HBA1 (hemoglobin subunit alpha 1)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3039
Gene name Gene Name - the full gene name approved by the HGNC.
Hemoglobin subunit alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HBA1
Synonyms (NCBI Gene) Gene synonyms aliases
ECYT7, HBA-T3, HBH, METHBA
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT1041439 hsa-miR-4272 CLIP-seq
MIRT1041440 hsa-miR-4787-5p CLIP-seq
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
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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
141800 4823 ENSG00000206172
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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 (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
alpha thalassemia alpha Thalassemia rs1596573477, rs34883113, rs63750751, rs34021271, rs28928878, rs35993655, rs33964317, rs1377412693, rs767911847 N/A
Erythrocytosis erythrocytosis, familial, 7 rs1596573335, rs33978134 N/A
Show/Hide Unknown Diseases (5)
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, ClinVar
Hemoglobin H Disease hemoglobin H disease N/A N/A GenCC
Hemoglobin M Disease hemoglobin M disease N/A N/A GenCC
Hydrops Fetalis Hb Bart's hydrops fetalis N/A N/A GenCC
Show/Hide Text Mining Associations (65)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
alpha Thalassemia Associate 14576055, 16103716, 17296578, 18166800, 18691171, 23614625, 24627726, 25024506, 26316481, 26824843, 27173219, 27665672, 28901454, 32482310, 32751969
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alpha Thalassemia Inhibit 21345100
Alzheimer Disease Associate 10404591
Anemia Associate 19349619, 2214342, 34764282, 37548329, 39530711
Anemia Hemolytic Associate 18691171, 32199931
Anemia Hemolytic Congenital Associate 37697358
Anemia hypochromic microcytic Associate 12542500, 27624280
Anemia Sickle Cell Associate 18691171, 23406172, 26316481, 34334003, 36939273, 38626234, 39252479
Asthma Associate 37146352
beta Thalassemia Associate 12176917, 12353305, 1698102, 19794088, 21114907, 2214342, 24351118, 27080228, 2713503, 27173219, 28901454, 29049312, 33940155, 34708592, 38059617
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