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HBM Gene

protein-coding   GIFtS: 42
GCID: GC16P000203

Hemoglobin, Mu

(Previous names: hemoglobin, alpha pseudogene 2)
(Previous symbol: HBAP2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hemoglobin, Mu1 2     Alpha Globin Pseudogene 22
HBAP21 2 3     Hemoglobin Subunit Mu2
Hemoglobin, Alpha Pseudogene 21 2     mu-globin2
Hemoglobin Mu Chain2 3     Mu-globin3

External Ids:    HGNC: 48261   Entrez Gene: 30422   Ensembl: ENSG000002061777   OMIM: 6096395   UniProtKB: Q6B0K93   

Export aliases for HBM gene to outside databases

Previous GC identifers: GC16U900495 GC16P000161 GC16P000163 GC16P000164 GC16P000165 GC16P000174 GC16P000175 GC16P000177 GC16P000179 GC16P000134


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, mu) is a protein-coding gene. Diseases associated with HBM include hyperostosis corticalis generalisata, and diffuse cutaneous mastocytosis. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBE1.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the HBM gene promoter:
         COUP-TF1   Sp1   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHBM promoter sequence
   Search Chromatin IP Primers for HBM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HBM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

HBM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBM gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000203:  view genomic region     (about GC identifiers)

Start:
203,891 bp from pter      End:
216,767 bp from pter
Size:
12,877 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HBM_HUMAN, Q6B0K9 (See protein sequence)
Recommended Name: Hemoglobin subunit mu  
Size: 141 amino acids; 15618 Da
Developmental stage: Maximal expression during the erythroblast terminal differentiation

Explore the universe of human proteins at neXtProt for HBM: NX_Q6B0K9

Explore proteomics data for HBM at MOPED


See HBM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001003938.1  
ENSEMBL proteins: 
 ENSP00000349270  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:
 IPR012292 Globin_dom
 IPR002338 Haemoglobin_a
 IPR009050 Globin-like
 IPR000971 Globin

Graphical View of Domain Structure for InterPro Entry Q6B0K9

ProtoNet protein and cluster: Q6B0K9

UniProtKB/Swiss-Prot: HBM_HUMAN, Q6B0K9
Similarity: Belongs to the globin family


HBM for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005344oxygen transporter activity IEA--
GO:0005506iron ion binding IEA--
GO:0019825oxygen binding IEA--
GO:0020037heme binding IEA--
     
HBM for ontologies           About GeneDecksing


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005833hemoglobin complex IEA--

HBM for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HBM
Interactions:

    Search GeneGlobe Interaction Network for HBM

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

Selected Interacting proteins for HBM (ENSP000003492704) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
InteractantInteraction Details
GeneCardExternal ID(s)
COLGALT2ENSP000003549604STRING: ENSP00000354960
COMMD3ENSP000003660324STRING: ENSP00000366032
VPS72ENSP000003578874STRING: ENSP00000357887
HBE1ENSP000002928964STRING: ENSP00000292896
HBG1ENSP000003274314STRING: ENSP00000327431
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HBM

1 HMDB Compound for HBM    About this table
CompoundSynonyms CAS #PubMed Ids
Heme(protoporphyrinato)iron (see all 19)14875-96-8--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for HBM gene: 
NM_001003938.3  

Unigene Cluster for HBM:

Hemoglobin, mu
Hs.647389  [show with all ESTs]
Unigene Representative Sequence: BM920011
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000472539 ENST00000496585 ENST00000356815(uc002cfu.1)
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Additional mRNA sequence: 

AY698022.2 BC035682.1 BC067870.1 

3 DOTS entries:

DT.435305  DT.92418458  DT.97797418 

Selected AceView cDNA sequences (see all 2898):

CR595536 AW161306 AA300328 BQ477883 AA359389 R22107 CR618898 N23732 
CR601289 AA340470 H00404 AJ706144 BU070898 CR610186 BX424381 H47987 
R71733 CR612274 AA321332 AA359582 AA295036 AA333751 BU947789 CR606457 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HBM expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGGCGGCTG
HBM Expression
About this image


HBM expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Adipose (Muscoskeletal System)
         Mesenchymal Stem Cells Subcutaneous White Adipose
 
 Mesenchymal Stem Cells
         Mesenchymal Stem Cells Subcutaneous White Adipose
HBM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HBM Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.647389

UniProtKB/Swiss-Prot: HBM_HUMAN, Q6B0K9
Tissue specificity: Expressed in erythroid tissues

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBM

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for HBM gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia HBM1 hemoglobin, mu 89.36(n)
87.94(a)
  100855616  XM_003639129.2  XP_003639177.1 
chicken
(Gallus gallus)
Aves HBAD6
Gallus gallus alpha-D-globin (HBAD), mRNA.
50(a)
1 ↔ 1
AADN03010595.1(8017-9433)
lizard
(Anolis carolinensis)
Reptilia HBM6
hemoglobin, mu
46(a)
1 ↔ 1
AAWZ02037681(2920-4064)
zebrafish
(Danio rerio)
Actinopterygii HBQ16
hemoglobin, theta 1
40(a)
1 → many
12(21688563-21689767) ENSDARG00000045144


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HBM gene
HBE12  HBG22  HBZ2  HBG12  HBD2  HBA22  HBB2  HBQ12  
HBA12  
9 SIMAP similar genes for HBM using alignment to 1 protein entry:     HBM_HUMAN:
HBZ    HBA2    HBA1    HBE1    HBG1    HBG2
HBQ1    HBB    HBD

HBM for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HBM (see all 78)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1811460371,2
--214770(+) CGGGGC/TGGGGT 1 -- us2k10--------
rs1855881491,2
--214964(+) CGGGGC/TGGGGT 1 -- us2k10--------
rs1918242001,2
--215096(+) CCCACG/TCCGCC 1 -- us2k10--------
rs1835958171,2
--215097(+) CCACGC/TCGCCT 1 -- us2k10--------
rs71946491,2
C,F,A--215106(+) CTGGGC/ACAAGT 1 -- us2k14Minor allele frequency- A:0.18WA NA 242
rs1870061471,2
C--215144(+) CCGAGA/TAGTAC 1 -- us2k10--------
rs1145794641,2
C,F--215219(+) CACAGT/GTCCTG 1 -- us2k11Minor allele frequency- G:0.03WA 118
rs1136352581,2
C,F--215340(+) TCGGTA/CGTCCC 1 -- us2k11Minor allele frequency- C:0.00CSA 1
rs1476595421,2
--215344(+) TCGTCC/TCCACT 1 -- us2k10--------
rs25416771,2
C,F,A,H--215379(-) AGGCGC/TCCCCC 1 -- us2k118Minor allele frequency- T:0.31NS EA WA CSA NA 2328

HapMap Linkage Disequilibrium report for HBM (203891 - 216767 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for HBM (see all 14):    About this table    
Variant IDTypeSubtypePubMed ID
esv2662940CNV Deletion23128226
esv2422427CNV Duplication17116639
dgv2462n71CNV Loss21882294
dgv2461n71CNV Loss21882294
dgv2459n71CNV Loss21882294
dgv2458n71CNV Loss21882294
dgv2460n71CNV Loss21882294
nsv518291CNV Loss19592680
nsv904652CNV Loss21882294
dgv2455n71CNV Loss21882294

Human Gene Mutation Database (HGMD): HBM
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing HBM
DNA2.0 Custom Variant and Variant Library Synthesis for HBM

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609639    OMIM disorders: --

14 diseases for HBM:    
About MalaCards
hyperostosis corticalis generalisata    diffuse cutaneous mastocytosis    van buchem disease type 2    lrp5-related autosomal dominant osteopetrosis
cutaneous mastocytosis    familial exudative vitreoretinopathy, autosomal dominant    osteoporosis-pseudoglioma syndrome    exudative vitreoretinopathy
mastocytosis    hyperostosis    hemoglobinopathy    osteopetrosis
osteoporosis    pneumonia


HBM for disorders           About GeneDecksing


Export disorders for HBM gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for HBM gene integrated from 10 sources:
(articles sorted by number of sources associating them with HBM)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A newly discovered human alpha-globin gene. (PubMed id 15855277)1, 2, 3 Goh S.-H.... Miller J.L. (Blood 2005)
  2. A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166)1, 3 Higgs D.R....Weatherall D.J. (Blood 1989)
  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. (PubMed id 2825132)1, 3 Fischel-Ghodsian N....Higgs D.R. (Nucleic Acids Res. 1987)
  4. Persistent cyanosis in a 4 month old infant with severe pneumonia and haemoglobin M. (PubMed id 19199228)1 HA1tten M....Heimann K. (Klin Padiatr 2009)
  5. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PubMed id 16728641)2 De Gobbi M.... Higgs D.R. (Science 2006)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. A previously undetected pseudogene in the human alpha globin gene cluster. (PubMed id 3952001)1 Hardison R.C....Schmid C.W. (Nucleic Acids Res. 1986)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3042 HGNC: 4826 AceView: HB_ Ensembl:ENSG00000206177 euGenes: HUgn3042
ECgene: HBM H-InvDB: HBM

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for HBM Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for HBM gene:
Search GeneIP for patents involving HBM

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Block miRNA regulation of human, mouse, rat HBM using miScript Target Protectors SeqTarget long-range PCR primers for resequencing HBM
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HBM Predesigned siRNA for gene silencing in human, mouse, rat HBM
 QuantiFast Probe-based Assays in human, mouse, rat HBM QuantiTect SYBR Green Assays in human, mouse, rat HBM
 Custom PCR Arrays for HBM Search Chromatin IP Primers for HBM
 Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HBM  Search GeneGlobe Interaction Network for HBM
 Regulatory tfbs in HBM promoter
 GenScript Custom Purified and Recombinant Proteins Services for HBM GenScript cDNA clones with any tag delivered in your preferred vector for HBM
 GenScript Custom Assay Services for HBM GenScript Custom overexpressing Cell Line Services for HBM
 CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
 Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
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 Search for Antibodies & Assays

 Search Tocris compounds for HBM
 Browse Sino Biological Proteins
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 Search Sino Biological for antibodies, proteins & pathways
 Protein Production Services
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
 HBM lysates
 Search for Antibodies for HBM at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for HBM
 Custom Antibody / Protein Production Service
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 Browse ProSpec Recombinant Proteins
 Browse Proteins at Cloud-Clone Corp.
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 Browse ESI BIO Cell Lines and PureStem Progenitors for HBM
 Gene Synthesis
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBM
 Browse SwitchGear 3'UTR luciferase reporter plasmids for HBM
 SwitchGear Promoter luciferase reporter plasmids for HBM
 ThermoFisher Antibodies for HBM
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBM
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HBM
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HBM
 Search LSBio for Antibodies for HBM
Customized transgenic rodents for:
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 Biomarker expression
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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