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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cataract 48 Likely pathogenic; Pathogenic rs2493261927, rs1564745688, rs1564722302, rs1564723150 RCV004442737
RCV000770779
RCV000770780
RCV000770781
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL TOTAL CATARACT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DNMBP-related disorder Benign; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 17442457 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 16740596, 18359537, 18452187
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 30290152
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital total cataract Congenital Cataract ORPHANET_DG 30290152
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Exotropia Exotropia HPO_DG
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 17016605
★☆☆☆☆
Found in Text Mining only
Miosis disorder Miosis Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma BEFREE 28681529
★☆☆☆☆
Found in Text Mining only
Pendular Nystagmus Pendular nystagmus HPO_DG
★☆☆☆☆
Found in Text Mining only
Total early-onset cataract Cataract Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations