Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ALS23, 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.
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005509 Function Calcium ion binding IBA 21873635
GO:0005515 Function Protein binding IPI 9268363, 12445460, 15197175, 18256029, 25910212, 31515488, 32296183
GO:0005544 Function Calcium-dependent phospholipid binding IEA
GO:0005635 Component Nuclear envelope IDA 12601007, 15197175
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602572 535 ENSG00000122359
Protein
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, AMYOTROPHIC LATERAL SCLEROSIS 23, Amyotrophic lateral sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
28469040, 29845112
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 23202125
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 23144326 ClinVar
Mental depression Depressive disorder ClinVar
Sarcoidosis Sarcoidosis 22936702, 19165924 ClinVar, GWAS
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis type 23, amyotrophic lateral sclerosis GenCC
Associations from Text Mining
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