Gene Gene information from NCBI Gene database.
Entrez ID 311
Gene name Annexin A11
Gene symbol ANXA11
Synonyms (NCBI Gene)
ALS23ANX11CAP-50CAP50IBMWMA
Chromosome 10
Chromosome location 10q22.3
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
SNPs SNP information provided by dbSNP.
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.
192
miRTarBase ID miRNA Experiments Reference
MIRT003084 hsa-miR-122-5p Luciferase reporter assayqRT-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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602572 535 ENSG00000122359
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
SFKTAYGKDLIKDLKSELSGNFEKTILAL
MKTPVLFDIYEIKEAIKGVGTDEACLIEILA
SRSNEHIRELNRAYKAEFKKTLEEAIRSDTSGHFQRLLISL
SQGNRDESTNVDMSLAQRD
AQELYAAGENRLGTDESKFNAVLCSRSRAHLVAVFNEYQRMTGRDIEKSICREMSGDLEE
GMLAV
VKCLKNTPAFFAERLNKAMRGAGTKDRTLIRIMVSRSETDLLDIRSEYKRMYGKS
LYHDISGDTSGDYRKILLKI
CGGND
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Amyotrophic lateral sclerosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amyotrophic lateral sclerosis Likely pathogenic; Pathogenic rs142083484 RCV003105971
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis type 23 Pathogenic; Likely pathogenic rs1247392012, rs142083484, rs368751524 RCV000578138
RCV000578149
RCV000988396
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANXA11-related disorder Pathogenic; Likely pathogenic rs1247392012, rs142083484 RCV003403366
RCV003962641
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inclusion body myopathy and brain white matter abnormalities Likely pathogenic; Pathogenic rs368751524 RCV001836926
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 23 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28469040, 30054183, 30337194, 31539493
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis ORPHANET_DG 28469040
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 28469040, 33610019, 35525134, 36134701, 36651622 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis HPO_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMYOTROPHIC LATERAL SCLEROSIS 23 Amyotrophic lateral sclerosis UNIPROT_DG 28469040
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 23 Amyotrophic lateral sclerosis GENOMICS_ENGLAND_DG 29845112
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 23 Amyotrophic lateral sclerosis CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 35606283 Associate
★☆☆☆☆
Found in Text Mining only