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HBM Gene(Protein Coding)

Hemoglobin Subunit Mu

GCID:
GC16P000154
GIFtS:
44
Genes Participants
UDN Logo

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 HBA2.

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

Products:

  1. Regulatory Element

Regulatory Elements for HBM Gene

Enhancers for HBM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around HBM on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the HBM gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for HBM Gene

Proteins for HBM Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for HBM Gene at MOPED

Protein Expression for HBM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:

Protein Domains for HBM Gene

InterPro:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Gene Ontology (GO) - Molecular Function for HBM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen transporter activity IEA --
GO:0019825 oxygen binding IEA --
genes like me logo Genes that share ontologies with HBM: view

Phenotypes for HBM Gene

GenomeRNAi human phenotypes for HBM:
genes like me logo Genes that share phenotypes with HBM: view

Animal Model Products

Inhibitory RNA 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HBM Gene

Pathways & Interactions for HBM Gene

SuperPathways for HBM Gene

PathCards logoMore details on SuperPathways for HBM
No Data Available

Interacting Proteins for HBM Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000349270%0d%0a9606.ENSP00000301691%0d%0a9606.ENSP00000298892%0d%0a9606.ENSP00000251595%0d%0a9606.ENSP00000338082%0d%0a9606.ENSP00000292896%0d%0a
Selected Interacting proteins: ENSP00000349270 for HBM Gene via STRING

Gene Ontology (GO) - Biological Process for HBM Gene

None

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

Drugs & Compounds for HBM Gene

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HBM Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2898) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HBM Gene

Hemoglobin, mu:
Representative Sequences:

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues for HBM Gene

mRNA expression in normal human tissues for HBM Gene
mRNA expression by GTEx 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



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
cow
(Bos Taurus)
 Mammalia HBM 35
  • 84.87 (n)
  • 84.4 (a)
HBM 36
  • 84 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia HBM 35
  • 89.36 (n)
  • 87.94 (a)
HBM 36
  • 88 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia HBM 35
  • 99.05 (n)
  • 97.87 (a)
HBM 36
  • 98 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HBAD 36
  • 50 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HBM 36
  • 46 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii HBQ1 36
  • 40 (a)
 OneToMany
Species with no ortholog for HBM:
  • 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
rs11431675 -- 166,191(+) TCCCC(-/CGG/G)GGGCT intron-variant
rs118054833 -- 166,421(+) AGCCC(G/T)CTGGC reference, synonymous-codon
rs35550569 -- 166,643(+) GCAAA(-/A)TGCAA reference, frameshift-variant
rs2541676 -- 166,739(+) TGACA(A/C/G/T)GCACA utr-variant-3-prime
rs138680549 -- 166,732(+) CTTGG(C/T)CTGTG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv2455n71 CNV Loss 21882294
esv2422427 CNV Duplication 17116639
nsv518291 CNV Loss 19592680
nsv904635 CNV Gain 21882294
dgv2458n71 CNV Loss 21882294
nsv904637 CNV Loss 21882294
nsv827473 CNV Gain 20364138
dgv2459n71 CNV Loss 21882294
dgv2460n71 CNV Loss 21882294
nsv904646 CNV Gain 21882294
dgv2461n71 CNV Loss 21882294
nsv904652 CNV Loss 21882294
esv2662940 CNV Deletion 23128226
dgv2462n71 CNV Loss 21882294

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

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 67
  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
  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
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  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

Products for HBM Gene

Sources for HBM Gene

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