DNMBP (dynamin binding 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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23268 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Dynamin binding 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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DNMBP |
SynonymsGene synonyms aliases
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ARHGEF36, CTRCT48, TUBA |
ChromosomeChromosome number
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10 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q24.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphi |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1564722302 |
CT>- |
Pathogenic |
Stop gained, coding sequence variant |
rs1564723150 |
GGTT>- |
Pathogenic |
Frameshift 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 |
Q6XZF7 |
Protein name |
Dynamin-binding protein (Scaffold protein Tuba) |
Protein function |
Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in |
PDB |
1UG1
,
1UHC
,
4CC2
,
4CC3
,
4CC4
,
4CC7
,
4GLM
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00018 |
SH3_1 |
8 → 53 |
SH3 domain |
Domain |
PF07653 |
SH3_2 |
70 → 124 |
Variant SH3 domain |
Domain |
PF14604 |
SH3_9 |
152 → 200 |
Variant SH3 domain |
Domain |
PF00018 |
SH3_1 |
249 → 294 |
SH3 domain |
Domain |
PF00621 |
RhoGEF |
788 → 965 |
RhoGEF domain |
Domain |
PF03114 |
BAR |
997 → 1209 |
BAR domain |
Domain |
PF00018 |
SH3_1 |
1519 → 1568 |
SH3 domain |
Domain |
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Sequence |
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Sequence length |
1577 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cataract |
Total early-onset cataract |
rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital cataract |
Congenital total cataract |
|
30290152 |
Exotropia |
Exotropia |
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Miosis disorder |
Miosis disorder |
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Pendular nystagmus |
Pendular Nystagmus |
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