HBM Gene
protein-coding GIFtS: 42
GCID: GC16P000203
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Hemoglobin, Mu(Previous names: hemoglobin, alpha pseudogene 2)
(Previous symbol: HBAP2)
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Aliases
for HBM gene
(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 |
Export aliases for HBM gene to outside databasesPrevious GC identifers: GC16U900495 GC16P000161 GC16P000163 GC16P000164 GC16P000165 GC16P000174 GC16P000175 GC16P000177 GC16P000179 GC16P000134 |
Summaries
for HBM gene(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 polypeptidewhich is similar to the delta globins found in reptiles and birds. This locus was originally described as apseudogene; 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.
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Genomic Views
for HBM gene
(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
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: 16p13.3HBM Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P000203: view genomic region
(about GC identifiers)
Start:
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203,891 bp from pter |
End:
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216,767 bp from pter |
Size:
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12,877 bases |
Orientation:
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plus strand |
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Proteins
for HBM gene
(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
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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 differentiationExplore 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 
REFSEQ proteins: NP_001003938.1
ENSEMBL proteins: ENSP00000349270
Human Recombinant Protein Products for HBM:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005833 | hemoglobin complex |
IEA | -- |
HBM for ontologies About GeneDecksing
HBM Antibody Products:
Assay Products for HBM: |
Protein
Domains /
Families
for HBM gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| 4 InterPro protein domains:Graphical View of Domain Structure for InterPro Entry Q6B0K9 ProtoNet protein and cluster: Q6B0K9 UniProtKB/Swiss-Prot: HBM_HUMAN, Q6B0K9Similarity: Belongs to the globin family
HBM for domains About GeneDecksing
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Function
for HBM gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene.)
About This Section
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Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
HBM for ontologies About GeneDecksing
Animal Models:
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBM |
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Pathways & Interactions
for HBM gene
(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
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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)About this table
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Drugs & Compounds
for HBM gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
IUPHAR,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for HBM
1 HMDB Compound for HBM About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| Heme | (protoporphyrinato)iron (see
all 19) | 14875-96-8 | -- |
Search CenterWatch for drugs/clinical trials and news about HBM
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Transcripts
for HBM gene(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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
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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: BM9200113 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000472539 ENST00000496585 ENST00000356815(uc002cfu.1)
Primer
Products: |  | OriGene qPCR primer pairs and template standards for HBM
OriGene qSTAR qPCR primer pairs in human, mouse for HBM
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat HBM | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBM | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBM |
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
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Expression
for HBM gene
(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGGCGGCTG
About this image
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, Q6B0K9Tissue specificity: Expressed in erythroid tissues
SABiosciences Custom PCR Arrays for HBM
Primer
Products: | | OriGene qPCR primer pairs and template standards for HBM
OriGene qSTAR qPCR primer pairs in human, mouse for HBM
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat HBM | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBM | | | 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
for HBM gene
(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
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This gene was present in the common ancestor of chordates.
Orthologs for HBM gene from 4/6 species (see all 6) About this table
ENSEMBL Gene Tree for HBM (if available)
TreeFam Gene Tree for HBM (if available) |
Paralogs
for HBM gene(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
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Genomic Variants
for HBM gene(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
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| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
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
Human Gene Mutation Database (HGMD): HBM
| | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBM |
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Disorders
/ Diseases
for HBM gene
(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
|
HBM for disorders About GeneDecksing
OMIM gene information: 609639
OMIM disorders: --
13  diseases for HBM: About MalaCardslrp5-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
Export disorders for HBM gene to outside databases
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Publications
for HBM gene (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
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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 |
- A newly discovered human alpha-globin gene. (PubMed id 15855277)1, 2, 3 Goh S.-H.... Miller J.L. (2005)
- 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)
- 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)
- Persistent cyanosis in a 4 month old infant with seve re pneumonia and haemoglobin M. (PubMed id 19199228)1 HA1tten M....Heimann K. (2009)
- 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)
- 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)
- 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)
- A previously undetected pseudogene in the human alpha globin gene cluster. (PubMed id 3952001)1 Hardison R.C....Schmid C.W. (1986)
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External Searches for HBM gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing HBM gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing HBM gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HBM gene(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
|
| Name | Description |
| PharmGKB entry for HBM | Pharmacogenomics, SNPs, Pathways |
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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
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Products
for HBM gene(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, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HBM | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBM | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBM | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBM | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBM | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBM |
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| | | | Search Tocris compounds for HBM |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBM |
|  |  |  |  | | | | ThermoFisher Antibodies for HBM |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBM |
| |  |  | | | | LSBio Antibodies in human, mouse, rat for HBM |
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