Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23268
Gene name Gene Name - the full gene name approved by the HGNC.
Dynamin binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNMBP
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGEF36, CTRCT48, TUBA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CTRCT48
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1564722302 CT>- Pathogenic Stop gained, coding sequence variant
rs1564723150 GGTT>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016851 hsa-miR-335-5p Microarray 18185580
MIRT022215 hsa-miR-124-3p Microarray 18668037
MIRT028856 hsa-miR-26b-5p Microarray 19088304
MIRT052230 hsa-let-7b-5p CLASH 23622248
MIRT050939 hsa-miR-17-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 17015620
GO:0005515 Function Protein binding IPI 16413298, 17015620, 18654987
GO:0005794 Component Golgi apparatus ISS
GO:0005795 Component Golgi stack IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611282 30373 ENSG00000107554
Protein
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
Tissue specificity TISSUE SPECIFICITY: Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:14506234}.
Sequence
MEAGSVVRAIFDFCPSVSEELPLFVGDIIEVLAVVDEFWLLGKKEDVTGQFPSSFVEIVT
IPSLKEGERLFVCICEFTSQELDNLPLHRGDLVILDGIPTAGWLQGRSCWGARGFFPSSC
VREL
CLSSQSRQWHSQSALFQIPEYSMGQARALMGLSAQLDEELDFREGDVITIIGVPEP
GWFEGELEGRRGIFPEGFVE
LLGPLRTVDESVSSGNQDDCIVNGEVDTPVGEEEIGPDED
EEEPGTYGVALYRFQALEPNELDFEVGDKIRILATLEDGWLEGSLKGRTGIFPYRFVKLC
PDTRVEETMALPQEGSLARIPETSLDCLENTLGVEEQRHETSDHEAEEPDCIISEAPTSP
LGHLTSEYDTDRNSYQDEDTAGGPPRSPGVEWEMPLATDSPTSDPTEVVNGISSQPQVPF
HPNLQKSQYYSTVGGSHPHSEQYPDLLPLEARTRDYASLPPKRMYSQLKTLQKPVLPLYR
GSSVSASRVVKPRQSSPQLHNLASYTKKHHTSSVYSISERLEMKPGPQAQGLVMEAATHS
QGDGSTDLDSKLTQQLIEFEKSLAGPGTEPDKILRHFSIMDFNSEKDIVRGSSKLITEQE
LPERRKALRPPPPRPCTPVSTSPHLLVDQNLKPAPPLVVRPSRPAPLPPSAQQRTNAVSP
KLLSRHRPTCETLEKEGPGHMGRSLDQTSPCPLVLVRIEEMERDLDMYSRAQEELNLMLE
EKQDESSRAETLEDLKFCESNIESLNMELQQLREMTLLSSQSSSLVAPSGSVSAENPEQR
MLEKRAKVIEELLQTERDYIRDLEMCIERIMVPMQQAQVPNIDFEGLFGNMQMVIKVSKQ
LLAALEISDAVGPVFLGHRDELEGTYKIYCQNHDEAIALLEIYEKDEKIQKHLQDSLADL
KSLYNEWGCTNYINLGSFLIKPVQRVMRYPLLLMELLNSTPESHPDKVPLTNAVLAVKEI
NVNIN
EYKRRKDLVLKYRKGDEDSLMEKISKLNIHSIIKKSNRVSSHLKHLTGFAPQIKD
EVFEETEKNFRMQERLIKSFIRDLSLYLQHIRESACVKVVAAVSMWDVCMERGHRDLEQF
ERVHRYISDQLFTNFKERTERLVISPLNQLLSMFTGPHKLVQKRFDKLLDFYNCTERAEK
LKDKKTLEELQSARNNYEALNAQLLDELPKFHQYAQGLFTNCVHGYAEAHCDFVHQALEQ
LKPLLSLLK
VAGREGNLIAIFHEEHSRVLQQLQVFTFFPESLPATKKPFERKTIDRQSAR
KPLLGLPSYMLQSEELRASLLARYPPEKLFQAERNFNAAQDLDVSLLEGDLVGVIKKKDP
MGSQNRWLIDNGVTKGFVYSSFLKPYNPRRSHSDASVGSHSSTESEHGSSSPRFPRQNSG
STLTFNPSSMAVSFTSGSCQKQPQDASPPPKECDQGTLSASLNPSNSESSPSRCPSDPDS
TSQPRSGDSADVARDVKQPTATPRSYRNFRHPEIVGYSVPGRNGQSQDLVKGCARTAQAP
EDRSTEPDGSEAEGNQVYFAVYTFKARNPNELSVSANQKLKILEFKDVTGNTEWWLAEVN
GKKGYVPS
NYIRKTEYT
Sequence length 1577
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Total early-onset cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 17442457