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Aliases for HBM Gene

Aliases for HBM Gene

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

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

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. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBZ.

Additional gene information for HBM Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBM Gene

Genomics for HBM Gene

Regulatory Elements for HBM Gene

Enhancers for HBM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H000104 1.3 FANTOM5 ENCODE dbSUPER 52.1 -49.1 -49110 1 TAL1 MAX YY1 TCF12 ZNF316 GATA2 NCOR1 TRIM24 NFE2 MAFK HBM ENSG00000228779 NPRL3 HBZ MPG RHBDF1 HBQ1 SNRNP25 NHLRC4 GC16P000124
GH16H000144 1.2 FANTOM5 dbSUPER 39.7 -10.7 -10737 0.3 HDAC1 PTBP1 RB1 TBL1XR1 ARNT TCF12 ZNF766 GATA2 ELK1 CREM HBM LOC100129478 LUC7L FAM234A HBQ1 NHLRC4 HBZ GC16M000144
GH16H000066 1.8 FANTOM5 ENCODE dbSUPER 11.5 -80.4 -80391 13.6 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 WASH4P WDR90 RHOT2 ENSG00000268836 LUC7L CHTF18 NPRL3 WDR24 RHBDF1 CAPN15
GH16H000180 1.4 Ensembl ENCODE 13.2 +27.2 27207 1.9 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF143 ZNF207 DEK WDR90 WDR24 RHOT2 ENSG00000268836 WASH4P LUC7L ENSG00000269482 CHTF18 JMJD8 LMF1
GH16H000113 1.3 ENCODE dbSUPER 12.8 -40.3 -40251 2.4 HNRNPUL1 HDGF PKNOX1 ARNT ZNF766 FOS REST SMARCB1 ZNF592 MEF2D NPRL3 AXIN1 HBZ HBM JMJD8 WFIKKN1 GC16P000124 ENSG00000228779
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HBM on UCSC Golden Path with GeneCards custom track

Promoters for HBM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082136 408 201 HDAC1 HDGF ATF1 RB1 ZNF76 KLF17 ZNF2 GLIS2 EGR1 CREM

Genomic Locations for HBM Gene

Genomic Locations for HBM Gene
12,877 bases
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:
    Recommended name:
    Hemoglobin subunit mu
    Protein Accession:

    Protein attributes for HBM Gene

    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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HBM Gene

Suggested Antigen Peptide Sequences for HBM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the globin 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:0005344 oxygen transporter activity IEA --
GO:0005506 iron ion binding IEA --
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
GO:0046872 metal ion binding IEA --
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

Inhibitory RNA Products

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

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
extracellular 5
cytosol 4
nucleus 2

Gene Ontology (GO) - Cellular Components for HBM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005833 hemoglobin complex IEA --
GO:0070062 extracellular exosome IDA 23376485
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

No Data Available

Gene Ontology (GO) - Biological Process for HBM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015671 oxygen transport 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

Unigene Clusters for HBM Gene

Hemoglobin, mu:
Representative Sequences:

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for HBM Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HBM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for HBM Gene

NURSA nuclear receptor signaling pathways regulating expression of HBM Gene:


SOURCE GeneReport for Unigene cluster for HBM Gene:


mRNA Expression by UniProt/SwissProt for HBM Gene:

Tissue specificity: Expressed in erythroid tissues.

Evidence on tissue expression from TISSUES for HBM Gene

  • Blood(4.2)
  • Pancreas(4)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with HBM: view

Primer Products

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
(Pan troglodytes)
Mammalia HBM 33 34
  • 99.05 (n)
(Canis familiaris)
Mammalia HBM 33 34
  • 89.36 (n)
(Bos Taurus)
Mammalia HBM 33 34
  • 84.87 (n)
(Gallus gallus)
Aves HBAD 34
  • 50 (a)
(Anolis carolinensis)
Reptilia HBM 34
  • 46 (a)
(Danio rerio)
Actinopterygii HBQ1 34
  • 40 (a)
Species where no ortholog for HBM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for HBM (if available)
Gene Tree for HBM (if available)

Paralogs for HBM Gene

Paralogs for HBM Gene

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

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

Variants for HBM Gene

Sequence variations from dbSNP and Humsavar for HBM Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1001322703 -- 165,736(+) TACCC(G/T)AGGGG upstream-variant-2KB
rs1001690336 -- 165,535(+) CACTT(C/T)ACTAA upstream-variant-2KB
rs1003634449 -- 166,817(+) CTATT(A/G)TTGGC downstream-variant-500B
rs1005499944 -- 165,478(+) CTTGA(A/G)TCGGA upstream-variant-2KB
rs1005887848 -- 165,784(+) CCACG(A/C)GCAAC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv827473 CNV gain 20364138
nsv570938 CNV loss 21841781
nsv518291 CNV loss 19592680
nsv1044142 CNV gain 25217958
nsv1037664 CNV gain 25217958
esv3637547 CNV loss 21293372
esv2662940 CNV deletion 23128226
esv2422427 CNV duplication 17116639
dgv2690n100 CNV gain 25217958

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)

Relevant External Links for HBM Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBM Gene

Disorders for HBM Gene

Relevant External Links for HBM

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for HBM Gene.

No data available for MalaCards , 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 60
  2. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs DR … Weatherall DJ (Blood 1989) 2 3 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 60

Products for HBM Gene

Sources for HBM Gene

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