Human Gene BCL11A (uc010ypj.2)
  Description: Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 2, mRNA.
RefSeq Summary (NM_022893): This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr2:60,678,302-60,780,633 Size: 102,332 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr2:60,679,700-60,780,405 Size: 100,706 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:60,678,302-60,780,633)mRNA (may differ from genome)Protein (793 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F5H2Y4_HUMAN
DESCRIPTION: SubName: Full=B-cell lymphoma/leukemia 11A;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BCL11A
CDC HuGE Published Literature: BCL11A
Positive Disease Associations: Attention Deficit Disorder with Hyperactivity , Beta thalassemia/hemoglobin E disease , Bipolar Disorder , F-cell distribution , Fetal Hemoglobin , fetal hemoglobin levels , mean corpuscular volume , Nonalcoholic Fatty Liver Disease
Related Studies:
  1. Attention Deficit Disorder with Hyperactivity
    Anke Hinney et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2011, Genome-wide association study in German patients with attention deficit/hyperactivity disorder., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic. [PubMed 22012869]
  2. Beta thalassemia/hemoglobin E disease
    Nuinoon ,et al. 2009, A genome-wide association identified the common genetic variants influence disease severity in beta(0)-thalassemia/hemoglobin E, Human genetics 2009 . [PubMed 19924444]
  3. Bipolar Disorder
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: BCL11A
Diseases sorted by gene-association score: dias-logan syndrome* (1300), sickle cell anemia (19), lymphoma (16), sickle cell disease (12), thalassemia (12), hereditary persistence of fetal hemoglobin-sickle cell disease syndrome* (11), gray zone lymphoma (9), mediastinal malignant lymphoma (7), chromosome 2p16.1-p15 deletion syndrome (7), alpha thalassemia-intellectual disability syndrome type 1 (7), mediastinal gray zone lymphoma (6), composite lymphoma (5), hypersomnia (5), thalassemia, hispanic gamma-delta-beta (4), intellectual disability (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.54 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 76.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.52228-0.235 Picture PostScript Text
3' UTR -383.761398-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on F5H2Y4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AJ404612 - Homo sapiens mRNA for B-cell lymphoma/leukaemia 11A long form (BCL11A-L gene).
AJ404613 - Homo sapiens mRNA for B-cell lymphoma/leukaemia 11A short form (BCL11A-S gene).
AF080216 - Homo sapiens C2H2-type zinc-finger protein mRNA, complete cds.
BC021098 - Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein), mRNA (cDNA clone MGC:31810 IMAGE:5087967), complete cds.
AB058712 - Homo sapiens KIAA1809 mRNA for KIAA1809 protein.
AK055251 - Homo sapiens cDNA FLJ30689 fis, clone FCBBF2000566, highly similar to B-cell lymphoma/leukemia 11A.
AK297507 - Homo sapiens cDNA FLJ58516 complete cds, highly similar to B-cell lymphoma/leukemia 11A.
AK300012 - Homo sapiens cDNA FLJ57865 complete cds, highly similar to B-cell lymphoma/leukemia 11A.
JN852960 - Homo sapiens BCL11a-M (BCL11A) mRNA, partial cds, alternatively spliced.
AB384297 - Synthetic construct DNA, clone: pF1KSDA1809, Homo sapiens BCL11A gene for B-cell lymphoma/leukemia 11A, complete cds, without stop codon, in Flexi system.
EU446622 - Synthetic construct Homo sapiens clone IMAGE:100070203; IMAGE:100011831; FLH258223.01L B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A) gene, encodes complete protein.
EU446808 - Synthetic construct Homo sapiens clone IMAGE:100070306; IMAGE:100012017; FLH262799.01L B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A) gene, encodes complete protein.
AJ404611 - Homo sapiens mRNA for B-cell lymphoma/leukaemia 11A extra long form (BCL11A-XL gene).
AK001035 - Homo sapiens cDNA FLJ10173 fis, clone HEMBA1003953.
JD312467 - Sequence 293491 from Patent EP1572962.
JD286971 - Sequence 267995 from Patent EP1572962.
JD166491 - Sequence 147515 from Patent EP1572962.
JD305359 - Sequence 286383 from Patent EP1572962.
JD535190 - Sequence 516214 from Patent EP1572962.
JD180653 - Sequence 161677 from Patent EP1572962.
JD043020 - Sequence 24044 from Patent EP1572962.
JD236225 - Sequence 217249 from Patent EP1572962.
JD564131 - Sequence 545155 from Patent EP1572962.
JD358804 - Sequence 339828 from Patent EP1572962.
JD434211 - Sequence 415235 from Patent EP1572962.
AK092316 - Homo sapiens cDNA FLJ34997 fis, clone OCBBF2011625, highly similar to B-cell lymphoma/leukemia 11A.
AX747478 - Sequence 1003 from Patent EP1308459.
AY228763 - Homo sapiens B-cell CLL/lymphoma 11A isoform 6 (BCL11A) mRNA, complete cds.
CU676818 - Synthetic construct Homo sapiens gateway clone IMAGE:100021976 5' read BCL11A mRNA.
AY692278 - Homo sapiens B-cell lymphoma/leukaemia 11A extra-short form (BCL11A) mRNA, complete cds, alternatively spliced.
JD458488 - Sequence 439512 from Patent EP1572962.
JD271292 - Sequence 252316 from Patent EP1572962.
JD458514 - Sequence 439538 from Patent EP1572962.
JD458513 - Sequence 439537 from Patent EP1572962.
JD056229 - Sequence 37253 from Patent EP1572962.
JD458511 - Sequence 439535 from Patent EP1572962.
JD458512 - Sequence 439536 from Patent EP1572962.
JD271291 - Sequence 252315 from Patent EP1572962.
JD458510 - Sequence 439534 from Patent EP1572962.
JD406055 - Sequence 387079 from Patent EP1572962.
JD057274 - Sequence 38298 from Patent EP1572962.
JD406801 - Sequence 387825 from Patent EP1572962.
JD461601 - Sequence 442625 from Patent EP1572962.
JD056228 - Sequence 37252 from Patent EP1572962.
JD458352 - Sequence 439376 from Patent EP1572962.
JD258038 - Sequence 239062 from Patent EP1572962.
JD377121 - Sequence 358145 from Patent EP1572962.
JD465208 - Sequence 446232 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK297507, F5H2Y4, F5H2Y4_HUMAN, NM_022893, NP_075044
UCSC ID: uc010ypj.2
RefSeq Accession: NM_022893
Protein: F5H2Y4

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene BCL11A:
bcl11a-id (BCL11A-Related Intellectual Disability)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK297507.1
exon count: 4CDS single in 3' UTR: no RNA size: 2665
ORF size: 2382CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 3813.50frame shift in genome: no % Coverage: 99.96
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.