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 li... See more...

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 Summary 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 , Rfam classification 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 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 532 +2.2 2219 6.9 CTCF ZSCAN5C TCF12 POLR2G JUND FOS ZFX ZNF10 ZIC2 FOXA1 DNMBP EBAG9P1 MRPL43 TWNK PHBP9 RF00017-774
GH10J099912 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 524.2 +96.5 96463 3 MYC USF1 TEAD4 GABPA POLR2A HDAC2 CTCF RXRA ZBTB17 KDM5A DNMBP DNMBP-AS1 lnc-ABCC2-2 piR-61028-053
GH10J099974 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 43.7 +30.4 30447 13.8 CTCF ZSCAN5C JUND FOS ZNF639 ZIC2 ZNF423 RELA KLF7 MEF2C DNMBP DNMBP-AS1 BLOC1S2 RF00017-774
GH10J099924 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 38.6 +81.4 81398 8.1 ZNF217 TCF12 POLR2G NCOR1 REST KDM6A TCF7 CHD1 TGIF2 ZBTB26 DNMBP-AS1 DNMBP CWF19L1 lnc-ABCC2-2 piR-48369-023
GH10J099993 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 31.6 +14.3 14348 6 SIN3A USF1 ZNF639 ZNF10 TRIM28 REST USF2 TOE1 RUNX1 CTBP1 DNMBP BLOC1S2 CHUK CWF19L1 ENTPD7 ERLIN1 RF00017-774
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNMBP

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

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

No data available for Graphical View of Domain Structure and 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,IEA 16413298
genes like me logo Genes that share ontologies with DNMBP: view
genes like me logo Genes that share phenotypes with DNMBP: view

Human Phenotype Ontology for DNMBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

  • Addgene plasmids for DNMBP

No data available for Enzyme Numbers (IUBMB) , 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
cytoskeleton 4
golgi apparatus 4
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1

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

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for DNMBP

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

Expression for DNMBP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 85.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNMBP 31 30
  • 85.11 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 83 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dnmbp 17 31 30
  • 78.85 (n)
rat
(Rattus norvegicus)
Mammalia Dnmbp 30
  • 78.64 (n)
oppossum
(Monodelphis domestica)
Mammalia DNMBP 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNMBP 31 30
  • 67.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNMBP 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnmbp 30
  • 61.06 (n)
Str.13042 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.19408 30
zebrafish
(Danio rerio)
Actinopterygii dnmbp 31 30
  • 58.43 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y37A1B.17 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNMBP Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs1564722302 Pathogenic: CATARACT 48 99,896,369(-) ATC/A NONSENSE
rs1564723150 Pathogenic: CATARACT 48 99,898,150(-) ATTGG/A FRAMESHIFT_VARIANT
rs1564745688 Pathogenic: CATARACT 48 99,956,663(-) G/A NONSENSE
rs11190305 - p.Cys1413Trp
rs12267912 - p.Glu81Asp

Additional dbSNP identifiers (rs#s) for DNMBP Gene

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

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

Disorder Aliases PubMed IDs
cataract 48
  • ctrct48
cataract 44
  • ctrct44
cataract
  • cataracts
recurrent corneal erosion
  • recurrent erosion of cornea
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
  • Cataract 48 (CTRCT48) [MIM:618415]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset. {ECO:0000269 PubMed:30290152}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. 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 41 54
  2. DNMBP is genetically associated with Alzheimer dementia in the Belgian population. (PMID: 18359537) Bettens K … Van Broeckhoven C (Neurobiology of aging 2009) 3 23 41 54
  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 41 54
  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 41 54
  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 54

Products for DNMBP Gene

Sources for DNMBP Gene