Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Transcription factors Gene ontology Other IDs Pathways Associated diseases
Entrez ID	3040
Gene name	Hemoglobin subunit alpha 2
Gene symbol	HBA2
Synonyms (NCBI Gene)	ECYT7HBA-T2HBH
Chromosome	16
Chromosome location	16p13.3
Summary	The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5`- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3`. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. Thes

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Transcription factor	Regulation	Reference
ATRX	Repression	7697714
GATA1	Unknown	12609092;20564185
KLF4	Activation	20331458

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IDA	18077343
GO:0004601	Function	Peroxidase activity	IDA	19740759
GO:0005344	Function	Oxygen carrier activity	IBA
GO:0005344	Function	Oxygen carrier activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	1552945, 6683087, 9441940, 9830011, 9894000, 10390349, 10930828, 11159543, 11724557, 12072504, 15550245, 15835899, 16169070, 23123858, 25156257, 25416956, 28665412, 29997244, 30833564, 32296183, 37398436
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	21805676
GO:0005829	Component	Cytosol	TAS
GO:0005833	Component	Hemoglobin complex	IBA
GO:0005833	Component	Hemoglobin complex	IDA	19740759
GO:0005833	Component	Hemoglobin complex	IEA
GO:0005833	Component	Hemoglobin complex	IPI	881729, 9665850, 15449937, 16765986
GO:0005833	Component	Hemoglobin complex	ISS
GO:0005833	Component	Hemoglobin complex	TAS	7555018
GO:0006954	Process	Inflammatory response	IDA	19740759
GO:0015670	Process	Carbon dioxide transport	NAS	881729, 7518430, 11159543, 15449937
GO:0015671	Process	Oxygen transport	IBA
GO:0015671	Process	Oxygen transport	IDA	11159543, 11307949
GO:0015671	Process	Oxygen transport	IEA
GO:0015671	Process	Oxygen transport	IMP	7518430
GO:0015671	Process	Oxygen transport	NAS	881729
GO:0015671	Process	Oxygen transport	TAS	7518430
GO:0016020	Component	Membrane	HDA	19946888
GO:0019825	Function	Oxygen binding	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0030185	Process	Nitric oxide transport	IDA	8292032
GO:0031720	Function	Haptoglobin binding	IDA	19740759
GO:0031838	Component	Haptoglobin-hemoglobin complex	IBA
GO:0031838	Component	Haptoglobin-hemoglobin complex	IDA	19740759
GO:0042542	Process	Response to hydrogen peroxide	IDA	19740759
GO:0042744	Process	Hydrogen peroxide catabolic process	IDA	19740759
GO:0046872	Function	Metal ion binding	IEA
GO:0048821	Process	Erythrocyte development	IBA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0071682	Component	Endocytic vesicle lumen	TAS
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098869	Process	Cellular oxidant detoxification	IEA

MIM	HGNC	e!Ensembl
141850	4824	ENSG00000188536

Interactions View interactions

	KEGG		Reactome
	African trypanosomiasis Malaria		Erythrocytes take up carbon dioxide and release oxygen Erythrocytes take up oxygen and release carbon dioxide Scavenging of heme from plasma

327

Show/Hide Causal Diseases (33)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal hemoglobin	Pathogenic	rs111033606	RCV000016967
alpha Thalassemia	Likely pathogenic; Pathogenic	rs281864811, rs281864539, rs281864821, rs780091398, rs886041399, rs2505431550, rs281864889, rs41464951, rs41321345, rs41397847, rs41479844, rs281864834, rs111033603, rs33987053, rs121909803 View all (23 more)	RCV002243538 RCV002272715 RCV003110192 RCV003984350 RCV001275677 RCV004548630 RCV003486522 RCV002250461 RCV005007856 RCV000417220 RCV001078246 RCV001275680 RCV000016929 RCV000016930 RCV001078242 RCV001831575 RCV004700242 RCV001831576 RCV001275682 RCV002051787 RCV001078244 RCV004767010 RCV002482879 RCV000016976 RCV001275678 RCV002051788 RCV001826473 RCV001831577 RCV001826474 RCV004018237 RCV000417216 RCV000417225 RCV000417217 RCV001027962 RCV001829445 RCV003323574 RCV001834638 RCV001275679 RCV000786879 RCV000991152 RCV001078247 RCV001289991
Alpha trait thalassemia	Pathogenic	rs587776826	RCV000016943
Alpha-thalassemia, Dutch type	Pathogenic; Likely pathogenic	rs41457746, rs63751457, rs41328049	RCV000016968 RCV000016977 RCV000016979
Alpha-thalassemia, Hmong type	Pathogenic	rs587776828	RCV000016985
Alpha-thalassemia-2, nondeletional	Likely pathogenic; Pathogenic	rs63750067	RCV000016933
beta Thalassemia	Pathogenic; Likely pathogenic	rs41464951, rs63750067, rs63751269	RCV004017255 RCV004017256 RCV004017607
Erythrocytosis, familial, 7	Pathogenic; Likely pathogenic	rs886041399, rs41321345, rs33983416, rs41397847, rs33985574, rs281864834, rs121909803, rs41361546, rs63750067, rs41417548, rs587776827, rs41457746, rs63750678, rs41474145, rs63751269 View all (4 more)	RCV005016663 RCV005007856 RCV000641309 RCV002476982 RCV000641281 RCV005016273 RCV005016274 RCV000641316 RCV002476983 RCV005007858 RCV002496386 RCV002482879 RCV005007859 RCV005007860 RCV002502452 RCV002502453 RCV005010451 RCV005010452 RCV005010753 RCV005021292
HBA2-related disorder	Pathogenic	rs41515552	RCV003413793
Heinz body anemia	Pathogenic; Likely pathogenic	rs2142018005, rs886041399, rs41321345, rs41397847, rs281864834, rs121909803, rs63750067, rs41417548, rs587776827, rs41457746, rs63750678, rs41474145, rs63751269, rs1270810159, rs63751268, rs281864550, rs1263969213 View all (2 more)	RCV001420424 RCV005016663 RCV005007856 RCV002476982 RCV005016273 RCV005016274 RCV002476983 RCV005007858 RCV002496386 RCV002482879 RCV005007859 RCV005007860 RCV002502452 RCV002502453 RCV005010451 RCV005010452 RCV005010753 RCV005021292
HEMOGLOBIN AGRINIO	Pathogenic	rs41341344	RCV000016937
HEMOGLOBIN CLINICO-MADRID	Likely pathogenic	rs587776827	RCV000016954
HEMOGLOBIN COLUMBIA MISSOURI	Pathogenic	rs33983416	RCV000016895
HEMOGLOBIN DARTMOUTH	Likely pathogenic; Pathogenic	rs41323248	RCV000016955
Hemoglobin H disease	Pathogenic; Likely pathogenic	rs886041399, rs41321345, rs41397847, rs281864834, rs121909803, rs63750067, rs41417548, rs587776827, rs41457746, rs63750678, rs41474145, rs63751269, rs1270810159, rs63751268, rs281864550, rs1263969213 View all (1 more)	RCV005016663 RCV005007856 RCV002476982 RCV005016273 RCV005016274 RCV002476983 RCV004595884 RCV002496386 RCV002482879 RCV005007859 RCV005007860 RCV002502452 RCV002502453 RCV005010451 RCV005010452 RCV005010753 RCV005021292
Hemoglobin H disease, nondeletional	Pathogenic; Likely pathogenic	rs41464951, rs121909803, rs63750067, rs41341344, rs41412046, rs41417548, rs587776827, rs63750678	RCV000022603 RCV000016931 RCV000022604 RCV000022605 RCV000016938 RCV000022606 RCV000022607 RCV000016983
HEMOGLOBIN H HYDROPS FETALIS SYNDROME	Likely pathogenic; Pathogenic	rs281864560, rs281864846, rs63750776	RCV002275044 RCV001678588 RCV001678591
HEMOGLOBIN HANAMAKI	Pathogenic	rs41361546	RCV000016932
HEMOGLOBIN HASHARON	Likely pathogenic; Pathogenic	rs281864834	RCV000016911
HEMOGLOBIN ICARIA	Pathogenic	rs41464951	RCV000016893
HEMOGLOBIN J (BUDA)	Pathogenic	rs33985574	RCV000016900
HEMOGLOBIN KOYA DORA	Likely pathogenic; Pathogenic	rs41321345	RCV000016894
HEMOGLOBIN L (FERRARA)	Likely pathogenic; Pathogenic	rs281864834	RCV000016910
HEMOGLOBIN PLASENCIA	Likely pathogenic; Pathogenic	rs41397847	RCV000016981
Hemoglobin Quong Sze	Pathogenic	rs41397847	RCV000016897
HEMOGLOBIN SALLANCHES	Likely pathogenic; Pathogenic	rs41417548	RCV000016942
HEMOGLOBIN SEAL ROCK	Likely pathogenic; Pathogenic	rs41464951	RCV000016939
HEMOGLOBIN SEALY	Likely pathogenic; Pathogenic	rs281864834	RCV000016913
HEMOGLOBIN SINAI	Likely pathogenic; Pathogenic	rs281864834	RCV000016912
HEMOGLOBIN SUAN-DOK	Pathogenic	rs41479844	RCV000016899
HEMOGLOBIN ZURICH ALBISRIEDEN	Likely pathogenic	rs41328049	RCV000016978
Non-immune hydrops fetalis	Pathogenic	rs281864846	RCV001376060
Thalassemia	Pathogenic	rs281864829	RCV005240695

Show/Hide Unknown Diseases (59)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs63750404, rs63751471	-
HEMOGLOBIN AL-HAMMADI RIYADH	other	rs281864859	RCV000016984
HEMOGLOBIN ANAMOSA	other	rs28928889	RCV000016940
HEMOGLOBIN ANTANANARIVO	other	rs33981821	RCV000016949
HEMOGLOBIN BIRMINGHAM (USA)	Uncertain significance	rs41392146	RCV000016915
HEMOGLOBIN BOGHE	other	rs41378349	RCV000016950
HEMOGLOBIN BOYLE HEIGHTS	Uncertain significance	rs34623271	RCV000016927
HEMOGLOBIN CAMPINAS	Uncertain significance	rs281864822	RCV000016952
HEMOGLOBIN CHARTRES	other	rs41430445	RCV000016970
HEMOGLOBIN CONAKRY	other	rs41466346	RCV000016946
HEMOGLOBIN D (BALTIMORE)	other	rs111033601	RCV000016917
HEMOGLOBIN D (ST. LOUIS)	other	rs111033601	RCV000016918
HEMOGLOBIN D (WASHINGTON)	other	rs111033601	RCV000016919
HEMOGLOBIN DAVENPORT	other	rs111033602	RCV000016928
HEMOGLOBIN DECINES-CHARPIEU	other	rs63749997	RCV000016973
HEMOGLOBIN EVANS	Conflicting classifications of pathogenicity	rs41515649	RCV000016898
HEMOGLOBIN FUKUI	other	rs41393644	RCV000016971
HEMOGLOBIN G (AZAKUOLI)	other	rs111033601	RCV000016920
HEMOGLOBIN G (BRISTOL)	other	rs111033601	RCV000016916
HEMOGLOBIN G (CHINESE)	other	rs111033605	RCV000016966
HEMOGLOBIN G (HONG KONG)	other	rs111033605	RCV000016964
HEMOGLOBIN G (HONOLULU)	other	rs111033605	RCV000016963
HEMOGLOBIN G (KNOXVILLE)	other	rs111033601	RCV000016921
HEMOGLOBIN G (PHILADELPHIA)	other	rs111033601	RCV000016922
HEMOGLOBIN G (SINGAPORE)	other	rs111033605	RCV000016965
HEMOGLOBIN GERLAND	other	rs63749934	RCV000016956
HEMOGLOBIN I	Conflicting classifications of pathogenicity	rs281865555	RCV000016905
HEMOGLOBIN I (BURLINGTON)	Conflicting classifications of pathogenicity	rs281865555	RCV000016906
HEMOGLOBIN I (INTERLAKEN)	other	rs34956202	RCV000016903
HEMOGLOBIN I (PHILADELPHIA)	Conflicting classifications of pathogenicity	rs281865555	RCV000016907
HEMOGLOBIN I (SKAMANIA)	Conflicting classifications of pathogenicity	rs281865555	RCV000016908
HEMOGLOBIN I (TEXAS)	Conflicting classifications of pathogenicity	rs281865555	RCV000016909
HEMOGLOBIN INKSTER	Conflicting classifications of pathogenicity	rs41331747	RCV000016925
HEMOGLOBIN J (OXFORD)	other	rs34956202	RCV000016902
HEMOGLOBIN J (SARDEGNA)	Likely benign	rs41461652	RCV000016947
HEMOGLOBIN KNOXVILLE-1	other	rs111033601	RCV000016923
HEMOGLOBIN KURDISTAN	other	rs281864834	RCV000016934
HEMOGLOBIN KUROSAKI	Likely benign	rs34817956	RCV000016982
HEMOGLOBIN LOMBARD	Uncertain significance	rs63750073	RCV000016959
HEMOGLOBIN MANAWATU	other	rs281864826	RCV000016962
HEMOGLOBIN MANITOBA	Likely benign	rs41344646	RCV000016957
HEMOGLOBIN MONTGOMERY	Uncertain significance	rs41392146	RCV000016914
HEMOGLOBIN N (COSENZA)	other	rs34956202	RCV000016904
HEMOGLOBIN NATAL	other	rs41507451	RCV000016944
HEMOGLOBIN NIKAIA	other	rs281864814	RCV000016953
HEMOGLOBIN NORTON	other	rs281864855	RCV000016958
HEMOGLOBIN PARK RIDGE	Uncertain significance	rs111033604	RCV000016936
HEMOGLOBIN PART-DIEU	other	rs41510746	RCV000016972
HEMOGLOBIN PASSY	other	rs41484451	RCV000016980
HEMOGLOBIN RAMPA	Uncertain significance	rs281864881	RCV000016961
HEMOGLOBIN SAN ANTONIO	other	rs281860618	RCV000016960
HEMOGLOBIN SPANISH TOWN	other	rs281864823	RCV000016892
HEMOGLOBIN STANLEYVILLE-I	other	rs111033601	RCV000016924
HEMOGLOBIN SUN PRAIRIE	Conflicting classifications of pathogenicity	rs41529844	RCV000016926
HEMOGLOBIN TARRANT	Conflicting classifications of pathogenicity	rs33933481	RCV000016948
HEMOGLOBIN TOULON	Uncertain significance	rs281864861	RCV000016951
Hemoglobin Val de Marne	other	rs41514946	RCV000016974
HEMOGLOBIN WATTS	other	rs63750943	RCV000016945
HEMOGLOBIN WAYNE	Conflicting classifications of pathogenicity	rs63750520	RCV000016896

Show/Hide Text Mining Associations (84)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute erythroleukemia	Associate	9753066
Alpha mannosidosis type 2	Inhibit	37311778
alpha Thalassemia	Associate	10910890, 10954762, 11074535, 1276470, 14576055, 16103716, 16753851, 1701260, 17076879, 1715793, 17296578, 17606454, 18166800, 1824266, 18534068 View all (80 more)
alpha Thalassemia	Inhibit	25116001, 30425067, 32041645, 33247606
Anemia	Associate	11891810, 16304357, 19349619, 21797707, 25307880, 32720864, 33827577, 34764282, 35289581, 37678999, 39530711
Anemia Aplastic	Associate	16103716
Anemia Hemolytic	Associate	31406232
Anemia Hemolytic Congenital	Associate	37697358
Anemia hypochromic microcytic	Associate	12542500, 31478238, 37098594
Anemia Iron Deficiency	Associate	35354866
Anemia Sickle Cell	Associate	17606453, 19346141, 23406172, 2417644, 24395608, 24716903, 26044545, 28276593, 2827816, 29318647, 31478238, 3167204, 33247606, 34334003, 35319015 View all (11 more)
beta Thalassemia	Associate	10331503, 10398311, 10606872, 11074535, 12192002, 1271422, 12752111, 1362099, 14531920, 14715623, 15645468, 15947092, 16304356, 16304357, 16704446 View all (72 more)
beta Thalassemia	Stimulate	21114907, 9723583
Beta Thalassemia Dominant Inclusion Body Type	Associate	10554822, 3401599
Brain Ischemia	Stimulate	24642708
Cardiomyopathy Dilated	Associate	35052472, 36769209
Cholelithiasis	Associate	32751969
Congenital Disorder Of Glycosylation Type I IIX	Associate	18534068
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	27271331, 31001551
Death	Associate	24716903
Death Sudden Cardiac	Associate	24642708
Delta Beta Thalassemia	Associate	12176917, 22273484
delta Thalassemia	Associate	32901995
Depressive Disorder	Associate	15813858
Disease	Associate	12542500, 17018682, 33059634, 3620699, 37015769, 39207010, 3942832, 508947, 6317863
Drug Related Side Effects and Adverse Reactions	Associate	12192002, 36980829, 40655320
Dykes Markes Harper syndrome	Associate	27271331
Edema	Associate	33596700
Fabry Disease	Associate	10691858, 12542500, 12614224, 16042697, 16409302, 16512835, 16939488, 17018682, 18554871, 27271331, 31060505, 34155213, 36140670, 37311778, 38626234, 507051, 7205903, 7250116 View all (3 more)
Fabry Disease	Inhibit	11122156
Fetal Diseases	Associate	34334003
Fibrosis	Associate	31169972
Gangliosidosis GM1	Associate	1698102
Genetic Diseases Inborn	Associate	40447697, 6208695, 6272199
Glycogen Storage Disease 0 Muscle	Associate	10554822
Growth Disorders	Associate	28007020
Heart Diseases	Associate	24642708
Hemoglobin C Disease	Associate	16019464, 23368878
Hemoglobin C Disease	Stimulate	25515688
Hemoglobin SC Disease	Stimulate	32394645
Hemoglobinopathies	Associate	16273737, 17722269, 2981252, 34510646, 40053336
Hemolysis	Associate	10554822, 23406172, 24716903, 36980829, 5032531
Hemolytic Uremic Syndrome	Associate	20507315
Hemophilia B	Associate	36618297
Hepatitis E	Associate	17222202
HIV Infections	Associate	18643855
Hydrops Fetalis	Associate	1055426, 34334003
Hyperemia	Associate	33247606
Hypertension	Associate	35834496
Hypertension Pulmonary	Associate	24716903
Hypoxia	Associate	21797707
Iron Deficiencies	Associate	30788489
Jaundice	Associate	32751969
Kidney Failure Chronic	Associate	34706968
Leukemia Erythroblastic Acute	Stimulate	1705003
Leukemia Erythroblastic Acute	Associate	6951615
Leukemia Megakaryoblastic Acute	Associate	9753066
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	7795240
Leukemia T Cell	Associate	9753066
Malaria	Associate	1121021
Malnutrition	Associate	21150000
Methemoglobinemia Alpha Globin Type	Associate	6826718
Mucolipidosis II Alpha Beta	Associate	28007020
Multiple Sclerosis	Associate	16504146
Myocardial Infarction	Stimulate	24642708
Myocardial Ischemia	Stimulate	24642708
Neoplastic Syndromes Hereditary	Inhibit	14531920
Osteochondrodysplasias	Associate	33059634
Pain	Associate	20507315
Philadelphia Chromosome	Associate	6935689
Plasminogen Activator Inhibitor 1 Deficiency	Associate	34538821
Polycystic Kidney Diseases	Associate	2443703, 2821260, 3008903
Polycythemia	Associate	35052472
Renal Insufficiency Chronic	Associate	34706968
Shock Hemorrhagic	Associate	34538821
Sickle Cell Trait	Associate	29590102, 3942832, 479366
Soft Tissue Injuries	Associate	34538821
Thalassemia	Associate	10398311, 16019464, 16273737, 22460946, 27077761, 2713511, 28135306, 28945175, 31399060, 32048804, 33827577, 34251753, 34495151, 35289581, 35563395 View all (14 more)
Thalassemia	Inhibit	30808594
Thrombosis	Associate	37408475
Uterine Cervical Neoplasms	Associate	23349856
Vascular Diseases	Associate	33247606
Vertigo	Associate	31495903
Zazam Sheriff Phillips syndrome	Associate	39262298

HBA2 (hemoglobin subunit alpha 2)