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.
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Annexin A11 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ANXA11 |
SynonymsGene synonyms aliases
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ALS23, ANX11, CAP-50, CAP50 |
ChromosomeChromosome number
|
10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q22.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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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 |
GO:0005635 |
Component |
Nuclear envelope |
NAS |
12577318 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
7508441, 12601007, 15197175 |
GO:0005654 |
Component |
Nucleoplasm |
NAS |
12577318 |
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
7508441, 12601007, 12805373 |
GO:0005819 |
Component |
Spindle |
IDA |
12805373, 15197175 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0006909 |
Process |
Phagocytosis |
IBA |
21873635 |
GO:0006909 |
Process |
Phagocytosis |
IEP |
9188810 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0023026 |
Function |
MHC class II protein complex binding |
HDA |
20458337 |
GO:0030496 |
Component |
Midbody |
IDA |
15197175 |
GO:0032506 |
Process |
Cytokinetic process |
IBA |
21873635 |
GO:0032506 |
Process |
Cytokinetic process |
IMP |
15197175 |
GO:0042470 |
Component |
Melanosome |
IEA |
|
GO:0042581 |
Component |
Specific granule |
IDA |
9188810 |
GO:0042582 |
Component |
Azurophil granule |
IDA |
9188810 |
GO:0044548 |
Function |
S100 protein binding |
IPI |
12577318, 19724273 |
GO:0045335 |
Component |
Phagocytic vesicle |
IDA |
9188810 |
GO:0048306 |
Function |
Calcium-dependent protein binding |
IPI |
11883939, 12445460 |
GO:0051592 |
Process |
Response to calcium ion |
IDA |
9188810, 12601007 |
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
HDA |
25037231, 28344315 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867, 20458337, 23533145 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
|
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.
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Associated diseases
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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 |
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Laryngospasm |
Laryngospasm |
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Mood swings |
Mood swings |
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Respiratory failure |
Respiratory Failure |
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