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ANXA11 (annexin A11)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
311
Gene nameGene Name - the full gene name approved by the HGNC.
Annexin A11
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ANXA11
SynonymsGene synonyms aliases
ALS23, ANX11, CAP-50, CAP50
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.3
SummarySummary 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 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]
SNPsSNP 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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003084 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR, Microarray 19296470
MIRT017220 hsa-miR-335-5p Microarray 18185580
MIRT022375 hsa-miR-124-3p Microarray 18668037
MIRT025684 hsa-miR-7-5p Microarray 19073608
MIRT035979 hsa-miR-1301-3p CLASH 23622248
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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.
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Amyotrophic lateral sclerosis  
Associated diseases
Causal
Disease name Disease term 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, rs80356731, rs80356726, rs-1, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 28469040, 29845112
Sarcoidosis Sarcoidosis rs2076530, rs-1 22936702, 19165924
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 23202125
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs-1 23144326
Unknown
Disease name Disease term dbSNP ID References
Mental depression Depressive disorder rs587778876, rs587778877
Anxiety disorder Anxiety
Laryngospasm Laryngospasm
Mood swings Mood swings

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