HBM
protein-codinghemoglobin subunit mu, the group of Hemoglobin subunits
Gene 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'. 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]
- HBAP2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~12.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to HBM variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001003938.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 25 | 25 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 26 | 0 | 0 | 26 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001003938.1 | 3 | MANE Select | |
| Ensembl | ENSP00000349270.3 | 3 | MANE Select | |
| Ensembl | ENSP00000765874.1 | 2 | Standard | |
| Ensembl | ENSP00000765875.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- oxygen transport
- hydrogen peroxide catabolic process
- protein heterooligomerization
- cellular oxidant detoxification
Molecular Function
- peroxidase activity
- oxygen carrier activity
- protein binding
- oxygen binding
- heme binding
Cellular Component
- hemoglobin complex
- haptoglobin-hemoglobin complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000356815
- Coding exons
- 3
- Length
- 12877
- Individuals with no LoFs
- 120739
- Homozygous LoFs
- 316
- Heterozygous LoFs
- 3940
- Defined
- 124995
- p
- 0.0172
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.371 | 87 | 77.8 | 1.12 | 0.00000360 | 890 |
| Missense (PolyPhen) | 23 | 20.784 | 1.1066 | 270 | ||
| Synonymous | -0.0762 | 37 | 36.4 | 1.02 | 0.00000187 | 286 |
| Loss of Function | 0.506 | 3 | 4.11 | 0.730 | 1.77e-7 | 41 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0020 | 0.0017 | notable |
| Latino/Admixed American | 0.13 | 0.12 | notable |
| Ashkenazi Jewish | 0.00021 | 0.00020 | rare |
| East Asian | 0.00097 | 0.00093 | rare |
| Finnish | 0.0068 | 0.0055 | notable |
| European (Non-Finnish) | 0.00086 | 0.00079 | rare |
| South Asian | 0.00057 | 0.00056 | rare |
| Other | 0.017 | 0.016 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.107
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.124
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |