Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4650 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Myosin IXB |
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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MYO9B |
SynonymsGene synonyms aliases
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CELIAC4, MYR5 |
ChromosomeChromosome number
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19 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
19p13.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs2305764 |
G>A,C |
Risk-factor |
Intron 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:0000146 |
Function |
Microfilament motor activity |
IDA |
9490638, 11901422, 16616011 |
GO:0003779 |
Function |
Actin binding |
IDA |
9490638, 16338935, 16616011 |
GO:0005096 |
Function |
GTPase activator activity |
IDA |
9490638, 15644318, 26529257 |
GO:0005096 |
Function |
GTPase activator activity |
TAS |
|
GO:0005515 |
Function |
Protein binding |
IPI |
15644318, 16417406 |
GO:0005516 |
Function |
Calmodulin binding |
IDA |
9490638, 16338935 |
GO:0005524 |
Function |
ATP binding |
IDA |
16338935 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
8907710 |
GO:0005829 |
Component |
Cytosol |
IDA |
|
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005884 |
Component |
Actin filament |
IDA |
8907710, 16338935, 16616011 |
GO:0005938 |
Component |
Cell cortex |
IDA |
8907710 |
GO:0007266 |
Process |
Rho protein signal transduction |
IC |
9490638 |
GO:0015629 |
Component |
Actin cytoskeleton |
TAS |
8907710 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016459 |
Component |
Myosin complex |
IEA |
|
GO:0016887 |
Function |
ATPase activity |
IDA |
16338935 |
GO:0030048 |
Process |
Actin filament-based movement |
IDA |
9490638 |
GO:0030048 |
Process |
Actin filament-based movement |
TAS |
8907710 |
GO:0031267 |
Function |
Small GTPase binding |
IPI |
26529257 |
GO:0032011 |
Process |
ARF protein signal transduction |
IDA |
15644318 |
GO:0035023 |
Process |
Regulation of Rho protein signal transduction |
IMP |
26529257 |
GO:0035385 |
Process |
Roundabout signaling pathway |
IDA |
26529257 |
GO:0042803 |
Function |
Protein homodimerization activity |
IDA |
11901422 |
GO:0043531 |
Function |
ADP binding |
IDA |
16338935 |
GO:0043547 |
Process |
Positive regulation of GTPase activity |
IEA |
|
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
8907710 |
GO:0048495 |
Function |
Roundabout binding |
IPI |
26529257 |
GO:0051056 |
Process |
Regulation of small GTPase mediated signal transduction |
TAS |
|
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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 |
Q13459 |
Protein name |
Unconventional myosin-IXb (Unconventional myosin-9b) |
Protein function |
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Binds actin with high affinity both in the absence and presence of ATP and its mechanochemical activity is inhibited by calcium ions (PubMed:9490638). Also acts as a GTPase activator for RHOA (PubMed:9490638, PubMed:26529257). Plays a role in the regulation of cell migration via its role as RHOA GTPase activator. This is regulated by its interaction with the SLIT2 receptor ROBO1; interaction with ROBO1 impairs interaction with RHOA and subsequent activation of RHOA GTPase activity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). |
PDB |
5C5S
,
5HPY
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00788 |
RA |
15 → 114 |
Ras association (RalGDS/AF-6) domain |
Domain |
PF00063 |
Myosin_head |
148 → 715 |
Myosin head (motor domain) |
Domain |
PF00063 |
Myosin_head |
780 → 941 |
Myosin head (motor domain) |
Domain |
PF00612 |
IQ |
957 → 977 |
IQ calmodulin-binding motif |
Motif |
PF00612 |
IQ |
980 → 1000 |
IQ calmodulin-binding motif |
Motif |
PF00612 |
IQ |
1002 → 1022 |
IQ calmodulin-binding motif |
Motif |
PF00612 |
IQ |
1025 → 1045 |
IQ calmodulin-binding motif |
Motif |
PF00620 |
RhoGAP |
1713 → 1863 |
RhoGAP domain |
Domain |
|
Sequence |
|
Sequence length |
2157 |
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 |
Prostate cancer, hereditary |
PROSTATE CANCER, HEREDITARY, 1 |
rs387906327, rs193929331, rs74315365, rs10993994, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466 |
29892016 |
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 |
29059683 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
21688385, 17948900, 25710847 |
Breast cancer |
Malignant neoplasm of breast |
rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs-1, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243 |
20852631 |
Coronary artery disease |
Coronary Artery Disease |
rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 |
29212778 |
Prostate cancer |
Prostate carcinoma, Prostate cancer, familial |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29892016 |
Hypertension |
Hypertensive disease |
rs13306026 |
30487518 |
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