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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 lrp5-related familial exudative vitreoretinopathy, autosomal recessive, and lrp5-related autosomal dominant osteopetrosis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HBM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 

HBM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

HBM Protein Expression

REFSEQ proteins: NP_001003938.1  
ENSEMBL proteins: 
 ENSP00000349270  

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

HBM for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HBM

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

5/15 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
AHSPENSP000003071994STRING: ENSP00000307199
CYB5R3ENSP000003384614STRING: ENSP00000338461
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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--

Search CenterWatch for drugs/clinical trials and news about HBM

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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 

24/2898 AceView cDNA sequences (see all 2898):

T55315 H94674 AA340288 BC005931 F30532 AA343402 CR608818 R94268 
H62157 H73099 AA329584 C05505 N83493 BI031080 CR619822 H04528 
N46980 BM263053 AI242749 CR610186 CR601323 CR600653 R26562 AA339805 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HBM expression in normal human tissues (normalized intensities)      HBM embryonic expression: see
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 
 5/3 selected tissues (see all 3) fully expand
 
 Blood (Hematopoietic System)    fully expand to see all 2 entries
         Cord Blood CD133- Cells   
 
 Umbilical Cord (Extraembryonic Tissues)
         Cord Blood CD133- Cells   
 
 Adipose (Muscoskeletal System)
         Mesenchymal Stem Cells Subcutaneous White Adipose

See HBM Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HBM

SOURCE GeneReport for Unigene cluster: Hs.647389

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

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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBM
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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for HBM gene from 4/6 species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia LOC1008556161 hemoglobin subunit mu-like 89.36(n)
87.94(a)
  100855616  XM_003639129.1  XP_003639177.1 
chicken
(Gallus gallus)
Aves HBAD6
Hemoglobin subunit alpha-D
50(a)
1 ↔ 1
AADN03010595.1(8017-9433)
lizard
(Anolis carolinensis)
Reptilia HBM6
Uncharacterized protein
46(a)
1 ↔ 1
AAWZ02037681(2920-4064)
zebrafish
(Danio rerio)
Actinopterygii HBM6
hemoglobin, mu
40(a)
1 ↔ 1
12(21688563-21689767)


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)
About This Section
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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/78 SNPs in HBM are shown (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) 10/14 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
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 609639    OMIM disorders: --

13 diseases for HBM:    About MalaCards
lrp5-related familial exudative vitreoretinopathy, autosomal recessive    lrp5-related autosomal dominant osteopetrosis    hyperostosis corticalis generalisata, benign form of worth with torus palatinus    lrp5-related familial exudative vitreoretinopathy, autosomal dominant
van buchem disease type 2    osteoporosis-pseudoglioma syndrome    cutaneous mastocytosis    familial exudative vitreoretinopathy, autosomal dominant
diffuse cutaneous mastocytosis    exudative vitreoretinopathy    mastocytosis    hemoglobinopathy
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)
About This Section

PubMed articles for HBM gene integrated from 9 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. (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. (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. (1987)
  4. Persistent cyanosis in a 4 month old infant with seve re pneumonia and haemoglobin M. (PubMed id 19199228)1 HA1tten M....Heimann K. (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. (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. (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. (2002)
  8. A previously undetected pseudogene in the human alpha globin gene cluster. (PubMed id 3952001)1 Hardison R.C....Schmid C.W. (1986)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 3042 HGNC: 4826 AceView: HB_ Ensembl:ENSG00000206177 euGenes: HUgn3042
ECgene: HBM H-InvDB: HBM

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 Novus Tissue Slides
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Customized transgenic rodents for:
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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(GIFtS: 73)
transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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