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HBM Gene(Protein Coding)

Hemoglobin Subunit Mu

GCID:
GC16P000207
GIFtS:
40
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
  • GC16P000154

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. Gene Ontology (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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for HBM Gene

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
GH16I000154 Promoter/Enhancer 1.4 Ensembl dbSUPER 550.8 +0.4 409 0.2 HDAC1 HDGF ATF1 RB1 KLF17 ZNF76 ZNF2 ZNF335 POLR2B GLIS2 HBM HBZ GC16P000481 GC16P000130
GH16I000163 Promoter/Enhancer 1.4 EPDnew Ensembl dbSUPER 550.4 +11.9 11850 4.1 MXI1 SUZ12 CEBPB SP1 GLIS2 EGR1 GMEB1 POLR2A VEZF1 CTBP2 HBM HBZ NPRL3 ENSG00000268836 ENSG00000225323 HBZP1 GC16P000130
GH16I000152 Promoter/Enhancer 1.1 EPDnew dbSUPER 550.8 -1.3 -1267 0.1 HDAC1 ZNF449 NR4A1 EBF1 ZNF592 MTA3 NCOR1 POLR2A VEZF1 SPI1 HBM HBZ GC16M000144 GC16P000130
GH16I000104 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 52.2 -49.1 -49110 1 HDAC1 TEAD4 TAL1 MAX YY1 TCF12 ZNF316 GATA2 NCOR1 CBFA2T2 HBM ENSG00000228779 NPRL3 HBZ MPG RHBDF1 HBQ1 SNRNP25 NHLRC4 GC16P000130
GH16I000144 Enhancer 1.1 FANTOM5 dbSUPER 39.8 -10.7 -10736 0.3 SMAD1 ARNT TCF12 ZNF766 GATA2 NCOA1 ZNF592 MBD2 SMARCA4 MYNN HBZ HBM LOC100129478 LUC7L FAM234A HBQ1 NHLRC4 GC16M000144 GC16P000130
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HBM on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HBM Gene

Genomic Locations for HBM Gene
chr16:153,892-166,768
(GRCh38/hg38)
Size:
12,877 bases
Orientation:
Plus strand
chr16:203,891-216,767
(GRCh37/hg19)

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

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

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

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 carrier 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

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,HDA 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

SuperPathways for HBM Gene

PathCards logo More details on SuperPathways for HBM
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

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

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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



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 33 34
  • 99.05 (n)
dog
(Canis familiaris)
 Mammalia HBM 33 34
  • 89.36 (n)
cow
(Bos Taurus)
 Mammalia HBM 33 34
  • 84.87 (n)
chicken
(Gallus gallus)
 Aves HBAD 34
  • 50 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia HBM 34
  • 46 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii HBQ1 34
  • 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 Variation AA Info Type
rs1001322703 -- 165,736(+) G/T upstream_transcript_variant
rs1001690336 -- 165,535(+) C/T upstream_transcript_variant
rs1003634449 -- 166,817(+) G/A downstream_transcript_variant
rs1005499944 -- 165,478(+) G/A upstream_transcript_variant
rs1005887848 -- 165,784(+) C/A upstream_transcript_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)

Additional Variant Information 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

Additional Disease Information 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 58
  2. A review of the molecular genetics of the human alpha-globin gene cluster. (PMID: 2649166) Higgs DR … Weatherall DJ (Blood 1989) 2 3 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 58

Products for HBM Gene

Sources for HBM Gene

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