PALLD (palladin, cytoskeletal associated protein)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23022 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Palladin, cytoskeletal associated protein |
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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PALLD |
SynonymsGene synonyms aliases
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CGI-151, CGI151, MYN, PNCA1, SIH002 |
ChromosomeChromosome number
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4 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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4q32.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121908291 |
C>T |
Risk-factor, uncertain-significance, benign |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
rs139375029 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant |
rs140454899 |
A>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant |
rs587780760 |
T>G |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant, intron variant |
rs753092219 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, synonymous variant, intron 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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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q8WX93 |
Protein name |
Palladin (SIH002) (Sarcoma antigen NY-SAR-77) |
Protein function |
Cytoskeletal protein required for organization of normal actin cytoskeleton. Roles in establishing cell morphology, motility, cell adhesion and cell-extracellular matrix interactions in a variety of cell types. May function as a scaffolding molecule with the potential to influence both actin polymerization and the assembly of existing actin filaments into higher-order arrays. Binds to proteins that bind to either monomeric or filamentous actin. Localizes at sites where active actin remodeling takes place, such as lamellipodia and membrane ruffles. Different isoforms may have functional differences. Involved in the control of morphological and cytoskeletal changes associated with dendritic cell maturation. Involved in targeting ACTN to specific subcellular foci. |
PDB |
2DM2
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2DM3
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07679 |
I-set |
271 → 361 |
Immunoglobulin I-set domain |
Domain |
PF07679 |
I-set |
441 → 538 |
Immunoglobulin I-set domain |
Domain |
PF07679 |
I-set |
1001 → 1092 |
Immunoglobulin I-set domain |
Domain |
PF07679 |
I-set |
1135 → 1225 |
Immunoglobulin I-set domain |
Domain |
PF07679 |
I-set |
1234 → 1325 |
Immunoglobulin I-set domain |
Domain |
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Sequence |
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Sequence length |
1383 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Diabetes mellitus |
Diabetes Mellitus, Diabetes Mellitus, Non-Insulin-Dependent |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs-1, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 |
26915486 |
Pancreatic cancer |
Malignant neoplasm of pancreas |
rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431, rs200612497 |
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Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 |
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Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Leukemia |
Leukemia, Myelocytic, Acute |
rs-1, rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
27903959 |
Ovarian cancer |
Malignant neoplasm of ovary |
rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393 |
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Cholestasis |
Cholestasis, Extrahepatic |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
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Narcolepsy |
Narcolepsy |
rs104894574, rs387906655 |
19629137 |
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs-1, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 |
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Ovarian carcinoma |
Ovarian Carcinoma |
rs62625308, rs137886232, rs397507192, rs80357609, rs397508926, rs80357223, rs80357678, rs587779243, rs587782861, rs747539984, rs876658381 |
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Intestinal pseudoobstruction |
Intestinal Pseudo-Obstruction |
rs587776966, rs765907815 |
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Colonic neoplasms |
Malignant tumor of colon |
rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Pancreatic adenocarcinoma |
Adenocarcinoma of pancreas |
rs121908291, rs139375029, rs587780197, rs587780198, rs587780200, rs374741161, rs368806050, rs113676921, rs587780753, rs550499593, rs143544548, rs587780754, rs587780755, rs587780756, rs114593924, rs587780757, rs587780758, rs532961259, rs587780759, rs535155432, rs543821321, rs587780760, rs587780761, rs368350042, rs368890611, rs200060953, rs559000839, rs587780762, rs142116575, rs150764613, rs62333013, rs59633770, rs370602081, rs759105985, rs535118290, rs-1, rs528879194, rs863224705, rs758706279, rs780516159, rs863224383, rs863224384, rs777359545, rs863224385, rs570874237, rs863224386, rs753092219, rs769161509, rs143417961, rs140360991, rs201707558, rs863224702, rs754158038, rs863224382, rs761530979, rs780692056, rs863224703, rs114250766, rs113515140, rs863224704, rs561750970, rs864622627, rs864622590, rs864622422, rs864622140, rs730882137, rs864622087, rs864622226, rs864622591, rs864622321, rs864622158, rs864622531, rs767729090, rs749041581, rs768485147, rs864622234, rs864622355, rs864622316, rs864622388, rs764242515, rs778134231, rs771679229, rs746599370, rs551131343, rs878854264, rs878854265, rs878854266, rs878854267, rs878854268, rs376654786, rs373500403, rs114171764, rs376394488, rs61051061, rs1806729, rs548068667, rs781516286, rs1059444, rs750112132, rs7673220, rs1060502975, rs778471055, rs925242863, rs143717202, rs372414187, rs927644209, rs764265611, rs1060502976, rs554297134, rs997146277, rs1060502974, rs1060504775, rs200020758, rs1060502973, rs777453756, rs952110792, rs1553965295, rs1553973196, rs1177108180, rs1477864263, rs368472947, rs182571219, rs1553984987, rs1263751006, rs201979617, rs1358006173, rs151071844, rs115937217, rs568490721, rs189021816, rs1319983866, rs1553965480, rs1553969553, rs1385898569, rs1553965526, rs1553968628, rs763802548, rs752296365, rs1553965214, rs1474793366, rs1553965326, rs778313832, rs1318598425, rs1470434769, rs755223646, rs557697540, rs747702421, rs1560940853, rs1560839872, rs1216822754, rs751364707, rs372708613, rs1560929667, rs1306250811, rs774034818, rs551420048, rs1581871066, rs1221751077, rs1220928329, rs759161069, rs757164572, rs115274645, rs769973229, rs115988233, rs767384375, rs778210310, rs1305250587, rs1239099971, rs1025237623, rs1211489449, rs900642927, rs1400689367, rs140584890, rs757885388, rs1231114395, rs996343137, rs1275232115, rs1046350904, rs762267147, rs373066707, rs867266337, rs1460784357, rs748432333, rs769517051, rs1560937938, rs750033888, rs781065277, rs1751999027, rs1246689760, rs1752077261, rs1754079127, rs1754736103, rs1757056910, rs114673468, rs756934356, rs1176026649, rs1762161869, rs200399043, rs1447433925, rs1389221540, rs893660432, rs1762582426 |
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Anorexia |
Anorexia |
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Exocrine pancreatic insufficiency |
Exocrine pancreatic insufficiency |
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Liver neoplasms |
Liver neoplasms |
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Ovarian epithelial carcinoma |
Carcinoma, Ovarian Epithelial |
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Pancreatic carcinoma |
Familial pancreatic carcinoma, Pancreatic carcinoma, familial |
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17194196 |
Pancreatic neoplasm |
Pancreatic Neoplasm |
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