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Aliases & Descriptions for HBD
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| Delta-globin 3 | | OTTHUMP00000069639 2 |
| | | Descriptions |
|---|
| Hemoglobin delta chain 3 | | delta globin 2 | | delta-globin chain 2 | | hemoglobin, delta 2 |
|
| | Search outside databases for aliases for HBD genePrevious GC identifers: GC11M005996 GC11M005549 GC11M005206 GC11M005213 GC11M005217 GC11M005204 |
Summaries for HBD(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for HBD: The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq] UniProtKB/Swiss-Prot: HBD_HUMAN, P02042Function: Involved in oxygen transport from the lung to the various peripheral tissuesGene Wiki entry for HBD |
Genomic Location for HBD
(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 HBD gene 
Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.4 HGNC cytogenetic band: 11p15.5HBD 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 11 GeneLoc Exon Structure GeneLoc location for GC11M005210:
(about GC identifiers)
Start:
|
5,210,484 bp from pter |
End:
|
5,212,434 bp from pter |
Size:
|
1,951 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000011.8 NT_009237.17
| Proteins for HBD
(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)
About This Section
| UniProtKB/Swiss-Prot: HBD_HUMAN, P02042 (See
protein sequence)Recommended Name: Hemoglobin subunit delta Size: 147 amino acids; 16055 Da
Subunit: Heterotetramer of two alpha chains and two delta chains in adult hemoglobin A2 (HbA2). HbA2 represents less than 3.5% of adult hemoglobin
PDB structure from and Proteopedia :1SHR (3D)
 1SI4 (3D)
 
Secondary accessions: Q3Y5H3 Q8WXT7Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000510.1
ENSEMBL proteins: ENSP00000292901 ENSP00000369654
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for HBD: Assays for HBD: | Protein
Domains/ Families for HBD(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 P02042
ProtoNet protein and cluster: P02042 1 Blocks protein family: IPB002337 Beta haemoglobin signature
UniProtKB/Swiss-Prot: HBD_HUMAN, P02042Similarity: Belongs to the globin family | Gene Function for HBD
(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.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000519
Applied Biosystems Silencer® siRNAs for HBD
Sigma-Aldrich siRNA for HBD  Sigma-Aldrich shRNA for HBD  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000519                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000519                                  untagged cDNA clone in CMV expression vector: NM_000519 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000519
UniProtKB/Swiss-Prot: HBD_HUMAN, P02042Function: Involved in oxygen transport from the lung to the various peripheral tissuesGenatlas biochemistry entry for HBD:hemoglobin,delta,adult4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for HBD
(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.)
About This Section
| --2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for HBD(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 Tocris compounds for HBD 1 Novoseek chemical compound relationship for HBD gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dihydrofolate |
42.59 |
1 |
8612704 (1) |
About this table
|
Transcripts for HBD(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000519
Sigma-Aldrich siRNA for HBD  Sigma-Aldrich shRNA for HBD  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000519 REFSEQ mRNAs for HBD gene: NM_000519.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000519               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000519                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000519                                  untagged cDNA clone in CMV expression vector: NM_000519  Additional cDNA sequence: AY034468.1 BC069307.1 BC070282.1 DQ655982.2 8 DOTS entries: DT.95198800 DT.95086395 DT.95086397 DT.95287469 DT.85101421 DT.92475803 DT.92476019 DT.99971801 6 AceView cDNA sequences:NM_000519 BC069307 BC070282 AY034468 BG941162 BG940533
highest scoring ESTs for HBD:BF174264 BG940711 V00505 AV757270 AY034468 BC070282 BG942666 BG943559 BG944125 BQ446275 Unigene Cluster for HBD: Hemoglobin, delta Hs.699280 [show with all ESTs]Unigene Representative Sequence: AY034468
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for HBD (see all 7
)
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for HBD
2 Ensembl transcripts including schematic representations: ENST00000292901
ENST00000380299
|
Expression for HBD
(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
| HBD expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for HBD
1 / 2 / 3 4 probe-sets matching HBD gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GCAAGAAGGT
SOURCE GeneReport for Unigene cluster: Hs.699280
Expression variation in blood from EXPOLDB for HBD UniProtKB/Swiss-Prot: HBD_HUMAN, P02042Tissue specificity: Red blood cells |
Orthologs for HBD
(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
|
Orthologs for HBD gene from 1 species
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
mouse (Mus musculus) |
Gm57365 |
7 |
predicted gene 5736 |
-- |
BC147126 |
About this table Species with no ortholog for HBD
ENSEMBL Gene Tree for HBD | Paralogs for HBD(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for HBD gene
- HBB2 HBE12 HBG22 CYGB2 HBG12
|
SNPs/Variants for HBD(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for HBD (up to first 250kb)
|
Disorders & Mutations for HBD
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 142000 UniProtKB/Swiss-Prot: HBD_HUMAN, P02042
Elevated HbA2 level are characteristic of beta-thalassemia trait2 Novoseek disease relationships for HBD gene
About this table
Genatlas disease: HBD thalassemia,delta Human Gene Mutation Database: HBD
|
Medical News for HBD(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for HBD (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
| 10/133 PubMed articles for HBD gene (see all 133
):- 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, 3, 4 Frischknecht H. and Dutly F. (2005)
- Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PubMed id 12402333)1, 3, 4 De Angioletti M.... Carestia C. (2002)
- 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, 3, 4 Trifillis P.... Surrey S. (1991)
- Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations. (PubMed id 17145605)3, 4 Giambona A....Maggio A. (2006)
- 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)3, 4 Eram S.M.... Abdolhosseini A. (2005)
- Identification of a new delta chain hemoglobin variant in a beta- thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp]. (PubMed id 16370490)3, 4 Walker L.... Waye J.S. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant detected in west Sicily. (PubMed id 11939506)3, 4 De Angioletti M.... Carestia C. (2002)
- 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)3, 4 Drakoulakou O....Papadakis M. (1997)
- Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family. (PubMed id 8537235)3, 4 Papadakis M....Loutradi-Anagnostou A. (1995)
|
Search for HBD
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HBD
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing HBD
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HBD(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
|
| Name | Description |
| HbVar | http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBD |
|
| | | About This Section
| --
| Services for HBD(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) About This Section
| 
 Products for HBD:

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Incremental update: 13 Oct 2009
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