HBD Gene

Aliases
for HBD gene

Previous GC identifers: GC11M005996 GC11M005549 GC11M005206 GC11M005213 GC11M005217 GC11M005204 GC11M005210 GC11M005251 GC11M004913

Summaries
for HBD gene

Genomic Views
for HBD gene

RefSeq DNA sequence:

NC_000011.9  NC_018922.1  NT_009237.18  

SwitchGear Promoter luciferase reporter plasmid: HBD promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBD

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


GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005253:  view genomic region     (about GC identifiers)

Proteins
for HBD gene

2 PDB 3D structures from and Proteopedia for HBD:

1SHR (3D)        1SI4 (3D)    

Explore the universe of human proteins at neXtProt for HBD: NX_P02042

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: HBD OriGene Custom Protein Services for HBD
	GenScript Custom Purified and Recombinant Proteins Services for HBD
	Novus Biologicals HBD Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Browse OriGene Antibodies OriGene Custom Antibody Services for HBD
	GenScript Custom Superior Antibodies Services for HBD
	Abcam antibodies for HBD
	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for HBD

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HBD
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

Protein Domains /
Families
for HBD gene

ProtoNet protein and cluster: P02042

Function
for HBD gene

miRNA Products:		OriGene 3'-UTR Clone: HBD Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBD
		1 QIAGEN miScript miRNA Assays for microRNA that regulate HBD:
		hsa-miR-3160-3p
		SwitchGear 3'UTR luciferase reporter plasmid: HBD 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBD OriGene shRNA RFP: HBD OriGene siRNA: HBD
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBD

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for HBD

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBD OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBD OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: HBD (NM_000519)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBD
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBD

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HBD
		Search LifeMap BioReagents cell lines for HBD

In Situ Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBD

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

Pathways & Interactions
for HBD gene

	Super-pathway	contained gene-specific pathways
1	Expression of globin genes under control of the beta globin control region	Expression of globin genes under control of the beta globin control region 1.00
2	Factors involved in megakaryocyte development and platelet production	Factors involved in megakaryocyte development and platelet production 1.00
3	African trypanosomiasis	African trypanosomiasis 1.00
4	Malaria	Malaria 1.00
5	Platelet activation, signaling and aggregation	Hemostasis 0.43

3        Reactome Pathways for HBD

	Hemostasis
	Factors involved in megakaryocyte development and platelet production
	Expression of globin genes under control of the beta globin control region

2         Kegg Pathways  (Kegg details for HBD)

	African trypanosomiasis
	Malaria

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

Drugs & Compounds
for HBD gene

Transcripts
for HBD gene

Expression
for HBD gene

HBD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAAGAAGGT

Stem Cell Differentiation: 1 LifeMap Cell
	Name			Category
	PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBD Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse / rat HBD
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBD
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBD

In Situ Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBD

Orthologs
for HBD gene

Paralogs
for HBD gene

Paralogs for HBD gene

HBG2²  HBE1²  CYGB²  HBZ²  HBG1²  HBA2²  HBB²  HBQ1²  

HBA1²  HBM²  

12 SIMAP similar genes for HBD using alignment to 9 protein entries:     HBD_HUMAN (see all proteins):

beta-globin    HBD/HBB    HBB    HBE1    HBG2    HBG1

HBA1    HBA2    HBZ    HBQ1    HBM    CYGB

HBD for paralogs           About GeneDecksing

Genomic Variants
for HBD gene

10/173 NCBI SNPs in HBD are shown (see all 173)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs353249671,2	C	pathogenic	4913169(-)	AGATAA/GGGAGC	1	--	ds5001		0	--	--	--	--
rs342182951,2	C	pathogenic	4913398(-)	CTGGT-/GTGGCTAA	1	--	cds1		0	--	--	--	--
rs344308361,2	C	pathogenic	4914484(-)	ATGGCC/GTGGCT	2	L V	mis1		2		NA	4
rs342246041,2	C	pathogenic	4914532(-)	ACCCT-/AAGGTG	2	R K	fra1		0	--	--	--	--
rs358875071,2	C	pathogenic	4914597(-)	CCCTTG/AGACCC	2	/* /W	stg1		2		NA	4
rs356547851,2	C	pathogenic	4914746(-)	GGGCAG/CGTTGG	2	/T /R	mis1		2		NA	4
rs355183011,2	C	pathogenic	4914918(-)	CCAGCA/GTAAAA	1	--	ut51		1		NA	2
rs356611681,2	C	pathogenic	4914963(-)	TGCTTA/TTCTTA	1	--	ut51		0	--	--	--	--
rs349759111,2	C,F,H,	pathogenic	4914964(-)	CTGCTT/CATCTT	1	--	ut51		3		NS NA	176
rs2004471781,2	C	untested	4913453(-)	CTTTGA/C/G/T          CAAGG	4	D A G V	mis1		1		EU	1323

HapMap Linkage Disequilibrium report for HBD (5253908 - 5256600 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for HBD: --
Human Gene Mutation Database (HGMD): HBD

Locus Specific Mutation Databases (LSDB): HBD

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBD

DNA2.0 Custom Variant and Variant Library Synthesis for HBD

Disorders / Diseases
for HBD gene

13 diseases for HBD

2 Novoseek disease relationships for HBD gene    About this table

Publications
for HBD gene

PubMed articles for HBD gene, integrated from 9 sources (see all 145): (articles sorted by number of sources associating them with HBD)

Utopia: connect your pdf to the dynamic world of online information

1. Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A-->G)] in the TATA box of the delta-globin gene. (PubMed id 15921167)^{1, 2, 9} Frischknecht H. and Dutly F. (2005)
2. Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PubMed id 12402333)^{1, 2, 9} De Angioletti M.... Carestia C. (2002)
3. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence- based DNA sequence analysis. (PubMed id 1742490)^{1, 2, 9} Trifillis P.... Surrey S. (1991)
4. Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. (PubMed id 17145605)^{1, 2} Giambona A....Maggio A. (2006)
5. The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal diagnosis in an Iranian family. (PubMed id 16370491)^{1, 2} Eram S.M.... Abdolhosseini A. (2005)
6. Identification of a new delta chain hemoglobin variant in a beta- thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]. (PubMed id 16370490)^{1, 2} Walker L.... Waye J.S. (2005)
7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
8. Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant detected in west Sicily. (PubMed id 11939506)^{1, 2} De Angioletti M.... Carestia C. (2002)
9. Delta-thalassemic phenotype due to two 'novel' delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)- HbA2-Etolia]. (PubMed id 9101295)^{1, 2} Drakoulakou O....Papadakis M. (1997)
10. Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family. (PubMed id 8537235)^{1, 2} Papadakis M....Loutradi-Anagnostou A. (1995)

External Searches for HBD gene

Genome Databases showing HBD gene

Other Databases showing HBD gene

Specialized Databases showing HBD gene

Products
for HBD gene