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HBM Gene

protein-coding GIFtS: 38

GC16P000177

hemoglobin, mu
(Previous names: hemoglobin, alpha pseudogene 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HBAP2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
HBAP2 ^², ³
Mu-globin ^³

Descriptions
Hemoglobin mu chain ^², ³
alpha globin pseudogene 2 ^²
hemoglobin, alpha pseudogene 2 ^¹, ²
hemoglobin, mu ^²

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

Search outside databases for aliases for HBM gene

Previous GC identifers: GC16U900495 GC16P000161 GC16P000163 GC16P000164 GC16P000165 GC16P000174 GC16P000175

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for HBM:

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]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HBM gene

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)

GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P000177: (about GC identifiers)

Start:	155,973 bp from pter
End:	156,767 bp from pter
Size:	795 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000016.8 NT_037887.4

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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

REFSEQ proteins: NP_001003938.1

ENSEMBL proteins:

ENSP00000349270

Human Recombinant Proteins

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	Browse Abnova for Human Recombinant Proteins

OriGene Purified Recombinant Human Protein: HBM

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005833	hemoglobin complex	IEA	--

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Antibodies for HBM:

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	Search Novus for antibodies for HBM

Assays for HBM:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001003938

Applied Biosystems Silencer® siRNAs for HBM

Sigma-Aldrich siRNA for HBM

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for HBM
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_001003938
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001003938
untagged cDNA clone in CMV expression vector: NM_001003938

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001003938

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005344	oxygen transporter activity	IEA	--
GO:0019825	oxygen binding	IEA	--
GO:0020037	heme binding	IEA	--
GO:0046872	metal ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	IEA	--
GO:0015671	oxygen transport	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HBM

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001003938

Sigma-Aldrich siRNA for HBM

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001003938

REFSEQ mRNAs for HBM gene:

NM_001003938.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001003938

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001003938
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001003938
                                 untagged cDNA clone in CMV expression vector: NM_001003938

Additional cDNA sequence:

AY698022.2 BC035682.1 BC067870.1 CR597411.1

4 DOTS entries:

DT.435305 DT.92418458 DT.92414607 DT.446568

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

N53495 CR601946 AA333833 BF898619 CR610186 CR612601 CR608113 AJ705502

H70122 H04528 AW161306 AA343098 AJ705558 AA382988 H00404 AA300349

AA332871 CR594455 AA330185 CR613936 BE244453 CR626195 AJ708687 BC067870

highest scoring ESTs for HBM:

AI242749 AY698022 BC035682 BC067870 BX405468 BX448123 BX462947 CR597411 AA418551 AI400986

Unigene Cluster for HBM:

Hemoglobin, mu

Hs.647389 [show with all ESTs]

Unigene Representative Sequence: BM920011

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000356815

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HBM expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HBM

¹ / ² / ³

3 probe-sets matching HBM gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
80271_at²^{, 3}	U95-D	1	0.94	1.00	1.00	1.00	AI242749	0.60	1.00	0.82	1
240336_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI242749	0.60	1.00	0.82	1
240336_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks HBM for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTGGCGGCTG

SOURCE GeneReport for Unigene cluster: Hs.647389
UniProtKB/Swiss-Prot: HBM_HUMAN, Q6B0K9
Tissue specificity: Expressed in erythroid tissues

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

ENSEMBL Gene Tree for HBM

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for HBM gene

HBQ1² HBA1² HBZ² HBZP² HBA2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/14 NCBI SNPs in HBM are shown (see all 14 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 22)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs2858935^1,2	A,C	155855(+)	`ACCCGC/GGCTGG`	1	--	ng5¹		0	--	--	--	--
--	rs2541677^1,2	A,C	155379(-)	`AGGCGC/TCCCCC`	1	--	ng5¹		0	--	--	--	--
--	rs7194649^1,2	A	155106(+)	`CTGGGA/CCAAGT`	1	--	ng5¹		0	--	--	--	--
--	rs35550569^1,2	--	156642(+)	`GCAAA-/ATGCAA`	1	M/N	fra¹		0	--	--	--	--
	rs2541676^1,2	--	156738(-)	`TGACAG/TGCACA`	1	--	ut3¹		0	--	--	--	--
--	rs2974769^1,2	--	154775(+)	`tggggC/TCGcgg`	1	--	ng5¹		0	--	--	--	--
--	rs72763680^1,2	--	155664(+)	`TAGGGA/GGTTTC`	1	--	ng5¹		0	--	--	--	--
--	rs7189804^1,2	--	154984(+)	`gggcCC/GGGGCT`	1	--	ng5¹		0	--	--	--	--
--	rs2698752^1,2	--	155862(-)	`AACGTA/GACCAG`	1	--	ng5¹		0	--	--	--	--
	rs2858937^1,2	--	156844(+)	`CTAAAA/GGGAGC`	1	--	ng3¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for HBM (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 609639

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

7 PubMed articles for HBM gene:

A newly discovered human alpha-globin gene. (PubMed id 15855277)^{2, 3, 4} Goh S.H....Miller J.L. (2005)
A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166)^{2, 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)^{2, 3} Fischel-Ghodsian N....Higgs D.R. (1987)
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PubMed id 16728641)⁴ 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)⁴ 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)³ Strausberg R.L....Marra M.A. (2002)
A previously undetected pseudogene in the human alpha globin gene cluster. (PubMed id 3952001)³ Hardison R.C....Schmid C.W. (1986)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, 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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for HBM
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for HBM:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for HBM-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for HBM		Browse antibodies at Sigma-Aldrich
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	Recombinant & Natural Proteins

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	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for HBM

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for HBM

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HBM Gene

protein-coding GIFtS: 38

Aliases &
Descriptions
for HBM

Summaries
for HBM

Genomic Location
for HBM

Proteins
for HBM

Protein Domains/
Families
for HBM

Gene Function
for HBM

Pathways & Interactions
for HBM

Drugs & Compounds
for HBM

Transcripts
for HBM

Expression
for HBM

Orthologs
for HBM

Paralogs
for HBM

SNPs/Variants
for HBM

Disorders & Mutations
for HBM

Medical News
for HBM

Publications
for HBM

Search for HBM

Genome Databases showing HBM

Other Databases showing HBM

Specialized Databases showing HBM

Licensable Technologies
for HBM

Services
for HBM

Gene Index: 3 5 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

HBM Gene

protein-coding GIFtS: 38

Aliases & Descriptionsfor HBM

Summariesfor HBM

Genomic Locationfor HBM

Proteinsfor HBM

Protein Domains/Familiesfor HBM

Gene Functionfor HBM

Pathways & Interactionsfor HBM

Drugs & Compoundsfor HBM

Transcriptsfor HBM

Expression for HBM

Orthologsfor HBM

Paralogsfor HBM

SNPs/Variantsfor HBM

Disorders & Mutationsfor HBM

Medical Newsfor HBM

Publicationsfor HBM

Search for HBM

Genome Databases showing HBM

Other Databases showing HBM

Specialized Databases showing HBM

Licensable Technologiesfor HBM

Servicesfor HBM

Gene Index: 3 5 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

Aliases &
Descriptions
for HBM

Summaries
for HBM

Genomic Location
for HBM

Proteins
for HBM

Protein Domains/
Families
for HBM

Gene Function
for HBM

Pathways & Interactions
for HBM

Drugs & Compounds
for HBM

Transcripts
for HBM

Expression
for HBM

Orthologs
for HBM

Paralogs
for HBM

SNPs/Variants
for HBM

Disorders & Mutations
for HBM

Medical News
for HBM

Publications
for HBM

Licensable Technologies
for HBM

Services
for HBM