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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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C11orf21
chromosome 11 open reading frame 21
Chromosome 11 · 11p15.5
NCBI Gene: 29125Ensembl: ENSG00000110665.12HGNC: HGNC:13231UniProt: E9PAM5
7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
cytoplasmlymphoid leukemiachronic lymphocytic leukemialymphoid neoplasmthyroid disease
✦AI Summary

C11orf21 is a gene located in the imprinted domain of chromosome 11.5 that encodes a 132-amino acid cytoplasmic protein 1. The gene shows tissue-restricted expression, being predominantly expressed in human heart 1, and displays biallelic (non-imprinted) expression patterns 1. Functionally, C11orf21 is a transcriptional target of RUNX1, a critical transcription factor in hematopoiesis 2. In t(8;21) acute myeloid leukemia, the oncogenic RUNX1-ETO fusion protein suppresses C11orf21 transcription through direct promoter binding, suggesting that C11orf21 depletion may contribute to leukemogenesis 2. Beyond hematologic malignancies, C11orf21 variants are associated with chr11 lymphocytic leukemia susceptibility in genome-wide association studies 3. Epigenetically, C11orf21/TSPAN32 shows differential methylation patterns in autism spectrum disorder, with hypomethylated CpGs identified in autistic brain tissue 4, and has been repeatedly identified as an epigenetic marker in autism 5. The gene's location within the Beckwith-Wiedemann syndrome region on 11p15.5 suggests potential involvement in genomic imprinting disorders 1. Overall, C11orf21 appears to play roles in leukemogenesis, neurodevelopmental function, and possibly imprinting-related diseases.

Sources cited
1
C11orf21 is located in chromosome 11p15.5, encodes a 132-amino acid cytoplasmic protein, is predominantly expressed in heart tissue, and shows biallelic (non-imprinted) expression despite its location in an imprinted domain
PMID: 11054561
2
C11orf21 is a transcriptional target of RUNX1 that is suppressed by the RUNX1-ETO fusion protein in t(8;21) AML through direct promoter binding
PMID: 37082605
3
C11orf21 variants at 11p15.5 are associated with chronic lymphocytic leukemia susceptibility in genome-wide association studies
PMID: 23770605
4
C11orf21/TSPAN32 locus shows multiple hypomethylated CpGs in autistic brain tissue, suggesting epigenetic dysregulation in autism spectrum disorder
PMID: 25180572
5
C11orf21/TSPAN32 has been repeatedly identified as a differential epigenetic marker in autism spectrum disorder across multiple independent analyses
PMID: 30067938
Disease Associationsⓘ20
lymphoid leukemiaOpen Targets
0.45Moderate
chronic lymphocytic leukemiaOpen Targets
0.43Moderate
lymphoid neoplasmOpen Targets
0.36Weak
thyroid diseaseOpen Targets
0.33Weak
response to statinOpen Targets
0.25Weak
type 2 diabetes mellitusOpen Targets
0.22Weak
diabetes mellitusOpen Targets
0.21Weak
heart valve diseaseOpen Targets
0.04Suggestive
systemic sclerodermaOpen Targets
0.04Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
tuberculosisOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.01Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
Beckwith-Wiedemann syndromeOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
meningococcal infectionOpen Targets
0.00Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
ulcerative colitisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TSPAN32Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
54%
Lung
15%
Liver
3%
Brain
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
C11orf21TSPAN32
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9P2W6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.31 [0.91–1.83]
RankingsWhere C11orf21 stands among ~20K protein-coding genes
  • #17,783of 20,598
    Most Researched7
  • #16,710of 17,882
    Most Constrained (LOEUF)1.83
Genes detectedC11orf21
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
C11orf21, a novel gene within the Beckwith-Wiedemann syndrome region in human chromosome 11p15.5.
PMID: 11054561
Gene · 2000
1.00
2
The role of epigenetic modifications in neurodevelopmental disorders: A systematic review.
PMID: 30067938
Neurosci Biobehav Rev · 2018
0.83
3
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
PMID: 23770605
Nat Genet · 2013
0.67
4
PMID: 37082605
BBA Adv · 2022
0.50
5
DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways.
PMID: 25180572
Transl Psychiatry · 2014
0.33