - 39
T -> P (in Bonheiden; causes severe hereditary hemolytic anemia). VAR_030497
41 - 41
R -> G (in Veleta). VAR_003144
41 - 41
R -> K (in Austell). VAR_020649
42 - 42
F -> S (in TNCY; hemoglobin Cincinnati). VAR_003146
45 - 45
S -> R (in Lodz). VAR_003148
56 - 56
M -> R (in Kingston). VAR_003150
60 - 60
K -> E (in Emirates). VAR_003151
60 - 60
K -> Q (in Sacromonte). VAR_003152
64 - 64
H -> L (in TNCY; hemoglobin M- Circleville). VAR_025336
64 - 64
H -> Y (in TNCY; hemoglobin Osaka; the presence of a tyrosine causes the formation of a covalent link with heme iron, so that the iron is stabilized in the ferric form; when this occurs methemoglobin is formed, oxygen can no longer bind to heme and cyanosis occurs). VAR_003154
66 - 66
K -> N (in Clarke). VAR_003155
67 - 67
K -> Q (in Brooklyn). VAR_003157
67 - 67
K -> R (in Shanghai). VAR_003156
68 - 68
V -> M (in TNCY; hemoglobin Toms River; the side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit via steric hindrance and the rate at which it does so; the mutant methionine is converted to aspartic acid post- translationally). VAR_065950
73 - 73
G -> R (in Minoo). VAR_020650
76 - 76
I -> T (in LesVos/Waynesboro/Charlotte; dbSNP:rs1061234). VAR_020651
1061234
76 - 76
I -> V (in Coigneres). VAR_030498
78 - 78
H -> R (in Kennestone). VAR_003162
81 - 81
D -> N (in Marietta). VAR_020652
93 - 93
H -> Y (in TNCY; hemoglobin Fort Ripley; dbSNP:rs35103459). VAR_003166
35103459
95 - 95
D -> N (in Columbus-Ga). VAR_003167
102 - 102
E -> K (in La Grange). VAR_003169
105 - 105
K -> N (in Macedonia-II). VAR_003170
118 - 118
H -> R (in Malta-1). VAR_003171
119 - 119
F -> L (in Calabria). VAR_015740
121 - 121
K -> Q (in Caltech; dbSNP:rs34703519). VAR_003172
34703519
122 - 122
E -> K (in Carlton). VAR_020653
126 - 126
E -> A (in Port-Royal). VAR_003174
131 - 131
W -> G (in Poole; unstable). VAR_003176
147 - 147
H -> Y (in Onoda; O(2) affinity up; dbSNP:rs34807671). VAR_003179
34807671
Database cross-references
UniProt:
P69892
Ensembl:
ENST00000336906
Ensembl:
ENST00000380259
MIM:
142250
MIM:
613977
neXtProt:
NX_P69892
Antibodypedia:
P69892
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.