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Aliases for DNMBP Gene

Aliases for DNMBP Gene

  • Dynamin Binding Protein 2 3 5
  • Dynamin-Binding Protein 3 4
  • Scaffold Protein TUBA 2 3
  • ARHGEF36 3 4
  • TUBA 3 4
  • Scaffold Protein Tuba 4
  • KIAA1010 4
  • CTRCT48 3

External Ids for DNMBP Gene

Previous GeneCards Identifiers for DNMBP Gene

  • GC10M101301
  • GC10M101625
  • GC10M095263

Summaries for DNMBP Gene

Entrez Gene Summary for DNMBP 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. Polymorphisms in this gene have been linked to Alzheimer's disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for DNMBP Gene

DNMBP (Dynamin Binding Protein) is a Protein Coding gene. Diseases associated with DNMBP include Cataract 48 and Cataract 44. Among its related pathways are Regulation of CDC42 activity. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF38.

UniProtKB/Swiss-Prot for DNMBP Gene

  • 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 epithelial cells (PubMed:19767742, PubMed:17015620). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Play a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).

Additional gene information for DNMBP Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNMBP Gene

Genomics for DNMBP Gene

GeneHancer (GH) Regulatory Elements for DNMBP Gene

Promoters and enhancers for DNMBP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J100004 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 632 +2.2 2219 6.9 CTCF ZFX ELF3 MNT CBFA2T2 NKRF ZNF121 ZNF384 ZNF687 ZSCAN21 DNMBP EBAG9P1 MRPL43 TWNK PHBP9 DNMBP-AS1
GH10J099912 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 624.2 +96.5 96463 3 SP1 ZNF121 ZNF600 ZNF692 ZNF501 POLR2A SCRT2 ZBTB20 USF1 ZBTB17 DNMBP DNMBP-AS1 GC10P099882
GH10J100986 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 32.4 -977.5 -977509 2.9 ZFX MNT NKRF POLR2A ZNF687 ZSCAN21 MYC SP7 ELF1 SP1 MRPL43 ENSG00000236662 PIR57005 PIR47631 PIR54177 TWNK PIR34755 PIR56323 GC10M100989 PHBP9
GH10J099924 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 38.6 +81.4 81398 8.1 ELF3 SP1 CEBPG HNF1A ZNF644 KAT8 POLR2A PKNOX1 RXRA SOX13 DNMBP-AS1 DNMBP CWF19L1
GH10J099981 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 43.9 +26.2 26192 5.3 ZNF121 ZNF687 ZSCAN21 SP7 SP1 PRDM1 MLLT1 MZF1 IKZF1 POLR2A DNMBP DNMBP-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNMBP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNMBP gene promoter:
  • AML1a
  • C/EBPalpha
  • C/EBPbeta
  • CUTL1
  • FOXO4
  • GR
  • GR-alpha
  • GR-beta
  • Sp1

Genomic Locations for DNMBP Gene

Genomic Locations for DNMBP Gene
chr10:99,875,576-100,009,948
(GRCh38/hg38)
Size:
134,373 bases
Orientation:
Minus strand
chr10:101,635,334-101,769,676
(GRCh37/hg19)
Size:
134,343 bases
Orientation:
Minus strand

Genomic View for DNMBP Gene

Genes around DNMBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNMBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNMBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNMBP Gene

Proteins for DNMBP Gene

  • Protein details for DNMBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6XZF7-DNMBP_HUMAN
    Recommended name:
    Dynamin-binding protein
    Protein Accession:
    Q6XZF7
    Secondary Accessions:
    • Q8IVY3
    • Q9Y2L3

    Protein attributes for DNMBP Gene

    Size:
    1577 amino acids
    Molecular mass:
    177347 Da
    Quaternary structure:
    • Binds DNM1 via its N-terminal SH3 domains. The C-terminal SH3 domain binds a complex containing actin, tubulin, Hsp70 and actin-regulatory proteins, such as ENAH, EVL, WIRE, CR16, WAVE1 and NAP1L1 (By similarity). Interacts with FASLG (PubMed:19807924). Interacts (via SH3 domain 6) with WASL (PubMed:19767742, PubMed:24332715, PubMed:17015620). Interacts (via SH3 domain 6) interacts with ENAH (PubMed:24332715). Interacts (via C-terminal domain) with TJP1; required for the apical cell-cell junction localization of DNMBP (PubMed:17015620).
    • (Microbial infection) Interacts (via SH3 domain 6) with L.monocytogenes InlC.

    Three dimensional structures from OCA and Proteopedia for DNMBP Gene

    Alternative splice isoforms for DNMBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNMBP Gene

Post-translational modifications for DNMBP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNMBP Gene

No data available for DME Specific Peptides for DNMBP Gene

Domains & Families for DNMBP Gene

Gene Families for DNMBP Gene

Suggested Antigen Peptide Sequences for DNMBP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51432, highly similar to Dynamin-binding protein (B4E0Q3_HUMAN)
  • Scaffold protein Tuba (DNMBP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNMBP: view

No data available for UniProtKB/Swiss-Prot for DNMBP Gene

Function for DNMBP Gene

Molecular function for DNMBP Gene

UniProtKB/Swiss-Prot 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 epithelial cells (PubMed:19767742, PubMed:17015620). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Play a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).

Phenotypes From GWAS Catalog for DNMBP Gene

Gene Ontology (GO) - Molecular Function for DNMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IDA 17015620
GO:0005515 protein binding IPI 16413298
genes like me logo Genes that share ontologies with DNMBP: view
genes like me logo Genes that share phenotypes with DNMBP: view

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for DNMBP
  • Applied Biological Materials (abm): Clones for DNMBP - Now 50% OFF >
  • * DNMBP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DNMBP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNMBP Gene

Localization for DNMBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNMBP Gene

Cytoplasm. Golgi apparatus, Golgi stack. Cytoplasm, cytoskeleton. Cell junction, synapse. Cell junction. Note=Localizes to the apical junction, colocalizes with TJP1. {ECO:0000269 PubMed:17015620}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNMBP gene
Compartment Confidence
golgi apparatus 4
cytoskeleton 3
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nuclear bodies (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus ISS --
GO:0005795 Golgi stack IEA --
GO:0005856 cytoskeleton IEA --
GO:0005911 cell-cell junction IDA 17015620
genes like me logo Genes that share ontologies with DNMBP: view

Pathways & Interactions for DNMBP Gene

PathCards logo

SuperPathways for DNMBP Gene

SuperPathway Contained pathways
1 Regulation of CDC42 activity
genes like me logo Genes that share pathways with DNMBP: view

Pathways by source for DNMBP Gene

1 BioSystems pathway for DNMBP Gene

Gene Ontology (GO) - Biological Process for DNMBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007568 aging IEA --
GO:0008360 regulation of cell shape IMP 17015620
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with DNMBP: view

No data available for SIGNOR curated interactions for DNMBP Gene

Drugs & Compounds for DNMBP Gene

No Compound Related Data Available

Transcripts for DNMBP Gene

mRNA/cDNA for DNMBP Gene

Unigene Clusters for DNMBP Gene

Dynamin binding protein:
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for DNMBP
  • Applied Biological Materials (abm): Clones for DNMBP - Now 50% OFF >
  • * DNMBP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * DNMBP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for DNMBP Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12
SP1:
SP2:
SP3: - - -
SP4: -
SP5:
SP6:

Relevant External Links for DNMBP Gene

GeneLoc Exon Structure for
DNMBP
ECgene alternative splicing isoforms for
DNMBP

Expression for DNMBP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNMBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNMBP Gene

This gene is overexpressed in Cervix (46.1) and Breast (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNMBP Gene



Protein tissue co-expression partners for DNMBP Gene

NURSA nuclear receptor signaling pathways regulating expression of DNMBP Gene:

DNMBP

SOURCE GeneReport for Unigene cluster for DNMBP Gene:

Hs.500771

mRNA Expression by UniProt/SwissProt for DNMBP Gene:

Q6XZF7-DNMBP_HUMAN
Tissue specificity: Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for DNMBP Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with DNMBP: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNMBP Gene

Orthologs for DNMBP Gene

This gene was present in the common ancestor of animals.

Orthologs for DNMBP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNMBP 35 34
  • 85.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNMBP 35 34
  • 85.11 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dnmbp 17 35 34
  • 78.85 (n)
rat
(Rattus norvegicus)
Mammalia Dnmbp 34
  • 78.64 (n)
oppossum
(Monodelphis domestica)
Mammalia DNMBP 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNMBP 35 34
  • 67.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNMBP 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnmbp 34
  • 61.06 (n)
Str.13042 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19408 34
zebrafish
(Danio rerio)
Actinopterygii dnmbp 35 34
  • 58.43 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y37A1B.17 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for DNMBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNMBP Gene

ENSEMBL:
Gene Tree for DNMBP (if available)
TreeFam:
Gene Tree for DNMBP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNMBP: view image

Paralogs for DNMBP Gene

Paralogs for DNMBP Gene

(4) SIMAP similar genes for DNMBP Gene using alignment to 4 proteins:

  • DNMBP_HUMAN
  • B4E0Q3_HUMAN
  • Q5SVK8_HUMAN
  • Q5SVK9_HUMAN
genes like me logo Genes that share paralogs with DNMBP: view

Variants for DNMBP Gene

Sequence variations from dbSNP and Humsavar for DNMBP Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000024628 -- 99,881,121(-) A/G intron_variant
rs1000034119 -- 99,996,777(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000040931 -- 99,984,972(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000047196 -- 99,896,227(-) T/C intron_variant
rs1000095192 -- 99,924,730(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DNMBP Gene

Variant ID Type Subtype PubMed ID
esv2678240 CNV deletion 23128226
esv3624353 CNV loss 21293372
esv3624354 CNV loss 21293372
esv3624355 CNV loss 21293372
nsv1046030 CNV loss 25217958
nsv1046825 CNV loss 25217958
nsv1118183 CNV deletion 24896259
nsv1144511 CNV deletion 24896259
nsv507574 OTHER sequence alteration 20534489
nsv516789 CNV loss 19592680
nsv552045 CNV gain 21841781
nsv7517 CNV insertion 18451855
nsv7518 CNV deletion 18451855
nsv825539 CNV loss 20364138
nsv825540 CNV gain 20364138
nsv831960 CNV gain 17160897
nsv948162 CNV duplication 23825009
nsv948163 CNV duplication 23825009

Variation tolerance for DNMBP Gene

Residual Variation Intolerance Score: 15.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.56; 77.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNMBP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNMBP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNMBP Gene

Disorders for DNMBP Gene

MalaCards: The human disease database

(4) MalaCards diseases for DNMBP Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataract 48
  • ctrct48
cataract 44
  • ctrct44
cone-rod dystrophy and hearing loss 2
  • crdhl2
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search DNMBP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DNMBP_HUMAN
  • Note=Defects in DNMBP may be involved in an autosomal recessive ocular disease characterized by bilateral infantile or early-childhood-onset cataracts. {ECO:0000269 PubMed:30290152}.

Additional Disease Information for DNMBP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNMBP: view

No data available for Genatlas for DNMBP Gene

Publications for DNMBP Gene

  1. DNMBP is genetically associated with Alzheimer dementia in the Belgian population. (PMID: 18359537) Bettens K … Van Broeckhoven C (Neurobiology of aging 2009) 3 23 45 58
  2. Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample. (PMID: 18452187) Morgan AR … Williams J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 23 45 58
  3. No association of dynamin binding protein (DNMBP) gene SNPs and Alzheimer's disease. (PMID: 17442457) Minster RL … Kamboh MI (Neurobiology of aging 2008) 3 23 45 58
  4. Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease. (PMID: 16740596) Kuwano R … Japanese Genetic Study Consortium for Alzeheimer's Disease (Human molecular genetics 2006) 3 23 45 58
  5. Tuba, a novel protein containing bin/amphiphysin/Rvs and Dbl homology domains, links dynamin to regulation of the actin cytoskeleton. (PMID: 14506234) Salazar MA … De Camilli P (The Journal of biological chemistry 2003) 2 3 4 58

Products for DNMBP Gene

Sources for DNMBP Gene

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