ANXA11 (annexin A11)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
311
Gene name Gene Name - the full gene name approved by the HGNC.
Annexin A11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANXA11
Synonyms (NCBI Gene) Gene synonyms aliases
ALS23, ANX11, CAP-50, CAP50, IBMWMA
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs142083484 C>T Pathogenic Missense variant, coding sequence variant
rs368751524 C>A,G Likely-pathogenic Coding sequence variant, missense variant
rs754594235 C>A,T Pathogenic Coding sequence variant, missense variant
rs1247392012 T>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(192)
miRTarBase ID miRNA Experiments Reference
MIRT003084 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT017220 hsa-miR-335-5p Microarray 18185580
MIRT022375 hsa-miR-124-3p Microarray 18668037
MIRT003084 hsa-miR-122-5p Microarray 19296470
MIRT025684 hsa-miR-7-5p Microarray 19073608
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(41)
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IBA
GO:0003723 Function RNA binding HDA 22681889
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 9268363, 12445460, 15197175, 25910212, 31515488, 32296183
GO:0005544 Function Calcium-dependent phospholipid binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602572 535 ENSG00000122359
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P50995
Protein name Annexin A11 (56 kDa autoantigen) (Annexin XI) (Annexin-11) (Calcyclin-associated annexin 50) (CAP-50)
Protein function Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis.
PDB 9FOF , 9FOR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00191 Annexin 204 → 269 Annexin Family
PF00191 Annexin 276 → 341 Annexin Family
PF00191 Annexin 359 → 425 Annexin Family
PF00191 Annexin 435 → 500 Annexin Family
Sequence 
MSYPGYPPPPGGYPPAAPGGGPWGGAAYPPPPSMPPIGLDNVATYAGQFNQDYLSGMAAN
MSGTFGGANMPNLYPGAPGAGYPPVPPGGFGQPPSAQQPVPPYGMYPPPGGNPPSRMPSY
PPYPGAPVPGQPMPPPGQQPPGAYPGQPPVTYPGQPPVPLPGQQQPVPSYPGYPGSGTVT
PAVPPTQFGSRGTITDAPGFDPLRDAEVLRKAMKGFGTDEQAIIDCLGSRSNKQRQQILL
SFKTAYGKDLIKDLKSELSGNFEKTILALMKTPVLFDIYEIKEAIKGVGTDEACLIEILA
SRSNEHIRELNRAYKAEFKKTLEEAIRSDTSGHFQRLLISLSQGNRDESTNVDMSLAQRD
AQELYAAGENRLGTDESKFNAVLCSRSRAHLVAVFNEYQRMTGRDIEKSICREMSGDLEE
GMLAVVKCLKNTPAFFAERLNKAMRGAGTKDRTLIRIMVSRSETDLLDIRSEYKRMYGKS
LYHDISGDTSGDYRKILLKICGGND
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Amyotrophic lateral sclerosis  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis type 23, amyotrophic lateral sclerosis rs1247392012, rs142083484, rs368751524 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Myopathy inclusion body myopathy and brain white matter abnormalities N/A N/A GenCC
Sarcoidosis Sarcoidosis N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 28469040, 33610019, 35525134, 36134701, 36651622
Asthma Associate 35606283
Colorectal Neoplasms Associate 23579219, 31308487
Frontotemporal Dementia Associate 40713859
Inclusion Body Myopathy With Early Onset Paget Disease And Frontotemporal Dementia Associate 36134701, 36651622
Leukemia Myeloid Acute Associate 35463978
Lymphatic Metastasis Stimulate 29306955
Meningeal Neoplasms Stimulate 27399113
Muscular Diseases Associate 36134701, 36651622
Muscular Dystrophies Associate 36134701, 36651622