|
Gene id |
3040 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
HBA2 Gene UCSC Ensembl |
|
Aliases |
ECYT7, HBA-T2, HBH |
|
Gene name |
hemoglobin subunit alpha 2 |
|
Alternate names |
hemoglobin subunit alpha, alpha globin, alpha-2 globin, hemoglobin alpha chain, hemoglobin, alpha 2, mutant hemoglobin alpha 2 globin chain, truncated HbA2, |
|
Gene location |
16p13.3 (172875: 173709) Exons: 3 NC_000016.10
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
141850 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Thalassemia | KEGG:H00228 |
| Thalassemia | KEGG:H00228 |
| Alpha thalassemia | PMID:4044827 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
|