ANXA11 Chromosome 10
Annexin A11
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What This Gene Does
This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Annexins
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000122359
Associated Conditions (6)
ANXA11-related disorder
Inborn genetic diseases
Amyotrophic lateral sclerosis type 23
Oculopharyngeal muscular dystrophy 1
Amyotrophic lateral sclerosis
Inclusion body myopathy and brain white matter abnormalities
Key Variants
RS139232844
Conflicting classifications of pathogenicity
ANXA11-related disorder, Inborn genetic diseases, ANXA11-related disorder
Health Risk
RS140133265
Conflicting classifications of pathogenicity
ANXA11-related disorder, Amyotrophic lateral sclerosis type 23, ANXA11-related disorder
Health Risk
RS771435989
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1247392012
Pathogenic
Amyotrophic lateral sclerosis type 23, ANXA11-related disorder, Amyotrophic lateral sclerosis type 23
Health Risk
RS2492172951
Pathogenic
Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy 1
Health Risk
RS142083484
Pathogenic/Likely pathogenic
Amyotrophic lateral sclerosis type 23, Amyotrophic lateral sclerosis, ANXA11-related disorder
Health Risk
RS368751524
Pathogenic/Likely pathogenic
Amyotrophic lateral sclerosis type 23, Inclusion body myopathy and brain white matter abnormalities, Amyotrophic lateral sclerosis type 23
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139232844 | Health Risk | Conflicting classifications of pathogenicity | ANXA11-related disorder, Inborn genetic diseases, ANXA11-related disorder |
| RS140133265 | Health Risk | Conflicting classifications of pathogenicity | ANXA11-related disorder, Amyotrophic lateral sclerosis type 23, ANXA11-related disorder |
| RS771435989 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1247392012 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 23, ANXA11-related disorder, Amyotrophic lateral sclerosis type 23 |
| RS2492172951 | Health Risk | Pathogenic | Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy 1 |
| RS142083484 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 23, Amyotrophic lateral sclerosis, ANXA11-related disorder |
| RS368751524 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 23, Inclusion body myopathy and brain white matter abnormalities, Amyotrophic lateral sclerosis type 23 |