Free for academic non-profit institutions. Other users need a Commercial license

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.

No data available for 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
GH16F000104 1.2 FANTOM5 ENCODE 52.1 -49.1 -49110 1.0 HDGF ATF1 GLI4 ZNF2 YY1 GLIS2 GATA2 SP3 SMARCA4 GLIS1 HBM ENSG00000228779 NPRL3 HBZ RHBDF1 MPG HBQ1 SNRNP25 NHLRC4 GC16P000121
GH16F000144 0.3 FANTOM5 39.7 -10.7 -10737 0.3 HDAC1 TBL1XR1 GATA2 CREM ZBTB11 ZEB2 MBD2 KLF16 SMARCA4 MYNN HBM LOC100129478 LUC7L FAM234A HBQ1 NHLRC4 HBZ GC16M000144
GH16F000174 0.7 Ensembl 13.2 +22.8 22825 3.7 TBP HDGF PKNOX1 INSM2 SIN3A KLF17 NFXL1 ZNF2 GLIS2 KLF7 HBZ HBM FAM234A NPRL3 ENSG00000268836 GC16P000193 HBA1
GH16F000180 0.2 ENCODE 13.2 +27.5 27455 1.5 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF143 ZNF207 LOC105371038 RHOT2 ENSG00000260022 HBM HBZ ENSG00000268836 JMJD8 WASH4P PIGQ HBQ1
GH16F000112 0.6 ENCODE 12.8 -40.3 -40251 2.4 HDGF ARNT MLX CREB3L1 ARID4B SLC30A9 FOS KLF13 JUNB REST NPRL3 LOC105371038 ENSG00000262528 WASH4P ENSG00000269482 HBZ HBM RHOT2 ENSG00000268836 ENSG00000228779
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000501934 508 801 HDAC1 ATF1 ZNF76 KLF17 GLI4 ZNF2 GLIS2 CREM EGR2 SP3

Genomic Location for HBM Gene

Chromosome:
16
Start:
153,892 bp from pter
End:
166,768 bp from pter
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

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

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

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

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for HBM Gene COMPARTMENTS Subcellular localization image for HBM gene
Compartment Confidence
extracellular 5
cytosol 3
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 for HBM Gene

Pathways & Interactions for HBM Gene

SuperPathways 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

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HBM Gene

GeneLoc Exon Structure for
HBM
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for HBM Gene



NURSA nuclear receptor signaling pathways regulating expression of HBM Gene:

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.
genes like me logo Genes that share expression patterns with HBM: view

Primer Products

No data available for Protein tissue co-expression partners 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 34 35
  • 99.05 (n)
dog
(Canis familiaris)
Mammalia HBM 34 35
  • 89.36 (n)
cow
(Bos Taurus)
Mammalia HBM 34 35
  • 84.87 (n)
chicken
(Gallus gallus)
Aves HBAD 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HBM 35
  • 46 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii HBQ1 35
  • 40 (a)
OneToMany
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

ENSEMBL:
Gene Tree for HBM (if available)
TreeFam:
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
rs112645132 -- 166,821(+) TGTTG(A/G)CCAGT downstream-variant-500B
rs112695301 -- 166,191(+) ATCCC(C/G)GGGCT intron-variant
rs112853656 -- 164,791(+) GGGCG(A/G)GGTCG upstream-variant-2KB
rs113635258 -- 165,341(+) TCGGT(A/C)GTCCC upstream-variant-2KB
rs11431675 -- 166,191(+) TCCCC(-/G)GGGCT intron-variant

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)

Relevant External Links for HBM Gene

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

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:
HBM

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 S.-H. … Miller J.L. (Blood 2005) 2 3 4 64
  2. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs D.R. … Weatherall D.J. (Blood 1989) 2 3 64
  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 D.R. (Nucleic Acids Res. 1987) 2 3 64
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3 64
  5. Persistent cyanosis in a 4 month old infant with severe pneumonia and haemoglobin M. (PMID: 19199228) HA1tten M. … Heimann K. (Klin Padiatr 2009) 3 64

Products for HBM Gene

Sources for HBM Gene

Content
Loading form....