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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'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]
HBM (Hemoglobin Subunit Mu) is a Protein Coding gene. Diseases associated with HBM include Alcohol-Induced Mental Disorder and Alcoholic Psychosis. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBZ.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH16J000154 | Promoter/Enhancer | 1.5 | EPDnew Ensembl dbSUPER | 600.7 | +0.5 | 509 | 1.2 | PRDM10 ZNF629 MTA2 ZIC2 PATZ1 EZH2 HDAC1 ZNF341 ZNF561 KLF9 | HBZ HBM IL9RP3 LOC107983982 HBA2 | |
GH16J000153 | Promoter/Enhancer | 0.9 | EPDnew dbSUPER | 600.7 | -1.1 | -1055 | 0.1 | HDAC1 POLR2A MTA3 NCOR1 ZNF592 TAL1 VEZF1 NR4A1 | HBM HBZ | |
GH16J000152 | Promoter/Enhancer | 0.9 | EPDnew dbSUPER | 600.7 | -1.3 | -1267 | 0.1 | HDAC1 MTA3 NCOR1 ZNF592 TAL1 EBF1 VEZF1 NR4A1 | HBM HBZ | |
GH16J000165 | Promoter | 0.8 | EPDnew Ensembl | 600.4 | +12.0 | 12009 | 0.2 | HNRNPL EZH2 | HBM NPRL3 HBAP1 HBZP1 HBA2 | |
GH16J000104 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 52.2 | -48.9 | -48944 | 1.3 | JUND ZNF24 DPF2 SOX6 TCF12 EP300 NFE2 ZNF316 MAFF YY1 | RF00017-1917 HBM ENSG00000228779 NPRL3 HBZ RHBDF1 MPG HBQ1 SNRNP25 DECR2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004601 | contributes_to peroxidase activity | IBA | 21873635 |
GO:0005344 | oxygen carrier activity | IBA | 21873635 |
GO:0019825 | oxygen binding | IBA | 21873635 |
GO:0020037 | heme binding | IBA | 21873635 |
GO:0031720 | contributes_to haptoglobin binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005833 | hemoglobin complex | IBA | 21873635 |
GO:0031838 | haptoglobin-hemoglobin complex | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015671 | oxygen transport | IEA | -- |
GO:0042744 | hydrogen peroxide catabolic process | IBA | 21873635 |
GO:0098869 | cellular oxidant detoxification | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
heme | Pharma | Agonist | 0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HBM 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HBM 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HBM 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HBAD 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HBM 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | HBQ1 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2690n100 | CNV | gain | 25217958 |
esv2422427 | CNV | duplication | 17116639 |
esv2662940 | CNV | deletion | 23128226 |
esv3637547 | CNV | loss | 21293372 |
nsv1037664 | CNV | gain | 25217958 |
nsv1044142 | CNV | gain | 25217958 |
nsv518291 | CNV | loss | 19592680 |
nsv570938 | CNV | loss | 21841781 |
nsv827473 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alcohol-induced mental disorder |
|
|
alcoholic psychosis |
|
|
hemoglobin h disease |
|
|