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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ANXA11
annexin A11
Chromosome 10 Β· 10q22.3
NCBI Gene: 311Ensembl: ENSG00000122359.19HGNC: HGNC:535UniProt: P50995
140PubMed Papers
22Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membranemidbodyextracellular matrixazurophil granuleamyotrophic lateral sclerosisinclusion body myopathy and brain white matter abnormalitiessarcoidosisankylosing spondylitis
✦AI Summary

ANXA11 (Annexin A11) is a calcium-dependent phospholipid-binding protein with critical roles in neuronal function and disease pathogenesis 1. Mechanistically, ANXA11 functions as a molecular tether linking RNA granules to lysosomes via its N-terminal low complexity domain and C-terminal membrane-binding domain, enabling long-distance RNA transport essential for neuronal protein synthesis 2. This transport function is critical for maintaining proper spatial organization in polarized neurons. ANXA11 has emerged as a central player in neurodegenerative diseases, particularly through its interactions with TDP-43. In frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) type C, ANXA11 co-assembles with TDP-43 into unprecedented heteromeric amyloid filaments, with ANXA11 existing primarily as an N-terminal fragment 3. Pathogenic ANXA11 variants impair lysosomal-RNA granule trafficking and promote TDP-43 mislocalization, contributing to amyotrophic lateral sclerosis and corticobasal syndrome 24. ANXA11 aggregates appear in all FTLD-TDP type C cases and in smaller proportions of sporadic ALS and other TDP-43 proteinopathies 5. Beyond neurodegeneration, ANXA11 genetic variants modulate susceptibility to sarcoidosis and other immune-mediated diseases, with protective effects associated with specific alleles 67. These findings establish ANXA11 as a multifunctional regulator linking neuronal RNA transport, protein aggregation pathology, and immune function.

Sources cited
1
ANXA11 acts as molecular tether between RNA granules and lysosomes; impairs RNA transport when mutated in ALS
PMID: 31539493
2
ANXA11 co-assembles with TDP-43 into heteromeric amyloid filaments in FTLD-TDP type C brains
PMID: 39260416
3
ANXA11 aggregates colocalize with TDP-43 inclusions in FTLD-TDP type C, ALS, and LATE-NC cases
PMID: 38896345
4
ANXA11 P93S variant causes decreased lysosome colocalization and TDP-43 mislocalization in corticobasal syndrome
PMID: 38923692
5
ANXA11 SNP rs2573346 and rs2789679 T alleles protect against sarcoidosis; rs1049550 T allele increases risk
PMID: 27537711
6
ANXA11 rs1049550 T allele is protective for sarcoidosis including benign and chronic phenotypes
PMID: 35563867
7
ANXA11 is multifunctional protein involved in liquid-liquid phase separation, membrane dynamics, and amyloidogenesis
PMID: 41495810
Disease Associationsβ“˜22
amyotrophic lateral sclerosisOpen Targets
0.77Strong
inclusion body myopathy and brain white matter abnormalitiesOpen Targets
0.54Moderate
sarcoidosisOpen Targets
0.44Moderate
ankylosing spondylitisOpen Targets
0.35Weak
oculopharyngeal muscular dystrophy 1Open Targets
0.34Weak
immune system diseaseOpen Targets
0.31Weak
connective tissue neoplasmOpen Targets
0.28Weak
multiple sclerosisOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
spondylolisthesisOpen Targets
0.15Weak
Pick diseaseOpen Targets
0.11Weak
mild neurocognitive disorderOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
proteostasis deficienciesOpen Targets
0.08Suggestive
frontotemporal dementiaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
gliomaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
corticobasal syndromeOpen Targets
0.03Suggestive
Amyotrophic lateral sclerosis 23UniProt
Inclusion body myopathy and brain white matter abnormalitiesUniProt
Pathogenic Variants6
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)Pathogenic
Amyotrophic lateral sclerosis type 23|not provided|Amyotrophic lateral sclerosis|ANXA11-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 38
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)Pathogenic
Amyotrophic lateral sclerosis type 23|Inclusion body myopathy and brain white matter abnormalities|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 40
NM_145868.2(ANXA11):c.119A>T (p.Asp40Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 40
NM_145868.2(ANXA11):c.744+1G>APathogenic
Amyotrophic lateral sclerosis type 23
β˜…β˜†β˜†β˜†2024
NM_145868.2(ANXA11):c.118_119delinsAT (p.Asp40Ile)Pathogenic
Oculopharyngeal muscular dystrophy 1
β˜…β˜†β˜†β˜†2023β†’ Residue 40
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)Pathogenic
Amyotrophic lateral sclerosis type 23|not provided|ANXA11-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 40
View on ClinVar β†—
Related Genes
S100A6Protein interaction99%PDCD6Protein interaction89%BTNL2Protein interaction84%TFGProtein interaction70%ANXA7Protein interaction64%LTAP1Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Lung
72%
Brain
35%
Ovary
34%
Bone Marrow
33%
Liver
20%
Gene Interaction Network
Click a node to explore
ANXA11S100A6PDCD6BTNL2TFGANXA7LTAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB9FOR Β· 2.75 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.68–1.09]
RankingsWhere ANXA11 stands among ~20K protein-coding genes
  • #3,272of 20,598
    Most Researched140 Β· top quartile
  • #3,333of 5,498
    Most Pathogenic Variants6
  • #11,047of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedANXA11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether.
PMID: 31539493
Cell Β· 2019
1.00
2
The Association between ANXA11 Gene Polymorphisms and Sarcoidosis: a Meta-Analysis and systematic review.
PMID: 27537711
Sarcoidosis Vasc Diffuse Lung Dis Β· 2016
0.90
3
Heteromeric amyloid filaments of ANXA11 and TDP-43 in FTLD-TDP type C.
PMID: 39260416
Nature Β· 2024
0.80
4
Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies.
PMID: 38896345
Acta Neuropathol Β· 2024
0.70
5
Physiological and pathological roles of ANXA11: a multifunctional regulator in neurodegeneration and other disorders.
PMID: 41495810
Cell Commun Signal Β· 2026
0.60