HBA2 (hemoglobin subunit alpha 2)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3040
Gene name Gene Name - the full gene name approved by the HGNC.
Hemoglobin subunit alpha 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HBA2
Synonyms (NCBI Gene) Gene synonyms aliases
ECYT7, HBA-T2, HBH
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
ATRX Repression 7697714
GATA1 Unknown 12609092;20564185
KLF4 Activation 20331458
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
141850 4824 ENSG00000188536
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
alpha thalassemia alpha Thalassemia rs41321345, rs41417548, rs63750678, rs63751268, rs41397847, rs587776828, rs281864550, rs281864834, rs587776827, rs886041399, rs1596570041, rs111033603, rs41323248, rs1057519637, rs1263969213
View all (14 more)		 N/A
alpha Thalassemia alpha trait thalassemia, Alpha-thalassemia, Dutch type rs587776826, rs41457746, rs63751457, rs41328049 N/A
beta Thalassemia beta thalassemia rs63750067, rs63751269, rs41464951 N/A
Nonimmune Hydrops Fetalis non-immune hydrops fetalis rs281864846 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anemia Heinz body anemia N/A N/A GenCC
Erythrocytosis erythrocytosis, familial, 7 N/A N/A ClinVar
Hemoglobin H Disease hemoglobin H disease N/A N/A GenCC
Hemoglobin M Disease hemoglobin M disease N/A N/A GenCC
Show/Hide Text Mining Associations (84)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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