HBB_HUMAN
Source: PM19886704PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: HBB
Protein names and data: HBB_HUMAN , Hemoglobin subunit beta , Beta-globin; Hemoglobin beta chain; LVV-hemorphin-7; Spinorphin Lenght: 147 a.a.
Mass: 15998 Da
fasta formatted sequence
Function: Involved in oxygen transport from the lung to the various peripheral tissues. LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure. Spinorphin: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.
Disease: ( OMIM: 140700 141900 603902 603903 613985 ) Heinz body anemias (HEIBAN) [MIM:140700]: Form of non- spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. Note=The disease may be caused by mutations affecting the gene represented in this entry. Beta-thalassemia (B-THAL) [MIM:613985]: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta- thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic. Note=The disease is caused by mutations affecting the gene represented in this entry. Sickle cell anemia (SKCA) [MIM:603903]: Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues. Note=The disease is caused by mutations affecting the gene represented in this entry. Beta-thalassemia, dominant, inclusion body type (B- THALIB) [MIM:603902]: An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Red blood cells.
Genetic variants
2 - 2 V -> A (in Raleigh; O(2) affinity down; dbSNP:rs33949930). VAR_002856 339499303 - 3 H -> L (in Graz; dbSNP:rs35906307). VAR_002857 35906307
3 - 3 H -> Q (in Okayama; O(2) affinity up; dbSNP:rs713040). VAR_002858 713040
3 - 3 H -> R (in Deer Lodge; O(2) affinity up; dbSNP:rs33983205). VAR_002859 33983205
3 - 3 H -> Y (in Fukuoka; dbSNP:rs35906307). VAR_002860 35906307
6 - 6 P -> R (in Warwickshire; dbSNP:rs34769005). VAR_002861 34769005
7 - 7 E -> A (in G-Makassar; dbSNP:rs334). VAR_002862 334
7 - 7 E -> K (in C; dbSNP:rs33930165). VAR_002864 33930165
7 - 7 E -> Q (in Machida; dbSNP:rs33930165). VAR_002865 33930165
7 - 7 E -> V (in S; sickle cell anemia; dbSNP:rs334). VAR_002863 334
8 - 8 E -> G (in G-San Jose; mildly unstable; dbSNP:rs34948328). VAR_002866 34948328
8 - 8 E -> K (in G-Siriraj; dbSNP:rs34948328). VAR_002867 34948328
9 - 9 K -> E (in N-Timone; dbSNP:rs33932981). VAR_002868 33932981
9 - 9 K -> Q (in J-Luhe; dbSNP:rs33926764). VAR_002869 33926764
9 - 9 K -> T (in Rio Grande). VAR_002870
10 - 10 S -> C (in Porto Alegre; O(2) affinity up; dbSNP:rs33918131). VAR_002871 33918131
11 - 11 A -> D (in Ankara; dbSNP:rs33947457). VAR_002872 33947457
11 - 11 A -> V (in Iraq-Halabja). VAR_025393
12 - 12 V -> D (in Windsor; O(2) affinity up; unstable; dbSNP:rs33974228). VAR_002873 33974228
12 - 12 V -> I (in Hamilton). VAR_002874
14 - 14 A -> D (in J-Lens; dbSNP:rs35203747). VAR_002875 35203747
15 - 15 L -> P (in Saki; unstable). VAR_002876
15 - 15 L -> R (in Soegn; unstable; dbSNP:rs33935445). VAR_002877 33935445
16 - 16 W -> G (in Randwick; unstable; dbSNP:rs33946157). VAR_002878 33946157
16 - 16 W -> R (in Belfast; O(2) affinity up; unstable; dbSNP:rs33946157). VAR_002879 33946157
17 - 17 G -> D (in J-Baltimore/J-Trinidad/J- Ireland/J-Georgia/N-New Haven). VAR_002880
17 - 17 G -> R (in D-Bushman). VAR_002881
18 - 18 K -> E (in Nagasaki; dbSNP:rs33986703). VAR_002882 33986703
18 - 18 K -> N (in J-Amiens; dbSNP:rs36006214). VAR_002883 36006214
18 - 18 K -> Q (in Nikosia; dbSNP:rs33986703). VAR_002884 33986703
19 - 19 V -> M (in Baden; slightly unstable; dbSNP:rs35802118). VAR_002885 35802118
20 - 20 N -> D (in Alamo; dbSNP:rs34866629). VAR_002886 34866629
20 - 20 N -> K (in D-Ouleh RABAH). VAR_002887
20 - 20 N -> S (in Malay; dbSNP:rs33972047). VAR_002888 33972047
21 - 21 V -> M (in Olympia; O(2) affinity up; dbSNP:rs35890959). VAR_002889 35890959
22 - 22 D -> G (in Connecticut; O(2) affinity down; dbSNP:rs33977536). VAR_002890 33977536
22 - 22 D -> H (in Karlskoga; dbSNP:rs33950093). VAR_002892 33950093
22 - 22 D -> N (in Cocody). VAR_002891
22 - 22 D -> Y (in Yusa). VAR_002893
23 - 23 E -> A (in G-Coushatta/G-Saskatoon/G- Taegu/Hsin Chu; dbSNP:rs33936254). VAR_002894 33936254
23 - 23 E -> G (in G-Taipei). VAR_002895
23 - 23 E -> K (in E-Saskatoon; unstable). VAR_002896
23 - 23 E -> Q (in D-Iran). VAR_002897
23 - 23 E -> V (in D-Granada). VAR_002898
24 - 24 V -> D (in Strasbourg; O(2) affinity up). VAR_002899
24 - 24 V -> F (in Palmerston North; O(2) affinity up; unstable). VAR_002900
24 - 24 V -> G (in Miyashiro; O(2) affinity up; unstable). VAR_002901
24 - 24 Missing (in Freiburg; dbSNP:rs34160180). VAR_069169 34160180
25 - 25 G -> D (in Moscva; O(2) affinity down; unstable). VAR_002902
25 - 25 G -> R (in Riverdale-Bronx; O(2) affinity up; unstable). VAR_002903
25 - 25 G -> V (in Savannah; unstable). VAR_002904
26 - 26 G -> D (in J-Auckland; unstable; O(2) affinity down). VAR_002905
26 - 26 G -> R (in G-Taiwan Ami). VAR_002906
27 - 27 E -> K (in E). VAR_002907
27 - 27 E -> V (in Henri Mondor; slightly unstable). VAR_002908
28 - 28 A -> D (in Volga/Drenthe; unstable). VAR_002909
28 - 28 A -> S (in Knossos). VAR_002910
28 - 28 A -> V (in Grange-blanche; O(2) affinity up). VAR_002911
29 - 29 L -> P (in Genova/Hyogo; unstable). VAR_002912
29 - 29 L -> Q (in St Louis). VAR_035236
30 - 30 G -> D (in Lufkin; unstable). VAR_002913
31 - 31 R -> S (in Tacoma; unstable; dbSNP:rs1135071). VAR_002914 1135071
32 - 32 L -> P (in Yokohama; unstable). VAR_002915
33 - 33 L -> R (in Castilla; unstable). VAR_002916
33 - 33 L -> V (in Muscat; slightly unstable). VAR_002917
35 - 35 V -> D (in Santander; unstable). VAR_025394
35 - 35 V -> F (in Pitie-Salpetriere; O(2) affinity up). VAR_002918
35 - 35 V -> L (in Nantes; increased oxygen affinity). VAR_025395
36 - 36 Y -> F (in Philly; O(2) affinity up; unstable). VAR_002919
37 - 37 P -> R (in Sunnybrook). VAR_002920
37 - 37 P -> S (in North Chicago; O(2) affinity up). VAR_002921
37 - 37 P -> T (in Linkoping/Finlandia; O(2) affinity up). VAR_002922
38 - 38 W -> G (in Howick). VAR_002923
38 - 38 W -> R (in Rothschild; O(2) affinity down). VAR_002925
38 - 38 W -> S (in Hirose; O(2) affinity up). VAR_002924
39 - 39 T -> N (in Hinwil; O(2) affinity up). VAR_002926
40 - 40 Q -> E (in Vaasa; unstable; dbSNP:rs76728603). VAR_002927 76728603
40 - 40 Q -> K (in Alabama; dbSNP:rs76728603). VAR_002928 76728603
40 - 40 Q -> R (in Tianshui). VAR_002929
42 - 42 F -> Y (in Mequon). VAR_002930
42 - 42 Missing (in Bruxelles). VAR_035237
43 - 43 F -> L (in Louisville; unstable). VAR_002931
43 - 43 F -> S (in Hammersmith). VAR_035239
43 - 43 Missing (in Bruxelles). VAR_035238
44 - 44 E -> Q (in Hoshida/Chaya). VAR_002932
45 - 45 S -> C (in Mississippi). VAR_002933
46 - 46 F -> S (in Cheverly; unstable). VAR_002934
47 - 47 G -> E (in K-Ibadan). VAR_002935
48 - 48 D -> A (in Avicenna). VAR_002936
48 - 48 D -> G (in Gavello). VAR_002937
48 - 48 D -> Y (in Maputo). VAR_002938
49 - 49 L -> P (in Bab-Saadoum; slightly unstable). VAR_002939
50 - 50 S -> F (in Las Palmas; slightly unstable). VAR_002940
51 - 51 T -> K (in Edmonton). VAR_002941
52 - 52 P -> R (in Willamette; O(2) affinity up; unstable). VAR_002942
53 - 53 D -> A (in Ocho Rios). VAR_002943
53 - 53 D -> H (in Summer Hill). VAR_002944
55 - 55 V -> D (in Jacksonville; O(2) affinity up; unstable). VAR_002945
56 - 56 M -> K (in Matera; unstable). VAR_002946
57 - 57 G -> R (in Hamadan). VAR_002947
58 - 58 N -> K (in G-ferrara; unstable). VAR_002948
59 - 59 P -> R (in Dhofar/Yukuhashi). VAR_002949
60 - 60 K -> E (in I-High Wycombe). VAR_002950
61 - 61 V -> A (in Collingwood; unstable). VAR_002951
62 - 62 K -> E (in N-Seatlle). VAR_002952
62 - 62 K -> M (in Bologna; O(2) affinity down). VAR_002953
62 - 62 K -> N (in Hikari). VAR_002954
63 - 63 A -> D (in J-Europa). VAR_002955
63 - 63 A -> P (in Duarte; unstable). VAR_002956
64 - 64 H -> Y (in M-Saskatoon; O(2) affinity up). VAR_002957
66 - 66 K -> M (in J-Antakya). VAR_002958
66 - 66 K -> N (in J-Sicilia). VAR_002959
66 - 66 K -> Q (in J-Cairo). VAR_002960
67 - 67 K -> T (in Chico; O(2) affinity down). VAR_002961
68 - 68 V -> A (in Sydney; unstable). VAR_002962
68 - 68 V -> D (in Bristol). VAR_035240
68 - 68 V -> G (in non-spherocytic haemolytic anemia; Manukau; dbSNP:rs33918343). VAR_040060 33918343
68 - 68 V -> M (in Alesha; unstable). VAR_002963
69 - 69 L -> H (in Brisbane; O(2) affinity up). VAR_002964
69 - 69 L -> P (in Mizuho; unstable). VAR_002965
70 - 70 G -> D (in Rambam). VAR_002966
70 - 70 G -> R (in Kenitra). VAR_002967
70 - 70 G -> S (in City of Hope). VAR_002968
71 - 71 A -> D (in Seattle; O(2) affinity down; unstable). VAR_002969
72 - 72 F -> S (in Christchurch; unstable). VAR_002970
74 - 74 D -> G (in Tilburg; O(2) affinity down). VAR_002971
74 - 74 D -> V (in Mobile; O(2) affinity down). VAR_002972
74 - 74 D -> Y (in Vancouver; O(2) affinity down). VAR_002973
75 - 75 G -> R (in Aalborg; unstable). VAR_002974
75 - 75 G -> V (in Bushwick; unstable). VAR_002975
76 - 76 L -> P (in Atlanta; unstable). VAR_002976
76 - 76 L -> R (in Pasadena; O(2) affinity up; unstable). VAR_002977
77 - 77 A -> D (in J-Chicago). VAR_002978
78 - 78 H -> D (in J-Iran). VAR_002979
78 - 78 H -> R (in Costa Rica). VAR_002980
78 - 78 H -> Y (in Fukuyama). VAR_002981
79 - 79 L -> R (in Quin-hai). VAR_002982
80 - 80 D -> Y (in Tampa). VAR_002983
81 - 81 N -> K (in G-Szuhu/Gifu). VAR_002984
82 - 82 L -> H (in La Roche-sur-Yon; unstable and O(2) affinity up). VAR_012663
82 - 82 L -> R (in Baylor; unstable). VAR_002985
82 - 82 L -> V (in dbSNP:rs11549406). VAR_049273 11549406
83 - 83 K -> M (in Helsinki; O(2) affinity up). VAR_002986
83 - 83 K -> N (in Providence). VAR_012664
84 - 84 G -> D (in Pyrgos). VAR_025396
84 - 84 G -> R (in Muskegon). VAR_002987
85 - 85 T -> I (in Kofu). VAR_002988
87 - 87 A -> D (in Olomouc; O(2) affinity up). VAR_002989
88 - 88 T -> I (in Quebec-Chori). VAR_002990
88 - 88 T -> K (in D-Ibadan). VAR_002991
88 - 88 T -> P (in Valletta). VAR_002992
89 - 89 L -> P (in Santa Ana; unstable). VAR_002993
89 - 89 L -> R (in Boras; unstable). VAR_002994
90 - 90 S -> N (in Creteil; O(2) affinity up). VAR_002995
90 - 90 S -> R (in Vanderbilt; O(2) affinity up). VAR_002996
91 - 91 E -> D (in Pierre-Benite; O(2) affinity up). VAR_002997
91 - 91 E -> K (in Agenogi; O(2) affinity down). VAR_002998
92 - 92 L -> P (in Sabine; unstable). VAR_002999
92 - 92 L -> R (in Caribbean; O(2) affinity down; unstable). VAR_003000
93 - 93 H -> D (in J-Altgelds Gardens; unstable). VAR_003001
93 - 93 H -> N (in Isehara; unstable). VAR_003002
93 - 93 H -> P (in Newcastle and Duino; associated with S-104 in Duino; unstable). VAR_003003
93 - 93 H -> Q (in Istambul; O(2) affinity up; unstable). VAR_003004
94 - 94 C -> R (in Okazaki; O(2) affinity up; unstable). VAR_003005
95 - 95 D -> G (in Chandigarh). VAR_003006
95 - 95 D -> H (in Barcelona; O(2) affinity up). VAR_003007
95 - 95 D -> N (in Bunbury; O(2) affinity up). VAR_003008
96 - 96 K -> M (in J-Cordoba). VAR_003009
96 - 96 K -> N (in Detroit). VAR_003010
97 - 97 L -> P (in Debrousse; unstable; O(2) affinity up). VAR_003011
97 - 97 L -> V (in Regina; O(2) affinity up). VAR_003012
98 - 98 H -> L (in Wood; O(2) affinity up). VAR_003013
98 - 98 H -> P (in Nagoya; O(2) affinity up; unstable). VAR_003014
98 - 98 H -> Q (in Malmoe; O(2) affinity up). VAR_003015
98 - 98 H -> Y (in Moriguchi). VAR_003016
99 - 99 V -> G (in Nottingham; unstable). VAR_003017
100 - 100 D -> E (in Coimbra; O(2) affinity up). VAR_003018
101 - 101 P -> L (in Brigham; O(2) affinity up). VAR_003019
101 - 101 P -> R (in New Mexico). VAR_003020
102 - 102 E -> D (in Potomac; O(2) affinity up). VAR_003021
102 - 102 E -> G (in Alberta; O(2) affinity up). VAR_003022
102 - 102 E -> K (in British Columbia; O(2) affinity up). VAR_003023
102 - 102 E -> Q (in Rush; unstable). VAR_003024
103 - 103 N -> S (in Beth Israel; O(2) affinity down; unstable). VAR_003025
103 - 103 N -> Y (in St Mande; O(2) affinity down). VAR_003026
104 - 104 F -> L (in Heathrow; O(2) affinity up). VAR_003027
105 - 105 R -> S (in Camperdown and Duino; associated with P-92 in Duino; unstable). VAR_003028
105 - 105 R -> T (in Sherwood Forest). VAR_003029
108 - 108 G -> R (in Burke; O(2) affinity down; unstable). VAR_003030
109 - 109 N -> K (in Presbyterian; O(2) affinity down; unstable). VAR_003031
110 - 110 V -> M (in San Diego; O(2) affinity up). VAR_003032
111 - 111 L -> P (in Showa-Yakushiji). VAR_003033
112 - 112 V -> A (in Stanmore; O(2) affinity down; unstable). VAR_003034
113 - 113 C -> F (in Canterbury). VAR_025397
113 - 113 C -> R (in Indianapolis). VAR_003035
113 - 113 C -> Y (in Yahata). VAR_003036
115 - 115 L -> M (in Zengcheng). VAR_010144
115 - 115 L -> P (in Durham-N.C./Brescia; causes beta-thalassemia). VAR_010145
116 - 116 A -> D (in Hradec Kralove; unstable; causes severe beta-thalassemia). VAR_003037
116 - 116 A -> P (in Madrid; unstable). VAR_003038
117 - 117 H -> L (in Vexin; increased oxygen affinity). VAR_025398
117 - 117 H -> Q (in Hafnia). VAR_003039
118 - 118 H -> P (in Saitama; unstable). VAR_003040
118 - 118 H -> R (in P-Galveston). VAR_003041
118 - 118 H -> Y (in Tsukumi). VAR_025399
120 - 120 G -> A (in Iowa). VAR_003042
121 - 121 K -> E (in Hijiyama). VAR_003043
121 - 121 K -> I (in Jianghua). VAR_003044
121 - 121 K -> Q (in Takamatsu). VAR_003045
122 - 122 E -> A (in D-Neath). VAR_003046
122 - 122 E -> G (in St Francis). VAR_003047
122 - 122 E -> K (in O-Arab). VAR_003049
122 - 122 E -> Q (in D-Los Angeles/D-Punjab/D- Portugal/D-Chicago/D-Oak Ridge). VAR_003048
122 - 122 E -> V (in D-Camperdown/Beograd). VAR_003050
124 - 124 T -> I (in Villejuif; asymptomatic variant). VAR_003051
125 - 125 P -> Q (in Ty Gard; O(2) affinity up). VAR_003053
125 - 125 P -> R (in Khartoum; unstable). VAR_003052
125 - 125 P -> S (in Tunis). VAR_003054
127 - 127 V -> A (in Beirut). VAR_003055
127 - 127 V -> E (in Hofu; unstable). VAR_003057
127 - 127 V -> G (in Dhonburi/Neapolis; unstable; beta-thalassemia). VAR_003056
128 - 128 Q -> E (in Complutense). VAR_003058
128 - 128 Q -> K (in Brest; unstable). VAR_003059
129 - 129 A -> D (in J-Guantanamo; unstable). VAR_003060
130 - 130 A -> P (in Crete; O(2) affinity up; unstable). VAR_003061
130 - 130 A -> V (in La Desirade; O(2) affinity down; unstable). VAR_003062
131 - 131 Y -> D (in Wien; unstable). VAR_003063
131 - 131 Y -> S (in Nevers). VAR_003064
132 - 132 Q -> E (in Camden/Tokuchi/Motown). VAR_003065
132 - 132 Q -> K (in Shelby/Leslie/Deaconess; unstable). VAR_003066
132 - 132 Q -> P (in Shangai; unstable). VAR_003067
132 - 132 Q -> R (in Sarrebourg; unstable). VAR_003068
133 - 133 K -> N (in Yamagata; O(2) affinity down). VAR_003069
133 - 133 K -> Q (in K-Woolwich). VAR_003070
134 - 134 V -> L (in Extredemura). VAR_003071
135 - 135 V -> E (in North Shore-Caracas; unstable). VAR_003072
136 - 136 A -> E (in Beckman; O(2) affinity down; unstable). VAR_003073
136 - 136 A -> P (in Altdorf; O(2) affinity up; unstable). VAR_003074
137 - 137 G -> D (in Hope; O(2) affinity down; unstable). VAR_003075
139 - 139 A -> P (in Brockton; unstable). VAR_003076
140 - 140 N -> D (in Geelong; unstable). VAR_003077
140 - 140 N -> K (in Hinsdale; O(2) affinity down). VAR_003078
140 - 140 N -> S (in S-Wake; associated with V-6). VAR_025335
140 - 140 N -> Y (in Aurora; O(2) affinity up). VAR_003079
141 - 141 A -> D (in Himeji; unstable; O(2) affinity down). VAR_003080
141 - 141 A -> T (in St Jacques: O(2) affinity up). VAR_003081
141 - 141 A -> V (in Puttelange; polycythemia; O(2) affinity up). VAR_003082
142 - 142 L -> R (in Olmsted; unstable). VAR_003083
143 - 143 A -> D (in Ohio; O(2) affinity up). VAR_003084
144 - 144 H -> D (in Rancho Mirage). VAR_003085
144 - 144 H -> P (in Syracuse; O(2) affinity up). VAR_003087
144 - 144 H -> Q (in Little Rock; O(2) affinity up; dbSNP:rs36020563). VAR_003086 36020563
144 - 144 H -> R (in Abruzzo; O(2) affinity up). VAR_003088
145 - 145 K -> E (in Mito; O(2) affinity up). VAR_003089
146 - 146 Y -> C (in Rainier; O(2) affinity up). VAR_003090
146 - 146 Y -> H (in Bethesda; O(2) affinity up). VAR_003091
147 - 147 H -> D (in Hiroshima; O(2) affinity up). VAR_003092
147 - 147 H -> L (in Cowtown; O(2) affinity up). VAR_003093
147 - 147 H -> P (in York; O(2) affinity up). VAR_003094
147 - 147 H -> Q (in Kodaira; O(2) affinity up). VAR_003095
Database cross-references
UniProt: P68871Ensembl: ENST00000335295
MIM: 140700
MIM: 141900
MIM: 603902
MIM: 603903
MIM: 613985
neXtProt: NX_P68871
Antibodypedia: P68871 (may not find the protein thus also not any antibody)
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