Seroatlas · Human Serome Atlas

BCL11A

BCL11 transcription factor A

Also known as: BC11A_HUMAN, BCL11A-L, BCL11A-S, BCL11A-XL, CTIP1, EVI9, HBFQTL5, SMARCM1, ZNF856

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H165
Gene: BCL11A
Ensembl: ENSG00000119866
Chromosome: 2
Canonical length: 835 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nuclear bodies
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

835 residues, UniProt reviewed canonical sequence.

>Q9H165|BCL11A
     1  MSRRKQGKPQ HLSKREFSPE PLEAILTDDE PDHGPLGAPE GDHDLLTCGQ CQMNFPLGDI
    61  LIFIEHKRKQ CNGSLCLEKA VDKPPSPSPI EMKKASNPVE VGIQVTPEDD DCLSTSSRGI
   121  CPKQEHIADK LLHWRGLSSP RSAHGALIPT PGMSAEYAPQ GICKDEPSSY TCTTCKQPFT
   181  SAWFLLQHAQ NTHGLRIYLE SEHGSPLTPR VGIPSGLGAE CPSQPPLHGI HIADNNPFNL
   241  LRIPGSVSRE ASGLAEGRFP PTPPLFSPPP RHHLDPHRIE RLGAEEMALA THHPSAFDRV
   301  LRLNPMAMEP PAMDFSRRLR ELAGNTSSPP LSPGRPSPMQ RLLQPFQPGS KPPFLATPPL
   361  PPLQSAPPPS QPPVKSKSCE FCGKTFKFQS NLVVHRRSHT GEKPYKCNLC DHACTQASKL
   421  KRHMKTHMHK SSPMTVKSDD GLSTASSPEP GTSDLVGSAS SALKSVVAKF KSENDPNLIP
   481  ENGDEEEEED DEEEEEEEEE EEEELTESER VDYGFGLSLE AARHHENSSR GAVVGVGDES
   541  RALPDVMQGM VLSSMQHFSE AFHQVLGEKH KRGHLAEAEG HRDTCDEDSV AGESDRIDDG
   601  TVNGRGCSPG ESASGGLSKK LLLGSPSSLS PFSKRIKLEK EFDLPPAAMP NTENVYSQWL
   661  AGYAASRQLK DPFLSFGDSR QSPFASSSEH SSENGSLRFS TPPGELDGGI SGRSGTGSGG
   721  STPHISGPGP GRPSSKEGRR SDTCEYCGKV FKNCSNLTVH RRSHTGERPY KCELCNYACA
   781  QSSKLTRHMK THGQVGKDVY KCEICKMPFS VYSTLEKHMK KWHSDRVLNN DIKTE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BCL11A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.64
Highest tissue expression: 49 nTPM

Expression across tissuesHPA

Tissue

hippocampal formation: 49 nTPM
cerebral cortex: 48 nTPM
skin: 45 nTPM
basal ganglia: 42 nTPM
tonsil: 38 nTPM
thymus: 32 nTPM

Single-cell type

pdcs: 879 nCPM
b-cells: 441 nCPM
hematopoietic stem cells: 301 nCPM
thymocytes: 211 nCPM
medullary thymic epithelial cells: 187 nCPM
cdc: 181 nCPM

Immune cell

plasmacytoid DC: 902 nTPM
naive B-cell: 418 nTPM
memory B-cell: 314 nTPM
myeloid DC: 90 nTPM
intermediate monocyte: 44 nTPM
non-classical monocyte: 34 nTPM

Brain region

cerebral cortex: 82 nTPM
white matter: 65 nTPM
hippocampal formation: 63 nTPM
basal ganglia: 53 nTPM
pons: 51 nTPM
medulla oblongata: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BCL11A.

Disease | AllUniProt

Conditions BCL11A is implicated in, by any mechanism.

Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) MIM:617101

Disease | GeneticClinVar

94 pathogenic / likely-pathogenic of 332 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Dias-Logan syndrome
Inborn genetic diseases
Intellectual disability
Neurodevelopmental delay
BCL11A-related BAFopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.32
gnomAD pLI: 0.97
gnomAD missense Z: 3.84
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BCL11A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BCL11A as an antibody target. Whether an autoantibody or antibody against BCL11A could matter depends on whether native BCL11A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BCL11A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BCL11A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...