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    ANXA11 annexin A11 [ Homo sapiens (human) ]

    Gene ID: 311, updated on 5-May-2024

    Summary

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    Official Symbol
    ANXA11provided by HGNC
    Official Full Name
    annexin A11provided by HGNC
    Primary source
    HGNC:HGNC:535
    See related
    Ensembl:ENSG00000122359 MIM:602572; AllianceGenome:HGNC:535
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALS23; ANX11; CAP50; CAP-50; IBMWMA
    Summary
    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]
    Expression
    Ubiquitous expression in esophagus (RPKM 36.2), heart (RPKM 32.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q22.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80150889..80205808, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (81020012..81074920, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81910645..81965564, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L22 pseudogene 18 Neighboring gene placenta associated 9 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:81917938-81919137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81928334-81928862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2543 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:81931132-81932057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81936179-81936680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81936681-81937180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81937700-81938200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:81945900-81946400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81954116-81954792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81954793-81955468 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:81955517-81956716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2544 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:81966703-81967902 Neighboring gene long intergenic non-protein coding RNA 857 Neighboring gene ribosomal protein S12 pseudogene 2 Neighboring gene uncharacterized LOC124902470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3652

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants. Natera-de Benito D, et al. Ann Clin Transl Neurol, 2023 Mar. PMID 36651622, Free PMC Article
    2. Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis. Jiang Q, et al. Neurobiol Dis, 2022 Dec. PMID 36280108
    3. Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11. Johari M, et al. Ann Clin Transl Neurol, 2022 Oct. PMID 36134701, Free PMC Article
    4. ANXA11 rs1049550 Associates with Löfgren's Syndrome and Chronic Sarcoidosis Patients. Karakaya B, et al. Cells, 2022 May 5. PMID 35563867, Free PMC Article
    5. ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism. Darvish H, et al. Ann Neurol, 2021 Aug. PMID 34180078

    See all (117) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircSOD2 Contributes to Tumor Progression, Immune Evasion and Anti-PD-1 Resistance in Hepatocellular Carcinoma by Targeting miR-497-5p/ANXA11 Axis.
      Title: CircSOD2 Contributes to Tumor Progression, Immune Evasion and Anti-PD-1 Resistance in Hepatocellular Carcinoma by Targeting miR-497-5p/ANXA11 Axis.
    2. Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
      Title: Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
    3. Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis.
      Title: Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis.
    4. Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
      Title: Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
    5. ANXA11 rs1049550 Associates with Lofgren's Syndrome and Chronic Sarcoidosis Patients.
      Title: ANXA11 rs1049550 Associates with Löfgren's Syndrome and Chronic Sarcoidosis Patients.
    6. Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.
      Title: Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.
    7. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
      Title: A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
    8. ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
      Title: ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
    9. Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
      Title: Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
    10. ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.
      Title: ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.
    Submit: New GeneRIF Correction See all GeneRIFs (40)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
    EBI GWAS Catalog
    Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MHC class II protein complex binding HDA PubMed 
    enables RNA binding HDA PubMed 
    enables S100 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatidylethanolamine binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytokinetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytokinetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phagocytosis IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to calcium ion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in specific granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    annexin A11
    Names
    56 kDa autoantigen
    annexin XI
    annexin-11
    calcyclin-associated annexin 50
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001157.3 → NP_001148.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_001148.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the shortest transcript. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AL356095, AL513174
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      B4DVE7, P50995
      UniProtKB/TrEMBL
      Q5T0G8, Q6ICS0
      Related
      ENSP00000361305.3, ENST00000372231.7
      Conserved Domains (2) summary
      PHA03378
      Location:75 → 194
      PHA03378; EBNA-3B; Provisional
      pfam00191
      Location:204 → 269
      Annexin

    2. NM_001278407.2 → NP_001265336.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_001265336.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) differs in the 5' UTR compared to variant a. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AJ278463, AK056107, AL356095, AL513174, DA558997
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      B4DVE7, P50995
      UniProtKB/TrEMBL
      Q5T0G8, Q6ICS0
      Conserved Domains (2) summary
      PHA03378
      Location:75 → 194
      PHA03378; EBNA-3B; Provisional
      pfam00191
      Location:204 → 269
      Annexin

    3. NM_001278408.2 → NP_001265337.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_001265337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) differs in the 5' UTR compared to variant a. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AJ278463, AK126287, AL356095, AL513174, BC007564
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      B4DVE7, P50995
      UniProtKB/TrEMBL
      Q5T0G8, Q6ICS0
      Conserved Domains (2) summary
      PHA03378
      Location:75 → 194
      PHA03378; EBNA-3B; Provisional
      pfam00191
      Location:204 → 269
      Annexin

    4. NM_001278409.2 → NP_001265338.1  annexin A11 isoform 2

      See identical proteins and their annotated locations for NP_001265338.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) contains an alternate exon compared to variant 1. This difference results in a distinct 5' UTR and causes translation initiation at a downstream start codon, compared to variant a. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AJ278463, AK301047, AL356095, AL513174
      Consensus CDS
      CCDS60576.1
      UniProtKB/TrEMBL
      Q6ICS0
      Related
      ENSP00000265447.5, ENST00000265447.8
      Conserved Domains (2) summary
      pfam00191
      Location:171 → 236
      Annexin; Annexin
      cl27975
      Location:42 → 161
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)

    5. NM_145868.2 → NP_665875.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_665875.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) differs in the 5' UTR compared to variant a. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AL356095, AL513174
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      B4DVE7, P50995
      UniProtKB/TrEMBL
      Q5T0G8, Q6ICS0
      Related
      ENSP00000404412.2, ENST00000422982.8
      Conserved Domains (2) summary
      PHA03378
      Location:75 → 194
      PHA03378; EBNA-3B; Provisional
      pfam00191
      Location:204 → 269
      Annexin

    6. NM_145869.2 → NP_665876.1  annexin A11 isoform 1

      See identical proteins and their annotated locations for NP_665876.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) differs in the 5' UTR compared to variant a. Variants a, b, c, d, and e all encode the same isoform (1).
      Source sequence(s)
      AL356095, AL513174
      Consensus CDS
      CCDS7364.1
      UniProtKB/Swiss-Prot
      B4DVE7, P50995
      UniProtKB/TrEMBL
      Q5T0G8, Q6ICS0
      Related
      ENSP00000398610.1, ENST00000438331.5
      Conserved Domains (2) summary
      PHA03378
      Location:75 → 194
      PHA03378; EBNA-3B; Provisional
      pfam00191
      Location:204 → 269
      Annexin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      80150889..80205808 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269741.5 → XP_005269798.1  annexin A11 isoform X1

      UniProtKB/TrEMBL
      B7Z6L0
      Conserved Domains (1) summary
      pfam00191
      Location:304 → 369
      Annexin; Annexin

    2. XM_005269742.2 → XP_005269799.1  annexin A11 isoform X2

      See identical proteins and their annotated locations for XP_005269799.1

      UniProtKB/TrEMBL
      Q6ICS0
      Conserved Domains (1) summary
      pfam00191
      Location:204 → 269
      Annexin; Annexin

    3. XM_006717813.3 → XP_006717876.1  annexin A11 isoform X2

      See identical proteins and their annotated locations for XP_006717876.1

      UniProtKB/TrEMBL
      Q6ICS0
      Conserved Domains (1) summary
      pfam00191
      Location:204 → 269
      Annexin; Annexin

    4. XM_047425140.1 → XP_047281096.1  annexin A11 isoform X2

    5. XM_047425141.1 → XP_047281097.1  annexin A11 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      81020012..81074920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365695.1 → XP_054221670.1  annexin A11 isoform X3

      UniProtKB/Swiss-Prot
      B4DVE7, P50995
      UniProtKB/TrEMBL
      Q5T0G8

    2. XM_054365690.1 → XP_054221665.1  annexin A11 isoform X1

    3. XM_054365692.1 → XP_054221667.1  annexin A11 isoform X2

    4. XM_054365693.1 → XP_054221668.1  annexin A11 isoform X2

    5. XM_054365691.1 → XP_054221666.1  annexin A11 isoform X2

    6. XM_054365694.1 → XP_054221669.1  annexin A11 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50995.1 GenPept UniProtKB/Swiss-Prot:P50995

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