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 tho... See more...

Aliases for HBM Gene

Aliases for HBM Gene

  • Hemoglobin Subunit Mu 2 3 4 5
  • Hemoglobin, Alpha Pseudogene 2 2 3
  • Hemoglobin Mu Chain 3 4
  • Hemoglobin, Mu 2 3
  • Mu-Globin 3 4
  • HBAP2 3 4
  • HBK 2 3
  • Alpha Globin Pseudogene 2 3
  • HBM 5

External Ids for HBM Gene

Previous HGNC Symbols for HBM Gene

  • HBAP2

Previous GeneCards Identifiers for HBM Gene

  • GC16U900495
  • GC16P000161
  • GC16P000163
  • GC16P000164
  • GC16P000165
  • GC16P000174
  • GC16P000175
  • GC16P000177
  • GC16P000179
  • GC16P000203
  • GC16P000134
  • GC16P000154
  • GC16P000533
  • GC16P000573
  • GC16P000634
  • GC16P001211
  • GC16P000207
  • GC16P000476
  • GC16P000503

Summaries for HBM Gene

Entrez Gene Summary for HBM 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'. 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]

GeneCards Summary for HBM Gene

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.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HBM Gene

Genomics for HBM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HBM Gene
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
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HBM

Top Transcription factor binding sites by QIAGEN in the HBM gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • COUP-TF1
  • Sp1

Genomic Locations for HBM Gene

Genomic Locations for HBM Gene
chr16:153,892-166,764
(GRCh38/hg38)
Size:
12,873 bases
Orientation:
Plus strand
chr16:203,891-216,767
(GRCh37/hg19)
Size:
12,877 bases
Orientation:
Plus strand

Genomic View for HBM Gene

Genes around HBM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBM Gene

Proteins for HBM Gene

  • Protein details for HBM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6B0K9-HBM_HUMAN
    Recommended name:
    Hemoglobin subunit mu
    Protein Accession:
    Q6B0K9

    Protein attributes for HBM Gene

    Size:
    141 amino acids
    Molecular mass:
    15618 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HBM Gene

Post-translational modifications for HBM Gene

No Post-translational modifications

Other Protein References for HBM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBM Gene

Domains & Families for HBM Gene

Gene Families for HBM Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HBM Gene

Suggested Antigen Peptide Sequences for HBM Gene

GenScript: Design optimal peptide antigens:
  • Mu-globin (HBM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6B0K9

UniProtKB/Swiss-Prot:

HBM_HUMAN :
  • Belongs to the globin family.
Family:
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBM: view

Function for HBM Gene

Phenotypes From GWAS Catalog for HBM Gene

Gene Ontology (GO) - Molecular Function for HBM Gene

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
genes like me logo Genes that share ontologies with HBM: view
genes like me logo Genes that share phenotypes with HBM: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBM

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HBM Gene

Localization for HBM Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBM gene
Compartment Confidence
cytosol 4
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HBM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005833 hemoglobin complex IBA 21873635
GO:0031838 haptoglobin-hemoglobin complex IBA 21873635
genes like me logo Genes that share ontologies with HBM: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for HBM Gene

Pathways & Interactions for HBM Gene

PathCards logo

SuperPathways for HBM Gene

No Data Available

Gene Ontology (GO) - Biological Process for HBM Gene

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 --
genes like me logo Genes that share ontologies with HBM: view

No data available for Pathways by source and SIGNOR curated interactions for HBM Gene

Drugs & Compounds for HBM Gene

(1) Drugs for HBM Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with HBM: view

Transcripts for HBM Gene

mRNA/cDNA for HBM Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBM

Alternative Splicing Database (ASD) splice patterns (SP) for HBM Gene

No ASD Table

Relevant External Links for HBM Gene

GeneLoc Exon Structure for
HBM

Expression for HBM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HBM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBM Gene

This gene is overexpressed in Whole Blood (x50.2).

Protein differential expression in normal tissues from HIPED for HBM Gene

This gene is overexpressed in Fetal Liver (54.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HBM Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HBM

SOURCE GeneReport for Unigene cluster for HBM Gene:

Hs.647389

mRNA Expression by UniProt/SwissProt for HBM Gene:

Q6B0K9-HBM_HUMAN
Tissue specificity: Expressed in erythroid tissues.

Evidence on tissue expression from TISSUES for HBM Gene

  • Blood(4.4)
  • Pancreas(4.1)
  • Bone marrow(2.5)
genes like me logo Genes that share expression patterns with HBM: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HBM Gene

Orthologs for HBM Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HBM 30 31
  • 99.05 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HBM 30 31
  • 89.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HBM 30 31
  • 84.87 (n)
OneToOne
Chicken
(Gallus gallus)
Aves HBAD 31
  • 50 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HBM 31
  • 46 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii HBQ1 31
  • 40 (a)
OneToMany
Species where no ortholog for HBM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HBM Gene

ENSEMBL:
Gene Tree for HBM (if available)
TreeFam:
Gene Tree for HBM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HBM: view image

Paralogs for HBM Gene

Paralogs for HBM Gene

(9) SIMAP similar genes for HBM Gene using alignment to 1 proteins:

  • HBM_HUMAN
genes like me logo Genes that share paralogs with HBM: view

Variants for HBM Gene

Additional dbSNP identifiers (rs#s) for HBM Gene

Structural Variations from Database of Genomic Variants (DGV) for HBM Gene

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

Variation tolerance for HBM Gene

Residual Variation Intolerance Score: 85.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.77; 33.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HBM Gene

Human Gene Mutation Database (HGMD)
HBM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HBM Gene

Disorders for HBM Gene

MalaCards: The human disease database

(3) MalaCards diseases for HBM Gene - From: DISEASES

Disorder Aliases PubMed IDs
alcohol-induced mental disorder
  • psychoses, alcoholic
alcoholic psychosis
  • alcoholic psychoses
hemoglobin h disease
  • alpha-thalassemia
- elite association - COSMIC cancer census association via MalaCards
Search HBM in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with HBM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HBM Gene

Publications for HBM Gene

  1. A newly discovered human alpha-globin gene. (PMID: 15855277) Goh SH … Miller JL (Blood 2005) 2 3 4
  2. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs DR … Weatherall DJ (Blood 1989) 2 3
  3. Unusual features of CpG-rich (HTF) islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of the zeta gene. (PMID: 2825132) Fischel-Ghodsian N … Higgs DR (Nucleic acids research 1987) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for HBM Gene

Sources for HBM Gene