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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.

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
GH16G000104 1.6 FANTOM5 ENCODE dbSUPER 52.1 -49.1 -49110 1.0 HDGF ATF1 GLI4 ZNF2 YY1 TCF12 GLIS2 GATA2 SP3 ZNF592 HBM ENSG00000228779 NPRL3 HBZ MPG RHBDF1 HBQ1 SNRNP25 NHLRC4 GC16P000124
GH16G000144 1.2 FANTOM5 dbSUPER 39.8 -10.7 -10737 0.3 ARNT TCF12 ZNF766 ELK1 GATA2 ZNF592 MBD2 SMARCA4 MYNN NR2C1 HBM LOC100129478 LUC7L FAM234A HBQ1 NHLRC4 HBZ GC16M000144
GH16G000066 1.8 FANTOM5 ENCODE dbSUPER 11.5 -80.4 -80391 13.6 HDGF PKNOX1 ARNT MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 NPRL3 RHOT2 CAPN15 WASH4P MPG JMJD8 ENSG00000228779 HBZ HBM SNRNP25
GH16G000180 1.4 Ensembl ENCODE 13.2 +27.2 27207 1.9 HNRNPUL1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 LOC105371038 RHOT2 ENSG00000268836 ENSG00000260022 HBM HBZ JMJD8 WASH4P FAM234A PIGQ
GH16G000113 1.3 ENCODE dbSUPER 12.8 -40.3 -40251 2.4 HNRNPUL1 HDGF PKNOX1 CREB3L1 MLX ARNT ARID4B SLC30A9 ZNF766 FOS NPRL3 HBZ HBM 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 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

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
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 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

Clone 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 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:

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(4.2)
  • 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
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
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
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

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