Gene Gene information from NCBI Gene database.
Entrez ID 23268
Gene name Dynamin binding protein
Gene symbol DNMBP
Synonyms (NCBI Gene)
ARHGEF36CTRCT48TUBA
Chromosome 10
Chromosome location 10q24.2
Summary 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.
2
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.
363
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 17015620
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005515 Function Protein binding IPI 16413298, 17015620, 18654987, 24332715, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611282 30373 ENSG00000107554
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
58
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cataract 48 Likely pathogenic; Pathogenic rs2493261927, rs1564745688, rs1564722302, rs1564723150 RCV004442737
RCV000770779
RCV000770780
RCV000770781
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DNMBP-related disorder Benign; Uncertain significance; Likely benign rs2255901, rs11190305, rs2490763, rs3758394, rs7919323, rs2862923, rs35924554, rs1409888200, rs369854167, rs11190304, rs2256287, rs79660497, rs35881299, rs141253564, rs7077718
View all (32 more)
RCV003975843
RCV003975844
RCV003984040
RCV003975845
RCV003975846
RCV003984041
RCV003975901
RCV003406023
RCV003929025
RCV003919754
RCV003921884
RCV003924102
RCV003929747
RCV003931851
RCV003974387
RCV003974737
RCV003906766
RCV003906791
RCV003906953
RCV003979768
RCV003979847
RCV003912206
RCV003912238
RCV003977383
RCV003911655
RCV003934021
RCV003944149
RCV003964015
RCV003954946
RCV003917125
RCV003927107
RCV003939445
RCV003951756
RCV003914426
RCV003924299
RCV003922014
RCV003934263
RCV003927395
RCV003942306
RCV003956701
RCV003944362
RCV003954571
RCV003979060
RCV003971657
RCV003976714
RCV003966975
RCV003972125
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 17442457