This genomic sequence, which spans 34 kb upstream of the hemoglobin subunit epsilon 1 (HBE1) gene, represents the 5' regulatory region of the human beta-globin gene cluster on chromosome 11. It includes a locus control region (LCR), which can confer developmentally regulated, position-independent and copy number-dependent expression on linked beta-globin genes in transgenic mic... See more...

Aliases for HBB-LCR Gene

Aliases for HBB-LCR Gene

  • Beta-Globin Locus Control Region 3
  • Globin Locus Activation Region (LAR) 3
  • Beta-Globin Dominant Control Region 3
  • Beta-Globin Locus-Activating Region 3
  • Beta-Globin 5' Regulatory Region 3
  • Locus Control Region, Beta 3
  • Beta-Globin LCR 3
  • Beta Glb-LCR 3
  • Beta-DCR 3
  • Beta-LAR 3
  • LCR-Beta 3
  • LCRB 3

External Ids for HBB-LCR Gene

Previous GeneCards Identifiers for HBB-LCR Gene

  • GC11U902985

Summaries for HBB-LCR Gene

Entrez Gene Summary for HBB-LCR Gene

  • This genomic sequence, which spans 34 kb upstream of the hemoglobin subunit epsilon 1 (HBE1) gene, represents the 5' regulatory region of the human beta-globin gene cluster on chromosome 11. It includes a locus control region (LCR), which can confer developmentally regulated, position-independent and copy number-dependent expression on linked beta-globin genes in transgenic mice. The LCR is the major element controlling expression of the downstream beta-globin genes (epsilon, G-gamma, A-gamma, delta and beta, or HBE1, HBG2, HBG1, HBD and HBB, respectively), which are organized on the chromosome in their order of developmental expression. This region includes several DNase I hypersensitive sites (HSs; 5'HS1-5'HS7 in the entire region, 5'HS1-5'HS5 in the LCR), some of which possess enhancer activity in erythroid cells and/or function in synergy (e.g., the 5'HS2 and 5'HS3 enhancers). The HSs bind to erythroid transcription factors and are associated with regulatory complexes involved in beta-globin gene expression and the organization of local chromatin domain structure. This region also includes matrix attachment regions (MARs), silencers, an enhancer-blocking element (at 5'HS5), a DNA-RNA triplex-forming region (at 5'HS2) that reduces beta-globin gene expression, and a retroviral element (ERV-9) with enhancer activity in erythrocytes. Chromosome conformation capture assays show that the LCR is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with distal 5' and 3' HSs (HS-111 and 3'HS1) and the active beta-globin gene promoters. A larger region that includes 5'HS2-5'HS5 of the LCR plus an additional 27 kb may regulate replication initiation at a replication origin (IR) in the vicinity of the adult beta-globin (HBB) gene. Mutations in this LCR result in beta-thalassemias and beta-hemoglobinopathies. A large naturally-occurring deletion, which includes the sequence spanning 5'HS2-5'HS7, results in Hispanic gamma-delta-beta thalassemia and a closed chromatin conformation across the beta-globin locus. [provided by RefSeq, Dec 2019]

GeneCards Summary for HBB-LCR Gene

HBB-LCR (Beta-Globin Locus Control Region) is a Biological Region gene. Diseases associated with HBB-LCR include Beta-Thalassemia and Thalassemia.

Additional gene information for HBB-LCR Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HBB-LCR Gene

Genomics for HBB-LCR Gene

Genomic Locations for HBB-LCR Gene

Genomic Locations for HBB-LCR Gene
chr11:5,269,925-5,304,186
(GRCh38/hg38)
Size:
34,262 bases
Orientation:
Plus strand

Genomic View for HBB-LCR Gene

Genes around HBB-LCR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBB-LCR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBB-LCR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBB-LCR Gene

No data available for GeneHancer (GH) Regulatory Elements for HBB-LCR Gene

Proteins for HBB-LCR Gene

Post-translational modifications for HBB-LCR Gene

No Post-translational modifications

No data available for DME Specific Peptides for HBB-LCR Gene

Domains & Families for HBB-LCR Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HBB-LCR Gene

Function for HBB-LCR Gene

Human Phenotype Ontology for HBB-LCR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HBB-LCR Gene

Localization for HBB-LCR Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for HBB-LCR Gene

Pathways & Interactions for HBB-LCR Gene

PathCards logo

SuperPathways for HBB-LCR Gene

No Data Available

Gene Ontology (GO) - Biological Process for HBB-LCR Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for HBB-LCR Gene

Drugs & Compounds for HBB-LCR Gene

No Compound Related Data Available

Transcripts for HBB-LCR Gene

mRNA/cDNA for HBB-LCR Gene

1 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for HBB-LCR Gene

No ASD Table

Relevant External Links for HBB-LCR Gene

GeneLoc Exon Structure for
HBB-LCR

Expression for HBB-LCR Gene

Phenotype-based relationships between genes and organs from Gene ORGANizer for HBB-LCR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for HBB-LCR Gene

Orthologs for HBB-LCR Gene

No data available for Orthologs and Evolution for HBB-LCR Gene

Paralogs for HBB-LCR Gene

No data available for Paralogs for HBB-LCR Gene

Variants for HBB-LCR Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for HBB-LCR Gene

Disorders for HBB-LCR Gene

MalaCards: The human disease database

(3) MalaCards diseases for HBB-LCR Gene - From: OMIM, GTR, and GeneCards

Disorder Aliases PubMed IDs
beta-thalassemia
  • thalassemia, beta
thalassemia
  • sickle-cell thalassemia with crisis
diamond-blackfan anemia
  • diamond-blackfan anemia 1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with HBB-LCR: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for HBB-LCR Gene

Publications for HBB-LCR Gene

  1. DNA·RNA triple helix formation can function as a cis-acting regulatory mechanism at the human β-globin locus. (PMID: 30867287) Zhou Z … Felsenfeld G (Proceedings of the National Academy of Sciences of the United States of America 2019) 3
  2. Heterochromatin Protein 1γ Is a Novel Epigenetic Repressor of Human Embryonic ϵ-Globin Gene Expression. (PMID: 28154185) Wang Y … Zhao Q (The Journal of biological chemistry 2017) 3
  3. Erythroid specific activator GATA-1-dependent interactions between CTCF sites around the β-globin locus. (PMID: 28161276) Kang Y … Kim A (Biochimica et biophysica acta. Gene regulatory mechanisms 2017) 3
  4. Epigenetic interplay at the β-globin locus. (PMID: 28161275) Lee WS … Vadolas J (Biochimica et biophysica acta. Gene regulatory mechanisms 2017) 3
  5. LDB1-mediated enhancer looping can be established independent of mediator and cohesin. (PMID: 28520978) Krivega I … Dean A (Nucleic acids research 2017) 3

No data available for Mastermind for HBB-LCR Gene

Products for HBB-LCR Gene

Sources for HBB-LCR Gene