HBM Gene

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

Summaries
for HBM gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000016.9  NC_018927.2  NT_010393.17  

SwitchGear Promoter luciferase reporter plasmid: HBM promoter sequence

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

HBM 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)

Proteins
for HBM gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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

HBM Human Recombinant Protein Products:

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	Search GeneTex for Proteins for HBM
	antibodies-online proteins for HBM (2 products)
	Search antibodies-online for peptides for HBM

HBM Antibody Products:

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	antibodies-online antibodies for HBM (3 products)

HBM Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for HBM
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for HBM
	antibodies-online kits for HBM (19 products)

Domains /
Families
for HBM gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q6B0K9

Find genes that share domains with HBM           About GenesLikeMe

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, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

genOway: Develop your customized and physiologically relevant rodent model for HBM

miRNA Products:		Block miRNA regulation of human, mouse, rat HBM using miScript Target Protectors
		Search for qRT-PCR Assays for microRNAs that regulate HBM
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for HBM
		Predesigned siRNA for gene silencing in human, mouse, rat HBM

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for HBM

Clone Products:		OriGene clones in human, mouse for HBM (see all 6) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HBM (NM_001003938)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBM
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBM

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HBM
		Browse ESI BIO Cell Lines and PureStem Progenitors for HBM

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBM

Localization
for HBM gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytosol	2
nucleus	2
extracellular	1

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

Pathways & Interactions
for HBM gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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Drugs & Compounds
for HBM gene

(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, Sets of similar genes according to GenesLikeMe)
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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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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 GenesLikeMe, 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

About this image

Adipose (Muscoskeletal System)
Mesenchymal Stem Cells Subcutaneous White Adipose
Mesenchymal Stem Cells
Mesenchymal Stem Cells Subcutaneous White Adipose

Primer Products:		OriGene qPCR primer pairs and template standards for HBM OriGene qSTAR qPCR primer pairs in human, mouse for HBM
		Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HBM
		QuantiTect SYBR Green Assays in human, mouse, rat HBM
		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)
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Paralogs
for HBM gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Find genes that share paralogs with HBM           About GenesLikeMe

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), 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 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
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1811460371,2		--	214770(+)	CGGGGC/TGGGGT	1	--	us2k1		0	--	--	--	--
rs1855881491,2		--	214964(+)	CGGGGC/TGGGGT	1	--	us2k1		0	--	--	--	--
rs1918242001,2		--	215096(+)	CCCACG/TCCGCC	1	--	us2k1		0	--	--	--	--
rs1835958171,2		--	215097(+)	CCACGC/TCGCCT	1	--	us2k1		0	--	--	--	--
rs71946491,2	C,F,A	--	215106(+)	CTGGGC/ACAAGT	1	--	us2k1		4		WA NA	242
rs1870061471,2	C	--	215144(+)	CCGAGA/TAGTAC	1	--	us2k1		0	--	--	--	--
rs1145794641,2	C,F	--	215219(+)	CACAGT/GTCCTG	1	--	us2k1		1		WA	118
rs1136352581,2	C,F	--	215340(+)	TCGGTA/CGTCCC	1	--	us2k1		1		CSA	1
rs1476595421,2		--	215344(+)	TCGTCC/TCCACT	1	--	us2k1		0	--	--	--	--
rs25416771,2	C,F,A,H	--	215379(-)	AGGCGC/TCCCCC	1	--	us2k1		18		NS 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 ID	Type	Subtype	PubMed ID
esv2662940	CNV	Deletion	23128226
esv2422427	CNV	Duplication	17116639
dgv2462n71	CNV	Loss	21882294
dgv2461n71	CNV	Loss	21882294
dgv2459n71	CNV	Loss	21882294
dgv2458n71	CNV	Loss	21882294
dgv2460n71	CNV	Loss	21882294
nsv518291	CNV	Loss	19592680
nsv904652	CNV	Loss	21882294
dgv2455n71	CNV	Loss	21882294

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

Disorders / Diseases
for HBM gene

(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, Sets of similar genes according to GenesLikeMe)
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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)
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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)

External Searches for HBM gene

Genome Databases showing HBM gene

Other Databases showing HBM gene

Specialized Databases showing HBM gene

Products
for HBM gene

(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, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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